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Sample records for crisponi syndrome longitudinal

  1. Crisponi/CISS1 syndrome

    DEFF Research Database (Denmark)

    AlHashem, Amal M; Majeed-Saidan, Muhammad Ali; Ammari, Amer N

    2016-01-01

    unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32). In Saudi Arabia the prevalence of the syndrome is probably underestimated due to the difficulty in making the diagnosis considering the complex phenotype with typical neonatal and evolutive features....

  2. Longitudinal tibial epiphyseal bracket in Nievergelt syndrome

    International Nuclear Information System (INIS)

    Burnstein, M.I.; De Smet, A.A.; Breed, A.L.; Thomas, J.R.; Hafez, G.R.

    1989-01-01

    A patient is described with lower extremity mesomelic dwarfism associated with bilateral congenital elbow, hip, and knee dislocations. Rhomboid-shaped tibiae and delayed ossification of the primary fibular ossification centers were demonstrated at birth. Plain films and magnetic resonance imaging revealed that the tibial deformities were due to the presence of longitudinal epiphyseal brackets. These brackets were observed at surgery and confirmed histologically. Recognition of the longitudinal epiphyseal bracket and its relationship to the tibial deformities seen in this patient with Nievergelt syndrome is important for planning surgical treatment. (orig.)

  3. Longitudinal tibial epiphyseal bracket in Nievergelt syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Burnstein, M.I.; De Smet, A.A.; Breed, A.L.; Thomas, J.R.; Hafez, G.R.

    1989-04-01

    A patient is described with lower extremity mesomelic dwarfism associated with bilateral congenital elbow, hip, and knee dislocations. Rhomboid-shaped tibiae and delayed ossification of the primary fibular ossification centers were demonstrated at birth. Plain films and magnetic resonance imaging revealed that the tibial deformities were due to the presence of longitudinal epiphyseal brackets. These brackets were observed at surgery and confirmed histologically. Recognition of the longitudinal epiphyseal bracket and its relationship to the tibial deformities seen in this patient with Nievergelt syndrome is important for planning surgical treatment. (orig.).

  4. Longitudinal Profiles of Adaptive Behavior in Fragile X Syndrome

    Science.gov (United States)

    Quintin, Eve-Marie; Jo, Booil; Lightbody, Amy A.; Hazlett, Heather Cody; Piven, Joseph; Hall, Scott S.; Reiss, Allan L.

    2014-01-01

    OBJECTIVE: To examine longitudinally the adaptive behavior patterns in fragile X syndrome. METHOD: Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2–18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS: Standard scores of adaptive behavior in people with fragile X syndrome are marked by a significant decline over time in all domains for males and in communication for females. Socialization skills are a relative strength as compared with the other domains for males with fragile X syndrome. Females with fragile X syndrome did not show a discernible pattern of developmental strengths and weaknesses. CONCLUSIONS: This is the first large-scale longitudinal study to show that the acquisition of adaptive behavior slows as individuals with fragile X syndrome age. It is imperative to ensure that assessments of adaptive behavior skills are part of intervention programs focusing on childhood and adolescence in this condition. PMID:25070318

  5. Intellectual development in Noonan syndrome: a longitudinal study.

    Science.gov (United States)

    Roelofs, Renée L; Janssen, Nikki; Wingbermühle, Ellen; Kessels, Roy P C; Egger, Jos I M

    2016-07-01

    Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory, attention, and executive functioning. This longitudinal study is the first to investigate intellectual development in a group of individuals with Noonan syndrome. Sixteen patients with Noonan syndrome underwent intelligence assessment both in childhood and in adulthood, using Wechsler's intelligence scales. IQ scores and Wechsler standard scores achieved in childhood and adulthood were compared. Subsequently, verbal and performance IQ in childhood were used as predictors for adult IQ and index scores. Compared with childhood scores, adult full-scale IQ and performance IQ significantly increased. Adult performance IQ was higher than verbal IQ. Childhood performance IQ and verbal IQ together predicted all adult IQ and index scores, except for the processing speed index. Childhood IQ was a significant predictor of adult intelligence in patients with Noonan syndrome. Performance IQ advanced to a normal level in adulthood, while verbal IQ did not develop proportionately, resulting in a discrepancy between adult performance IQ and verbal IQ. This finding could suggest a delay in the development of executive functioning in patients with Noonan syndrome, which seems to be outgrown in adulthood.

  6. Mini transverse versus longitudinal incision in carpal tunnel syndrome

    International Nuclear Information System (INIS)

    Korkmaz, M.; Cepoglu, M.C.

    2013-01-01

    Objective: To evaluate the effectiveness of mini-transverse compared with mini-longitudinal incision for carpal tunnel release (CTR) with reference to postoperative functional capacity, symptom severity and complication rate. Study Design: Analytical study. Place and Duration of Study: Cumhuriyet University Medical Faculty, Department of Orthopaedics, Tokat State Hospital, Department of Orthopaedics and Medical Park Tokat Hospital, Department of Neurosurgery, from January 2007 to January 2009. Methodology: This study included 93 hands of 79 patients with carpal tunnel syndrome (CTS), which were operated between 2007 and 2009. Patients were divided according to incision types into Group-1 (undergoing mini-longitudinal incision) and Group-2 (undergoing mini-transverse incision). Patients were evaluated initially and at 3 weeks after treatment according to symptom severity and functional status of Boston Questionnaire (BQ). Demographic and clinical data were analyzed and compared statistically between two groups. Results: Statistically significant differences were observed in BQ symptom and functional scores between the pre- and postoperative period (p < 0.0001). BQ symptom and functional scores at postoperative period were better in Group-1 than Group-2 (p = 0.044 and p = 0.023 respectively). The scar hypersensitivity (p = 0.258) and tenderness (p = 1.00) associated with the incision sites were not statistically different. Conclusion: Longitudinal incision is more effective on symptom and functional conditions than transverse incision. However, there was less scar formation with transverse incision. (author)

  7. Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.

    Science.gov (United States)

    Hernandez, R Nick; Feinberg, Rachel L; Vaurio, Rebecca; Passanante, Natalie M; Thompson, Richard E; Kaufmann, Walter E

    2009-06-01

    The present study extends our previous work on characterizing the autistic behavior profile of boys with fragile X syndrome (FXS) who meet Diagnostic and Statistical Manual for Mental Disorders, 4th Edition criteria for autism spectrum disorder (ASD) into a longitudinal evaluation of ASD in FXS (FXS + ASD). Specifically, we aimed to determine the stability of the diagnosis and profile of ASD in FXS over time. Through regression models, we also evaluated which autistic and social behaviors and skills were correlates of diagnosis and autistic behavior severity (i.e., Autism Diagnostic Interview-Revised total scores). Finally, we assessed the evolution of cognitive parameters in FXS + ASD. A population of 56 boys (30-88 months at baseline) with FXS was evaluated using measures of autistic, social, and cognitive behaviors and skills at three yearly evaluations. We found that the diagnosis of ASD in FXS was relatively stable over time. Further emphasizing this stability, we found a set of behaviors and skills, particularly those related to peer relationships and adaptive socialization, that differentiated FXS + ASD from the rest of the FXS cohort (FXS + None) and contributed to autistic severity at all time points. Nevertheless, the general improvement in autistic behavior observed in FXS + ASD coupled with the concurrent worsening in FXS + None resulted in less differentiation between the groups over time. Surprisingly, FXS + ASD IQ scores were stable while FXS + None non-verbal IQ scores declined. Our findings indicate that ASD is a distinctive subphenotype in FXS characterized by deficits in complex social interaction, with similarities to ASD in the general population. (c) 2009 Wiley-Liss, Inc.

  8. Longitudinal Associations between Posttraumatic Stress Disorder and Metabolic Syndrome Severity

    Science.gov (United States)

    Wolf, Erika J.; Bovin, Michelle J.; Green, Jonathan D.; Mitchell, Karen S.; Stoop, Tawni B.; Barretto, Kenneth M.; Jackson, Colleen E.; Lee, Lewina O.; Fang, Shona C.; Trachtenberg, Felicia; Rosen, Raymond C.; Keane, Terence M.; Marx, Brian P.

    2016-01-01

    Background Posttraumatic stress disorder (PTSD) is associated with elevated risk for metabolic syndrome (MetS). However, the direction of this association is not yet established, as most prior studies employed cross-sectional designs. The primary goal of this study was to evaluate bidirectional associations between PTSD and MetS using a longitudinal design. Methods 1,355 male and female veterans of the conflicts in Iraq and Afghanistan underwent PTSD diagnostic assessments and their biometric profiles pertaining to MetS were extracted from the electronic medical record at two time points (spanning ~2.5 years, n = 971 at time 2). Results The prevalence of MetS among veterans with PTSD was just under 40% at both time points and was significantly greater than that for veterans without PTSD; the prevalence of MetS among those with PTSD was also elevated relative to age-matched population estimates. Cross-lagged panel models revealed that PTSD severity predicted subsequent increases in MetS severity (β = .08, p = .002), after controlling for initial MetS severity, but MetS did not predict later PTSD symptoms. Logistic regression results suggested that for every 10 PTSD symptoms endorsed at time 1, the odds of a subsequent MetS diagnosis increased by 56%. Conclusions Results highlight the substantial cardiometabolic concerns of young veterans with PTSD and raise the possibility that PTSD may predispose individuals to accelerated aging, in part, manifested clinically as MetS. This demonstrates the need to identify those with PTSD at greatest risk for MetS and to develop interventions that improve both conditions. PMID:27087657

  9. Pragmatic Abilities of Children with Williams Syndrome: A Longitudinal Examination

    Science.gov (United States)

    John, Angela E.; Dobson, Lauren A.; Thomas, Lauren E.; Mervis, Carolyn B.

    2012-01-01

    Prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS). To further address this aspect of the WS social phenotype, we used an individual differences approach to consider both cross-sectional and longitudinal relations among different pragmatic abilities for 14 children with WS, taking into account individual differences in non-verbal reasoning abilities. We also considered the relations between pragmatic abilities and expressive vocabulary ability. Participants were tested at two time points: as 4-year-olds during a 30-min play session with their mothers (Time 1) and an average of 5.87 years later during a one-on-one conversation with a familiar researcher (Time 2). Children’s intellectual and expressive vocabulary abilities were assessed at both time points. Results indicated that the ability to verbally contribute information beyond what was required in response to a question (ExtendQ) was significantly related to the ability to verbally contribute new information in the absence of a question (ExtendS) both at age 4 years and during primary school. At age 4, both the ability to pair verbalizations with eye contact in triadic interactions (secondary intersubjectivity) and expressive vocabulary ability were related to both ExtendQ and ExtendS. Finally, both ExtendQ and the ability to pair verbalizations with eye contact (intersubjectivity) at age 4 years predicted ExtendQ at age 9–12 years. The theoretical implications of our findings and the importance of early pragmatic language intervention for children who have WS are discussed. PMID:22719734

  10. Intellectual development in Noonan syndrome: A longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermühle, P.A.M.; Kessels, R.P.C.; Egger, J.I.M.

    2016-01-01

    INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory,

  11. Longitudinal Neuropsychological Profile in a Patient with Triple A Syndrome

    Directory of Open Access Journals (Sweden)

    Luigi Mazzone

    2013-01-01

    Full Text Available Triple A syndrome is an autosomal recessive disorder characterized by the triad of adrenocorticotropic hormone resistant adrenal insufficiency, achalasia, and alacrima. Our aim was to describe the neuropsychological characteristics and the cooccurring psychopathological and neurological disorders in an Italian male child suffering from Triple A syndrome at the time of admission (T0 and after one year of follow-up (T1. Many difficulties were observed in the motor domain, as well as in manual dexterity and static/dynamic balance domains of the motor task over time. In sharp contrast with previous literature reports on frequent mild cognitive dysfunction in patients with Triple A syndrome, our child did not show any mental retardation. By contrast, he showed an average IQ at T0 with a slight improvement at T1. To our knowledge, this report is the first describing neuropsychological profile and co-occurring psychopathological problems in a child with Triple A syndrome. Considering that the Triple A syndrome is a progressive disorder which can take years to develop the full-blown clinical picture, these patients require periodical medical controls. Moreover, assessment of neuropsychological and psychopathological features should be performed in patients with this disease, in order to underline the variability of this syndrome.

  12. Predicting Longitudinal Change in Language Production and Comprehension in Individuals with Down Syndrome: Hierarchical Linear Modeling.

    Science.gov (United States)

    Chapman, Robin S.; Hesketh, Linda J.; Kistler, Doris J.

    2002-01-01

    Longitudinal change in syntax comprehension and production skill, measured over six years, was modeled in 31 individuals (ages 5-20) with Down syndrome. The best fitting Hierarchical Linear Modeling model of comprehension uses age and visual and auditory short-term memory as predictors of initial status, and age for growth trajectory. (Contains…

  13. A Longitudinal Follow-Up Study of Affect in Children and Adults with Cornelia de Lange Syndrome

    Science.gov (United States)

    Nelson, Lisa; Moss, Jo; Oliver, Chris

    2014-01-01

    Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure…

  14. Adiponectin Levels and Longitudinal Changes in Metabolic Syndrome: The Healthy Twin Study.

    Science.gov (United States)

    Song, Yun-Mi; Lee, Kayoung; Sung, Joohon

    2015-09-01

    We investigated the association of plasma adiponectin levels with longitudinal changes in metabolic syndrome and the metabolic syndrome-related traits [insulin and homeostasis model assessment of insulin resistance (HOMA-IR)], as well as their genetic and environmental correlations. A total of 1030 Koreans (380 men and 650 women; 44.0 ± 12.7 years old) without diabetes of the Healthy Twin Study visited at baseline (2005-2010) and returned for a follow-up examination 3.7 ± 1.2 years later. Baseline plasma adiponectin, metabolic syndrome components [waist circumference (WC), glucose, blood pressure, high-density lipoprotein cholesterol (HDL-C), and triglycerides (TGs)] and metabolic syndrome-related traits were measured at baseline and follow-up. After adjusting for age, sex, smoking, alcohol consumption, physical activity, caloric intake, education level, body mass index (BMI), family history of diabetes, and changes in BMI, 1 standard deviation increment in baseline adiponectin levels was associated with 38-63% lower odds of incident and persistent metabolic syndrome. After additionally adjusting for the baseline levels of each trait, baseline adiponectin levels were inversely associated with WC, blood pressure, insulin, HOMA-IR, and TGs values at follow-up. After adjusting for age, sex, and baseline values of each trait or sum of metabolic syndrome components, baseline adiponectin levels exhibited significantly inverse genetic and environmental correlations with insulin, HOMA-IR, and HDL-C values and the sum of metabolic syndrome components at follow-up. High adiponectin levels reduce the risk of developing metabolic syndrome and having persistent metabolic syndrome and increase of metabolic syndrome-related traits over time. These associations may be explained by pleiotropic genetic mechanisms.

  15. Foot medial longitudinal-arch deformation during quiet standing and gait in subjects with medial tibial stress syndrome

    DEFF Research Database (Denmark)

    Bandholm, Thomas Quaade; Boysen, Lisbeth; Haugaard, Stine

    2008-01-01

    The objective of this study was to investigate (1) if subjects with medial tibial stress syndrome demonstrate increased navicular drop and medial longitudinal-arch deformation during quiet standing and gait compared with healthy subjects, and (2) the relationship between medial longitudinal-arch ...

  16. Pragmatic Abilities of Children with Williams Syndrome: A Longitudinal Examination

    Directory of Open Access Journals (Sweden)

    Angela E. John

    2012-06-01

    Full Text Available Although prior research has indicated that pragmatics is an area of particular weakness for individuals with Williams syndrome (WS, the relations among different pragmatic abilities and the relations between pragmatic ability and expressive vocabulary ability have yet to be addressed. In addition, analyses of the relations between the same type of pragmatic ability over time have not been reported. The present study was designed to address these questions. We considered the pragmatic language abilities of 14 children with WS at two time points: as 4-year-olds during a 30-minute play-session with their mothers (Time 1 and an average of 5.87 years later during a one-on-one conversation with a familiar researcher (Time 2. Children’s intellectual and expressive vocabulary abilities were assessed at both time points. Results indicated that the ability to verbally contribute information beyond what was required in response to a question was significantly related to the ability to verbally contribute new information in the absence of a question both at age 4 years and during primary school. At age 4, both the ability to pair verbalizations with eye contact (intersubjectivity and expressive vocabulary ability were related to the ability to verbally contribute information beyond what was expected within a social interaction. Finally, the ability to verbally contribute new information to a social interaction beyond what was required to answer a question and the ability to pair verbalizations with eye contact (intersubjectivity at age 4 years predicted the ability to verbally contribute new information beyond what was required to answer a question at age 9 – 12 years. The theoretical implications of our findings and the importance of early pragmatic language intervention for children who have WS are discussed.

  17. Longitudinal Associations between Triglycerides and Metabolic Syndrome Components in a Beijing Adult Population, 2007-2012.

    Science.gov (United States)

    Tao, Li-Xin; Yang, Kun; Liu, Xiang-Tong; Cao, Kai; Zhu, Hui-Ping; Luo, Yan-Xia; Guo, Jin; Wu, Li-Juan; Li, Xia; Guo, Xiu-Hua

    2016-01-01

    Longitudinal associations between triglycerides (TG) and other metabolic syndrome (MetS) components have rarely been reported. The purpose was to investigate the longitudinal association between TG and other MetS components with time. The longitudinal study was established in 2007 on individuals who attended health check-ups at Beijing Tongren Hospital and Beijing Xiaotangshan Hospital. Data used in this study was based on 7489 participants who had at least three health check-ups over a period of 5-year follow up. Joint model was used to explore longitudinal associations between TG and other MetS components after adjusted for age. There were positive correlations between TG and other MetS components except for high density lipoprotein (HDL), and the correlations increased with time. A negative correlation was displayed between TG and HDL, and the correlation also increased with time. Among all five pairs of TG and other MetS components, the marginal correlation between TG and body mass index (BMI) was the largest for both men and women. The marginal correlation between TG and fasting plasma glucose was the smallest for men, while the marginal correlation between TG and diastolic blood pressure was the smallest for women. The longitudinal association between TG and other MetS components increased with time. Among five pairs of TG and other MetS components, the longitudinal correlation between TG and BMI was the largest. It is important to closely monitor subjects with high levels of TG and BMI in health check-up population especially for women, because these two components are closely associated with development of hypertension, diabetes, cardiovascular disease and other metabolic diseases.

  18. Experience of 49 longitudinal intestinal lengthening procedures for short bowel syndrome.

    Science.gov (United States)

    Hosie, S; Loff, S; Wirth, H; Rapp, H-J; von Buch, C; Waag, K-L

    2006-06-01

    Forty-nine patients with a mean age of 25 months underwent a longitudinal intestinal lengthening procedure for short bowel syndrome (SBS) in our institution. Indications for the operation were dependence on parenteral nutrition in spite of adequate conservative management. The small bowel was lengthened from a mean of 27 cm to a mean of 51 cm. There was no intraoperative mortality. The following early complications occurred in our early series: ischemia of a short bowel segment of 2 cm, requiring resection in two patients, insufficiency of the longitudinal anastomosis in two patients and an intra-abdominal abscess in one. Four of 9 non-survivors died of liver failure and 3 of sepsis. Follow-up showed that 19 patients were weaned from parenteral nutrition after a mean of 9.1 months. Long-term complications encountered were dismotility with malabsorption due to bacterial overgrowth caused by progressive dilatation of the bowel, d-lactic acidosis, cholelithiasis and urolithiasis. A longitudinal intestinal lengthening procedure is an effective and safe surgical approach for SBS, provided it is performed in time, the patient's preoperative condition is optimized and technical surgical details are taken into account.

  19. Therapy-related longitudinal brain perfusion changes in patients with chronic pelvic pain syndrome.

    Science.gov (United States)

    Weisstanner, Christian; Mordasini, Livio; Thalmann, George N; Verma, Rajeev K; Rummel, Christian; Federspiel, Andrea; Kessler, Thomas M; Wiest, Roland

    2017-08-03

    The imaging method most frequently employed to identify brain areas involved in neuronal processing of nociception and brain pain perception is blood oxygenation level-dependent (BOLD) magnetic resonance imaging (MRI). Arterial spin labelling (ASL), in contrast, offers advantages when slow varying changes in brain function are investigated. Chronic pelvic pain syndrome (CPPS) is a disorder of, mostly, young males that leads to altered pain perceptions in structures related to the pelvis. We aimed to investigate the potential of ASL to monitor longitudinal cranial blood flow (CBF) changes in patients with CPPS. In a randomised, placebo-controlled, double-blind single centre trial, we investigated treatment effects in CPPS after 12 weeks in patients that underwent sono-electro-magnetic therapy vs placebo. We investigated changes of CBF related to treatment outcome using pseudo-continuous arterial spin labelling (pCASL)-MRI. We observed CBF downregulation in the prefrontal cortex and anterior cingulate cortex and upregulation in the dorsolateral prefrontal cortex in responders. Nonresponders presented with CBF upregulation in the hippocampus. In patients with a history of CPPS of less than 12 months, there were significant correlations between longitudinal CBF changes and the Chronic Prostatitis Symptom Index pain subscore within the joint clusters anterior cingulate cortex and left anterior prefrontal cortex in responders, and the right hippocampus in nonresponders. We demonstrated therapy-related and stimulus-free longitudinal CBF changes in core areas of the pain matrix using ASL. ASL may act as a complementary noninvasive method to functional MRI and single-photon emission computed tomography / positron emission tomography, especially in the longitudinal assessment of pain response in clinical trials.

  20. Long-term outcome in patients with short bowel syndrome after longitudinal intestinal lengthening and tailoring.

    Science.gov (United States)

    Reinshagen, K; Kabs, C; Wirth, H; Hable, N; Brade, J; Zahn, K; Hagl, C; Jester, I; Waag, K L

    2008-11-01

    Longitudinal intestinal lengthening and tailoring (LILT) is a well-established surgical treatment for short bowel syndrome. It has been shown to enhance peristalsis, decrease bacterial overgrowth, and extend mucosal contact time for nutrients. We present the results of a long-term follow-up of patients who underwent LILT and define prognostic parameters for the survival of these patients. Between 1987 and 2006, 53 patients underwent LILT in our institution. The main diagnoses were gastroschisis, intestinal volvulus, intestinal atresias, and necrotizing enterocolitis. LILT was performed at a mean age of 24 months (range 4144 months). The follow-up time was 79.76 months (range 6234 months). After LILT, 41 of 53 patients survived, and 36 of 41 surviving patients were successfully weaned from parenteral nutrition (PN). In long-term follow-up 79% stayed free of PN. The overall survival rate was 77.36%. Weight gain occurred in 58% of the patients after LILT. The quality of life after LILT is on a high level, with most patients having normal physical strength and participating in normal social life and education. Prognostic factors for survival after LILT in short bowel syndrome are length of small intestine (0.06582 + 0.0131 x bowel cm), length of large bowel (P = 0.039), preoperative liver function, and successful weaning from PN within 18 months postoperatively (P = 0.0032). Patients undergoing LILT in short bowel syndrome have a high survival rate, weight gain, and a high quality of life. Autologous gastrointestinal reconstruction remains therefore the first choice in the treatment of patients with short bowel syndrome.

  1. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

    Science.gov (United States)

    Sherman, Stephanie L; Kidd, Sharon A; Riley, Catharine; Berry-Kravis, Elizabeth; Andrews, Howard F; Miller, Robert M; Lincoln, Sharyn; Swanson, Mark; Kaufmann, Walter E; Brown, W Ted

    2017-06-01

    Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection. This report describes FORWARD and the way it can be used to improve health and quality of life of FXS patients and their relatives and caregivers. FORWARD collects demographic information on individuals with FXS and their family members (affected and unaffected) through a 1-time registry form. The longitudinal database collects clinician- and parent-reported data on individuals diagnosed with FXS, focused on those who are 0 to 24 years of age, although individuals of any age can participate. The registry includes >2300 registrants (data collected September 7, 2009 to August 31, 2014). The longitudinal database includes data on 713 individuals diagnosed with FXS (data collected September 7, 2012 to August 31, 2014). Longitudinal data continue to be collected on enrolled patients along with baseline data on new patients. FORWARD represents the largest resource of clinical and demographic data for the FXS population in the United States. These data can be used to advance our understanding of FXS: the impact of cooccurring conditions, the impact on the day-to-day lives of individuals living with FXS and their families, and short-term and long-term outcomes. Copyright © 2017 by the American Academy of Pediatrics.

  2. Longitudinal ophthalmic findings in a child with Helsmoortel-Van der Aa Syndrome

    Directory of Open Access Journals (Sweden)

    Michael J. Gale

    2018-06-01

    Full Text Available Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS, including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration. Conclusions and importance: Patients with HVDAS are known to have abnormal visual behavior due to refractive or cortical impairment. However, we present the first description, to our knowledge, of an association with retinal mal-development and degeneration. Thus, patients with HVDAS should be referred for ophthalmic genetics evaluation, and HVDAS should be on the differential diagnosis for young children with global developmental delay who present with nystagmus, rod and cone dysfunction with electronegative waveform, and relative lack of severe structural degeneration on optical coherence tomography. Keywords: Helsmoortel-Van der Aa Syndrome, HVDAS, Activity-dependent neuroprotective protein, ADNP, Nystagmus, Retinal degeneration, Electronegative waveform, Optical coherence tomography

  3. Quality of life in patients with depression, panic syndrome, other anxiety syndrome, alcoholism and chronic somatic diseases: a longitudinal study in Slovenian primary care patients.

    Science.gov (United States)

    Cerne, Anja; Rifel, Janez; Rotar-Pavlic, Danica; Svab, Igor; Selic, Polona; Kersnik, Janko

    2013-01-01

    To analyse the correlates between the quality of life and chronic diseases and socio-demographic characteristics of patients in family medicine with a special emphasis on depression, panic syndrome, other anxiety syndrome and alcoholism. In a longitudinal study, the data set of 516 family practice attendees recruited from 60 family practices was analysed. Depression, panic syndrome, other anxiety syndrome and alcoholism were diagnosed using appropriate diagnostic interviews. Quality of life was assessed using the SF-12 questionnaire, measuring a mental health score and a physical health score. Data about the number of chronic somatic diseases were obtained from the patients' medical records. Physical health score was negatively associated with higher age (β = -0.25, p chronic somatic diseases (β = -0.10, p chronic somatic diseases as they are associated with poorer quality of life.

  4. Objective assessments of longitudinal outcome in Gilles de la Tourette's syndrome.

    Science.gov (United States)

    Pappert, E J; Goetz, C G; Louis, E D; Blasucci, L; Leurgans, S

    2003-10-14

    To define the long-term outcome in Gilles de la Tourette syndrome (GTS) using objective rating measures. Previous historical studies suggest spontaneous improvement of tic symptoms after adolescence, but objective longitudinal data are limited. The authors reviewed all videotapes in their database (1978 through 1991) of children with GTS (ages 8 to 14) who were seen in their tertiary care movement disorder center and underwent a standardized 5-minute filming protocol (n = 56). Through multiple contact methods, they successfully located 36 of these patients, who are now adults (age >20 years), and recruited 31 (28 men and 3 women) to volunteer for a second videotape and in-person assessment. A blinded rater evaluated the 62 tapes and rated five tic domains: body areas involved, motor and phonic tic frequency, and motor and phonic tic severity. Using standardized GTS videotape rating scale and Wilcoxon signed-rank tests with Bonferroni correction for multiple comparisons, the authors compared the two videotapes for each tic domain as well as the composite tic disability score. Ninety percent of adult patients still had tics. Adult patients who considered themselves tic-free were often inaccurate in their self-assessment: 50% had objective evidence of tics. Mean objective tic disability diminished in comparison to childhood (mean composite tic disability score childhood 9.58 vs adulthood 7.52, p = 0.014). All domains improved by adulthood, and significant improvements occurred in motor tic severity (p = 0.008). The improvements in tic disability did not relate to medication use, as only 13% of adults received medications for tics, compared with 81% of children. In GTS syndrome, tics objectively improve over time but most adults have persistent tics.

  5. Metabolic Syndrome Prevalence and Associations in a Bariatric Surgery Cohort from the Longitudinal Assessment of Bariatric Surgery-2 Study

    Science.gov (United States)

    Selzer, Faith; Smith, Mark D.; Berk, Paul D.; Courcoulas, Anita P.; Inabnet, William B.; King, Wendy C.; Pender, John; Pomp, Alfons; Raum, William J.; Schrope, Beth; Steffen, Kristine J.; Wolfe, Bruce M.; Patterson, Emma J.

    2014-01-01

    Abstract Background: Metabolic syndrome is associated with higher risk for cardiovascular disease, sleep apnea, and nonalcoholic steatohepatitis, all common conditions in patients referred for bariatric surgery, and it may predict early postoperative complications. The objective of this study was to determine the prevalence of metabolic syndrome, defined using updated National Cholesterol Education Program criteria, in adults undergoing bariatric surgery and compare the prevalence of baseline co-morbid conditions and select operative and 30-day postoperative outcomes by metabolic syndrome status. Methods: Complete metabolic syndrome data were available for 2275 of 2458 participants enrolled in the Longitudinal Assessment of Bariatric Surgery-2 (LABS-2), an observational cohort study designed to evaluate long-term safety and efficacy of bariatric surgery in obese adults. Results: The prevalence of metabolic syndrome was 79.9%. Compared to those without metabolic syndrome, those with metabolic syndrome were significantly more likely to be men, to have a higher prevalence of diabetes and prior cardiac events, to have enlarged livers and higher median levels of liver enzymes, a history of sleep apnea, and a longer length of stay after surgery following laparoscopic Roux-en-Y gastric bypass (RYGB) and gastric sleeves but not open RYGB or laparoscopic adjustable gastric banding. Metabolic syndrome status was not significantly related to duration of surgery or rates of composite end points of intraoperative events and 30-day major adverse surgical outcomes. Conclusions: Nearly four in five participants undergoing bariatric surgery presented with metabolic syndrome. Establishing a diagnosis of metabolic syndrome in bariatric surgery patients may identify a high-risk patient profile, but does not in itself confer a higher risk for short-term adverse postsurgery outcomes. PMID:24380645

  6. The Metabolic Syndrome Predicts Longitudinal Changes in Clock Drawing Test Performance in Older Nondemented Hypertensive Individuals.

    Science.gov (United States)

    Viscogliosi, Giovanni; Chiriac, Iulia Maria; Andreozzi, Paola; Ettorre, Evaristo

    2016-05-01

    The present study evaluated the metabolic syndrome (MetS) as independent predictor of 1-year longitudinal changes in cognitive function. 104 stroke- and dementia-free older hypertensive subjects were studied. MetS was defined by NCEP ATP-III criteria. Cognitive function was assessed by the Clock Drawing Test (CDT); 1-year changes in cognitive function were expressed as annual changes in CDT performance. Brain magnetic resonance imaging studies (1.5T) were performed. Participants with MetS exhibited greater cognitive decline than those without (-1.78 ± 1.47 versus -0.74 ± 1.44 CDT points, t = 3.348, df = 102, p < 0.001). MetS predicted cognitive decline (β = -0.327, t = -3.059, df = 96, p = 0.003) independently of its components, age, baseline cognition, neuroimaging findings, blood pressure levels, and duration of hypertension. With the exception of systolic blood pressure, none of the individual components of MetS explained 1-year changes in CDT performance. MetS as an entity predicted accelerated 1-year decline in cognitive function, assessed by CDT, in a sample of older hypertensive subjects. Copyright © 2016 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  7. Associations Between Geriatric Syndromes and Mortality in Community-Dwelling Elderly: Results of a National Longitudinal Study in Taiwan.

    Science.gov (United States)

    Huang, Chi-Chang; Lee, Jenq-Daw; Yang, Deng-Chi; Shih, Hsin-I; Sun, Chien-Yao; Chang, Chia-Ming

    2017-03-01

    Although geriatric syndromes have been studied extensively, their interactions with one another and their accumulated effects on life expectancy are less frequently discussed. This study examined whether geriatric syndromes and their cumulative effects are associated with risks of mortality in community-dwelling older adults. Data were collected from the Taiwan Longitudinal Study in Aging in 2003, and the participant survival status was followed until December 31, 2007. A total of 2744 participants aged ≥65 years were included in this retrospective cohort study; 634 died during follow-up. Demographic factors, comorbidities, health behaviors, and geriatric syndromes, including underweight, falls, functional impairment, depressive condition, and cognitive impairment, were assessed. Cox proportional hazard regression analysis was used to estimate the hazard ratios (HRs) and 95% confidence intervals (CIs) for the probability of survival according to the cumulative number of geriatric syndromes. The prevalence of geriatric syndromes increased with age. Mortality was significantly associated with age ≥75 years; male sex; ≤6 years of education; history of stroke, malignancy; smoking; not drinking alcohol; and not exercising regularly. Geriatric syndromes, such as underweight, functional disability, and depressive condition, contributed to the risk of mortality. The accumulative model of geriatric syndromes also predicted higher risks of mortality (N = 1, HR 1.50, 95% CI 1.19-1.89; N = 2, HR 1.69, 95% CI 1.25-2.29; N ≥ 3, HR 2.43, 95% CI 1.62-3.66). Community-dwelling older adults who were male, illiterate, receiving institutional care, underweight, experiencing a depressive condition, functionally impaired, and engaging in poor health behavior were more likely to have a higher risk of mortality. The identification of geriatric syndromes might help to improve comprehensive care for community-dwelling older adults. Copyright © 2016 AMDA – The Society for

  8. The impact of longitudinal intestinal lengthening and tailoring on liver function in short bowel syndrome.

    Science.gov (United States)

    Reinshagen, K; Zahn, K; Buch, C von; Zoeller, M; Hagl, C I; Ali, M; Waag, K-L

    2008-08-01

    Short bowel syndrome is a functional or anatomic loss of major parts of the small bowel leading to severe malnutrition. The limiting factor for the survival of these patients remains parenteral nutrition-related liver damage leading to end-stage liver failure. Longitudinal intestinal lengthening and tailoring (LILT) has been proven to enhance peristalsis, to decrease bacterial overgrowth and to extend the mucosal contact time for the absorption of nutrients. The aim of this study was to show the impact of LILT on the development of parenteral nutrition-related liver damage. A cohort of 55 patients with short bowel syndrome managed with LILT in our institution between 1987 and 2007 was retrospectively reviewed. LILT was performed at a mean age of 24 months (range 4 - 150 months). Mean follow-up time was 83.76 months (range 5 - 240 months). We obtained reliable data from 31 patients with regard to liver enzymes and function parameters in blood samples before LILT and at the present time. Liver biopsy was performed in 14 patients prior to LILT. Liver enzymes ALAT (mean 121 U/l), ASAT (mean 166 U/l) and bilirubin (mean 2.49 mg/dl) were elevated preoperatively in 27/31 children. After the lengthening procedure, ALAT (mean 50 U/l), ASAT (mean 63 U/l) and bilirubin (mean 1.059 mg/dl) normalized except in 5 of 8 patients who could not be weaned from parenteral nutrition after LILT. Liver function parameters such as the international normal ratio (INR) were slightly elevated in 5/31 patients. Albumin was generally low, probably due to parenteral nutrition. Liver biopsy was performed in 14 patients preoperatively, showing 4 patients with low-grade, 6 patients with intermediate and 4 patients with high-grade fibrosis. End-stage liver disease with cirrhosis was an exclusion criterion for LILT. All patients with liver fibrosis showed a normalization of liver enzymes when they were weaned from parenteral nutrition. But patients with higher grade liver fibrosis tend to develop

  9. Longitudinal Effects of Metabolic Syndrome on Alzheimer and Vascular Related Brain Pathology

    Directory of Open Access Journals (Sweden)

    Feng Lin

    2014-06-01

    Full Text Available Background/Aims: This study examines the longitudinal effect of metabolic syndrome (MetS on brain-aging indices among cognitively normal (CN and amnestic mild cognitive impairment (aMCI groups [single-domain aMCI (saMCI and multiple-domain aMCI (maMCI]. Methods: The study population included 739 participants (CN = 226, saMCI = 275, and maMCI = 238 from the Alzheimer's Disease Neuroimaging Initiative, a clinic-based, multi-center prospective cohort. Confirmatory factor analysis was employed to determine a MetS latent composite score using baseline data of vascular risk factors. We examined the changes of two Alzheimer's disease (AD biomarkers, namely [18F]fluorodeoxyglucose (FDG-positron emission tomography (PET regions of interest and medial temporal lobe volume over 5 years. A cerebrovascular aging index, cerebral white matter (cWM volume, was examined as a comparison. Results: The vascular risk was similar in all groups. Applying generalized estimating equation modeling, all brain-aging indices declined significantly over time. Higher MetS scores were associated with a faster decline of cWM in the CN and maMCI groups but with a slower decrement of regional glucose metabolism in FDG-PET in the saMCI and maMCI groups. Conclusion: At the very early stage of cognitive decline, the vascular burden such as MetS may be in parallel with or independent of AD pathology in contributing to cognitive impairment in terms of accelerating the disclosure of AD pathology.

  10. A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

    Science.gov (United States)

    Bruserud, Øyvind; Oftedal, Bergithe E.; Landegren, Nils; Erichsen, Martina M.; Bratland, Eirik; Lima, Kari; Jørgensen, Anders P.; Myhre, Anne G.; Svartberg, Johan; Fougner, Kristian J.; Bakke, Åsne; Nedrebø, Bjørn G.; Mella, Bjarne; Breivik, Lars; Viken, Marte K.; Knappskog, Per M.; Marthinussen, Mihaela C.; Løvås, Kristian; Kämpe, Olle; Wolff, Anette B.

    2016-01-01

    Context: Autoimmune polyendocrine syndrome type 1 (APS1) is a childhood-onset monogenic disease defined by the presence of two of the three major components: hypoparathyroidism, primary adrenocortical insufficiency, and chronic mucocutaneous candidiasis (CMC). Information on longitudinal follow-up of APS1 is sparse. Objective: To describe the phenotypes of APS1 and correlate the clinical features with autoantibody profiles and autoimmune regulator (AIRE) mutations during extended follow-up (1996–2016). Patients: All known Norwegian patients with APS1. Results: Fifty-two patients from 34 families were identified. The majority presented with one of the major disease components during childhood. Enamel hypoplasia, hypoparathyroidism, and CMC were the most frequent components. With age, most patients presented three to five disease manifestations, although some had milder phenotypes diagnosed in adulthood. Fifteen of the patients died during follow-up (median age at death, 34 years) or were deceased siblings with a high probability of undisclosed APS1. All except three had interferon-ω) autoantibodies, and all had organ-specific autoantibodies. The most common AIRE mutation was c.967_979del13, found in homozygosity in 15 patients. A mild phenotype was associated with the splice mutation c.879+1G>A. Primary adrenocortical insufficiency and type 1 diabetes were associated with protective human leucocyte antigen genotypes. Conclusions: Multiple presumable autoimmune manifestations, in particular hypoparathyroidism, CMC, and enamel hypoplasia, should prompt further diagnostic workup using autoantibody analyses (eg, interferon-ω) and AIRE sequencing to reveal APS1, even in adults. Treatment is complicated, and mortality is high. Structured follow-up should be performed in a specialized center. PMID:27253668

  11. Retinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome.

    Science.gov (United States)

    Zmyslowska, Agnieszka; Fendler, Wojciech; Waszczykowska, Arleta; Niwald, Anna; Borowiec, Maciej; Jurowski, Piotr; Mlynarski, Wojciech

    2017-11-01

    Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim of the study was to evaluate retinal parameters by using optical coherence tomography (OCT) in WFS patients after 2 years of follow-up and analysis of the parameters in relation to visual acuity. OCT parameters and visual acuity were measured in 12 WFS patients and 31 individuals with type 1 diabetes. Total thickness of the retinal nerve fiber layer (RNFL), average retinal thickness and total retinal volume decreased in comparison with previous OCT examination. Significant decreases were noted for RNFL (average difference -17.92 µm 95% CI -30.74 to -0.10; p = 0.0157), macular average thickness (average difference -5.38 µm 95% CI -10.63 to -2.36; p = 0.0067) and total retinal volume (average difference -0.15 mm 3 95% CI -0.30 to -0.07; p = 0.0070). Central thickness remained unchanged (average difference 1.5 µm 95% CI -7.61 to 10.61; p = 0.71). Visual acuity of WFS patients showed a strong negative correlation with diabetes duration (R = -0.82; p = 0.0010). After division of WFS patients into two groups (with low-vision and blind patients), all OCT parameters except for the RNFL value were lower in blind WFS patients. OCT measures structural parameters and can precede visual acuity loss. The OCT study in WFS patients should be performed longitudinally, and serial retinal examinations may be helpful as a potential end point for future clinical trials.

  12. Hemi-convulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

    Energy Technology Data Exchange (ETDEWEB)

    Barcia,; Giulia,; Chemaly, Nicole; Dulac, Olivier; Nabbout, Rima [Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hopital Necker-Enfants malades, APHP, Paris (France); Inserm U663, Paris [France; University Paris Descartes, CEA, Gif sur Yvette (France); Desguerre, Isabelle; Carmona, Orietta; Barnerias, Christine; Gitiaux, Cyril [Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Hopital Necker-Enfants malades, APHP, Paris (France); Brunelle, Francis; Boddaert, Nathalie [Paediatric Radiology Department, Hopital Necker-Enfants malades, APHP, Paris, (France)

    2013-07-01

    Hemi-convulsion-hemiplegia syndrome (HHS) is a rare severe epilepsy of infancy consisting of unilateral convulsive status epilepticus immediately followed by transient or lasting ipsilateral hemiplegia. HHS may occur either in patients with previous brain pathology or without any identified cause, so-called 'idiopathic HHS'. We retrospectively analysed clinical and MRI longitudinal findings of a series of 10 patients (six females, four males) presenting with HHS. Age at the study inclusion ranged from 2 years 6 months to 15 years (mean of 5 y 10 mo, median 4 y 2 mo). After defining magnetic resonance imaging (MRI) features as 'typical', i.e. strictly unilateral involvement, and 'atypical', i.e. bilateral, we compared clinical data from both groups. Cognitive level was assessed using Brunet-Lezine or Wechsler scales. HHS occurred at a mean age of 20.5 months (range 8-48 mo). In all cases, status epilepticus lasted for more than 1 hour and was characterised by unilateral clonic seizures followed by ipsilateral hemiplegia (persistent in five patients). Two patients in this series died: the first from multi-organ failure 2 weeks after the status epilepticus and the other from a second episode of ipsilateral intractable febrile status epilepticus 3 years after the first episode. Early MRI (days 1-7 from status epilepticus) showed hemispheric cytotoxic oedema in all, extending to the contralateral side for one. T2 hyperintensity in the basal ganglia was disclosed in 70% of patients and in the hippocampus in 60%. After 1 month (in intermediate and chronic phases), all surviving patients but one showed hemispheric cortical atrophy corresponding to the regions involved during the early stage. Comparing clinical features of patients presenting with 'typical' features, to those with 'atypical' findings, the second group presented psychomotor delay before status epilepticus. This series underlines the major value of early MRI for the prompt diagnosis of HHS, and shows that

  13. Fasting glucose, obesity, and metabolic syndrome as predictors of type 2 diabetes: the Cooper Center Longitudinal Study.

    Science.gov (United States)

    DeFina, Laura F; Vega, Gloria Lena; Leonard, David; Grundy, Scott M

    2012-12-01

    To determine risk for type 2 diabetes in subjects with fasting glucose levels in the ranges of normoglycemia, mild hyperglycemia, and intermediate hyperglycemia and to assess the effect of obesity and metabolic syndrome on this risk. Incidence of type 2 diabetes mellitus was evaluated in 28,209 relatively healthy subjects participating in the Cooper Center Longitudinal Study. They were included in the study if they had more than 1 fasting plasma glucose measurement, anthropometry, and other parameters of interest. Three subgroups were identified: normoglycemic (obesity, and metabolic syndrome status. Incident diabetes was assessed at the earliest clinic visit at which the individual exhibited a blood glucose level of more than 7.0 mmol/L or reported a diagnosis of diabetes. Thirty-one percent of men and 15.9% of women had mild hyperglycemia and 11.9% of men and 3.6% of women had intermediate hyperglycemia. Yearly conversion rates to diabetes were low in individuals with normoglycemia and mild hyperglycemia but were strikingly higher in those with intermediate hyperglycemia. In subjects with intermediate hyperglycemia, presence of obesity and/or metabolic syndrome doubled conversion rates to diabetes. This study showed a marked difference in outcomes in subjects with mild and intermediate hyperglycemia. Moreover, obesity and metabolic syndrome were associated with strikingly elevated risk for diabetes in subjects with intermediate hyperglycemia. Thus intermediate hyperglycemia plus obesity/metabolic syndrome seemingly justifies intensive clinical intervention for prevention of both diabetes and cardiovascular disease.

  14. Sasang constitutional types for the risk prediction of metabolic syndrome: a 14-year longitudinal prospective cohort study.

    Science.gov (United States)

    Lee, Sunghee; Lee, Seung Ku; Kim, Jong Yeol; Cho, Namhan; Shin, Chol

    2017-09-02

    To examine whether the use of Sasang constitutional (SC) types, such as Tae-yang (TY), Tae-eum (TE), So-yang (SY), and So-eum (SE) types, increases the accuracy of risk prediction for metabolic syndrome. From 2001 to 2014, 3529 individuals aged 40 to 69 years participated in a longitudinal prospective cohort. The Cox proportional hazard model was utilized to predict the risk of developing metabolic syndrome. During the 14 year follow-up, 1591 incident events of metabolic syndrome were observed. Individuals with TE type had higher body mass indexes and waist circumferences than individuals with SY and SE types. The risk of developing metabolic syndrome was the highest among individuals with the TE type, followed by the SY type and the SE type. When the prediction risk models for incident metabolic syndrome were compared, the area under the curve for the model using SC types was significantly increased to 0.8173. Significant predictors for incident metabolic syndrome were different according to the SC types. For individuals with the TE type, the significant predictors were age, sex, body mass index (BMI), education, smoking, drinking, fasting glucose level, high-density lipoprotein (HDL) cholesterol level, systolic and diastolic blood pressure, and triglyceride level. For Individuals with the SE type, the predictors were sex, smoking, fasting glucose, HDL cholesterol level, systolic and diastolic blood pressure, and triglyceride level, while the predictors in individuals with the SY type were age, sex, BMI, smoking, drinking, total cholesterol level, fasting glucose level, HDL cholesterol level, systolic and diastolic blood pressure, and triglyceride level. In this prospective cohort study among 3529 individuals, we observed that utilizing the SC types significantly increased the accuracy of the risk prediction for the development of metabolic syndrome.

  15. Hemi-convulsion-hemiplegia syndrome revisited: longitudinal MRI findings in 10 children

    International Nuclear Information System (INIS)

    Barcia; Giulia; Chemaly, Nicole; Dulac, Olivier; Nabbout, Rima; Desguerre, Isabelle; Carmona, Orietta; Barnerias, Christine; Gitiaux, Cyril; Brunelle, Francis; Boddaert, Nathalie

    2013-01-01

    Hemi-convulsion-hemiplegia syndrome (HHS) is a rare severe epilepsy of infancy consisting of unilateral convulsive status epilepticus immediately followed by transient or lasting ipsilateral hemiplegia. HHS may occur either in patients with previous brain pathology or without any identified cause, so-called 'idiopathic HHS'. We retrospectively analysed clinical and MRI longitudinal findings of a series of 10 patients (six females, four males) presenting with HHS. Age at the study inclusion ranged from 2 years 6 months to 15 years (mean of 5 y 10 mo, median 4 y 2 mo). After defining magnetic resonance imaging (MRI) features as 'typical', i.e. strictly unilateral involvement, and 'atypical', i.e. bilateral, we compared clinical data from both groups. Cognitive level was assessed using Brunet-Lezine or Wechsler scales. HHS occurred at a mean age of 20.5 months (range 8-48 mo). In all cases, status epilepticus lasted for more than 1 hour and was characterised by unilateral clonic seizures followed by ipsilateral hemiplegia (persistent in five patients). Two patients in this series died: the first from multi-organ failure 2 weeks after the status epilepticus and the other from a second episode of ipsilateral intractable febrile status epilepticus 3 years after the first episode. Early MRI (days 1-7 from status epilepticus) showed hemispheric cytotoxic oedema in all, extending to the contralateral side for one. T2 hyperintensity in the basal ganglia was disclosed in 70% of patients and in the hippocampus in 60%. After 1 month (in intermediate and chronic phases), all surviving patients but one showed hemispheric cortical atrophy corresponding to the regions involved during the early stage. Comparing clinical features of patients presenting with 'typical' features, to those with 'atypical' findings, the second group presented psychomotor delay before status epilepticus. This series underlines the major value of early MRI

  16. Longitudinal trajectories of intellectual and adaptive functioning in adolescents and adults with Williams syndrome.

    Science.gov (United States)

    Fisher, M H; Lense, M D; Dykens, E M

    2016-10-01

    Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because of the low prevalence of the syndrome, researchers often include participants with WS across a broad age range throughout childhood and adulthood and assume participants demonstrate consistent cognitive development across ages. Indeed, IQ scores are generally stable for children and adolescents with WS, although there are significant individual differences. It is less clear whether this pattern of stable intellectual ability persists into adulthood. Furthermore, while adaptive behaviour is an important indicator of an individual's ability to apply their conceptual skills to everyday functioning, conflicting findings on the trajectories of adaptive behaviour in adolescents and adults with WS have been reported. The current study examined longitudinal profiles of cognitive and adaptive functioning in adolescents and adults with WS. To examine cognitive functioning, participants included 52 individuals with WS (51.9% men) who were assessed with the Kaufman Brief Intelligence Test, 2nd edition (KBIT-2) between two and seven times. At their first assessment, participants had a mean age of 25.4 years (SD = 8.4), ranging in age from 14.2 to 48.9 years. To assess adaptive behaviour, participants included a subset of 28 individuals with WS whose parents completed the Vineland Adaptive Behavior Scale, 2nd edition (VABS-II) between two and five times. At their initial administration, participants ranged from 17.1-40.2 years of age, with a mean age of 26.5 years (SD = 7.3). A series of multilevel models were used to examine changes in KBIT-2 Composite IQ, Verbal IQ and Nonverbal IQ standard scores over time, as well as the

  17. Development of the metabolic syndrome in black and white adolescent girls : A longitudinal assessment

    NARCIS (Netherlands)

    Morrison, JA; Friedman, LA; Harlan, WR; Harlan, LC; Barton, BA; Schreiber, GB; Klein, DJ

    Background. The metabolic syndrome, associated with increased risk of type 2 diabetes mellitus and cardiovascular disease, begins to develop during adolescence. Objective. We sought to identify early predictors of the presence of the syndrome at the ages of 18 and 19 years in black and white girls.

  18. Development of the metabolic syndrome in black and white adolescent girls : A longitudinal assessment

    NARCIS (Netherlands)

    Morrison, JA; Friedman, LA; Harlan, WR; Harlan, LC; Barton, BA; Schreiber, GB; Klein, DJ

    2005-01-01

    Background. The metabolic syndrome, associated with increased risk of type 2 diabetes mellitus and cardiovascular disease, begins to develop during adolescence. Objective. We sought to identify early predictors of the presence of the syndrome at the ages of 18 and 19 years in black and white girls.

  19. Impact of a national smoking ban on hospital admission for acute coronary syndromes: a longitudinal study.

    LENUS (Irish Health Repository)

    Cronin, Edmond M

    2012-04-01

    A ban on smoking in the workplace was introduced in Ireland on March 29, 2004. As exposure to secondhand smoke has been implicated in the development of coronary disease, this might impact the incidence of acute coronary syndromes (ACS).

  20. Longitudinal Assessment of Intellectual Abilities of Children with Williams Syndrome: Multilevel Modeling of Performance on the Kaufman Brief Intelligence Test--Second Edition

    Science.gov (United States)

    Mervis, Carolyn B.; Kistler, Doris J.; John, Angela E.; Morris, Colleen A.

    2012-01-01

    Multilevel modeling was used to address the longitudinal stability of standard scores (SSs) measuring intellectual ability for children with Williams syndrome (WS). Participants were 40 children with genetically confirmed WS who completed the Kaufman Brief Intelligence Test--Second Edition (KBIT-2; A. S. Kaufman & N. L. Kaufman, 2004) 4-7…

  1. Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome : A Randomized Controlled Trial and Longitudinal Study

    NARCIS (Netherlands)

    Siemensma, Elbrich P. C.; van Wijngaarden, Roderick F. A. Tummers-de Lind; Festen, Dederieke A. M.; Troeman, Zyrhea C. E.; van Alfen-van der Velden, A. A. E. M. (Janielle); Otten, Barto J.; Rotteveel, Joost; Odink, Roelof J. H.; Bindels-de Heus, G. C. B. (Karen); van Leeuwen, Mariette; Haring, Danny A. J. P.; Oostdijk, Wilma; Bocca, Gianni; Houdijk, E. C. A. Mieke; van Trotsenburg, A. S. Paul; Hoorweg-Nijman, J. J. Gera; van Wieringen, Hester; Vreuls, Rene C. F. M.; Jira, Petr E.; Schroor, Eelco J.; van Pinxteren-Nagler, Evelyn; Pilon, Jan Willem; Lunshof, L. (Bert); Hokken-Koelega, Anita C. S.

    Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr

  2. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

    NARCIS (Netherlands)

    Siemensma, E.P.C.; Tummers-de Lind van Wijngaarden, R.F.; Festen, D.A.M.; Troeman, Z.C.; Alfen-van der Velden, A.A.E.M. van; Otten, B.J.; Rotteveel, J.J.; Odink, R.J.; Bindels-de Heus, G.C.; Leeuwen, M. van; Haring, D.A.; Oostdijk, W.; Bocca, G.; Mieke Houdijk, E.C.; Trotsenburg, A.S. van; Hoorweg-Nijman, J.J.G.; Wieringen, H. van; Vreuls, R.C.; Jira, P.E.; Schroor, E.J.; Pinxteren-Nagler, E. van; Willem Pilon, J.; Lunshof, L.B.; Hokken-Koelega, A.C.S.

    2012-01-01

    BACKGROUND: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. METHODS: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr

  3. Beneficial Effects of Growth Hormone Treatment on Cognition in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study

    NARCIS (Netherlands)

    Siemensma, Elbrich P. C.; Tummers-de Lind van Wijngaarden, Roderick F. A.; Festen, Dederieke A. M.; Troeman, Zyrhea C. E.; van Alfen-van der Velden, A. A. E. M. Janielle; Otten, Barto J.; Rotteveel, Joost; Odink, Roelof J. H.; Bindels-de Heus, G. C. B. Karen; van Leeuwen, Mariette; Haring, Danny A. J. P.; Oostdijk, Wilma; Bocca, Gianni; Mieke Houdijk, E. C. A.; van Trotsenburg, A. S. Paul; Hoorweg-Nijman, J. J. Gera; van Wieringen, Hester; Vreuls, René C. F. M.; Jira, Petr E.; Schroor, Eelco J.; van Pinxteren-Nagler, Evelyn; Willem Pilon, Jan; Lunshof, L. Bert; Hokken-Koelega, Anita C. S.

    2012-01-01

    Background: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr

  4. Beneficial effects of growth hormone treatment on cognition in children with prader-willi syndrome: A randomized controlled trial and longitudinal study

    NARCIS (Netherlands)

    E.P.C. Siemensma (Elbrich); R.F.A. Tummers-de Lind Van Wijngaarden (Roderick F.); D.A.M. Festen (Dederieke); Z.C.E. Troeman (Zyrhea C.); A.A.E.M. van der Alfen-van Der Velden; B.J. Otten (Barto); J. Rotteveel (Joost); R.J.H. Odink (Roelof); G.C.B. Bindels-de Heus (Karen); M. van Leeuwen (Mariëtte); D.A.J.P. Haring (Danny); W. Oostdijk (Wilma); G. Bocca (Gianni); E.C.A.M. Houdijk (Mieke); A.S.P. van Trotsenburg (Paul); J.J.G. Hoorweg-Nijman (Gera); H. van Wieringen (Hester); R.C.F.M. Vreuls (René); P.E. Jira (Petr); E.J. Schroor (Eelco); E. van Pinxteren-Nagler (Evelyn); J.W. Pilon; S. Lunshof (Simone); A.C.S. Hokken-Koelega (Anita)

    2012-01-01

    textabstractBackground: Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Methods: Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study

  5. PET Imaging of Tau Pathology and Relationship to Amyloid, Longitudinal MRI, and Cognitive Change in Down Syndrome: Results from the Down Syndrome Biomarker Initiative (DSBI).

    Science.gov (United States)

    Rafii, Michael S; Lukic, Ana S; Andrews, Randolph D; Brewer, James; Rissman, Robert A; Strother, Stephen C; Wernick, Miles N; Pennington, Craig; Mobley, William C; Ness, Seth; Matthews, Dawn C

    2017-01-01

    Adults with Down syndrome (DS) represent an enriched population for the development of Alzheimer's disease (AD), which could aid the study of therapeutic interventions, and in turn, could benefit from discoveries made in other AD populations. 1) Understand the relationship between tau pathology and age, amyloid deposition, neurodegeneration (MRI and FDG PET), and cognitive and functional performance; 2) detect and differentiate AD-specific changes from DS-specific brain changes in longitudinal MRI. Twelve non-demented adults, ages 30 to 60, with DS were enrolled in the Down Syndrome Biomarker Initiative (DSBI), a 3-year, observational, cohort study to demonstrate the feasibility of conducting AD intervention/prevention trials in adults with DS. We collected imaging data with 18F-AV-1451 tau PET, AV-45 amyloid PET, FDG PET, and volumetric MRI, as well as cognitive and functional measures and additional laboratory measures. All amyloid negative subjects imaged were tau-negative. Among the amyloid positive subjects, three had tau in regions associated with Braak stage VI, two at stage V, and one at stage II. Amyloid and tau burden correlated with age. The MRI analysis produced two distinct volumetric patterns. The first differentiated DS from normal (NL) and AD, did not correlate with age or amyloid, and was longitudinally stable. The second pattern reflected AD-like atrophy and differentiated NL from AD. Tau PET and MRI atrophy correlated with several cognitive and functional measures. Tau accumulation is associated with amyloid positivity and age, as well as with progressive neurodegeneration measurable using FDG and MRI. Tau correlates with cognitive decline, as do AD-specific hypometabolism and atrophy.

  6. Serum Calcium and the Risk of Incident Metabolic Syndrome: A 4.3-Year Retrospective Longitudinal Study

    Directory of Open Access Journals (Sweden)

    Jong Ha Baek

    2017-01-01

    Full Text Available BackgroundAn association between serum calcium level and risk of metabolic syndrome (MetS has been suggested in cross-sectional studies. This study aimed to evaluate the association between baseline serum calcium level and risk of incident MetS in a longitudinal study.MethodsWe conducted a retrospective longitudinal study of 12,706 participants without MetS who participated in a health screening program, had normal range serum calcium level at baseline (mean age, 51 years, and were followed up for 4.3 years (18,925 person-years. The risk of developing MetS was analyzed according to the baseline serum calcium levels.ResultsA total of 3,448 incident cases (27.1% of MetS developed during the follow-up period. The hazard ratio (HR for incident MetS did not increase with increasing tertile of serum calcium level in an age- and sex-matched model (P for trend=0.915. The HRs (95% confidence interval [CI] for incident MetS comparing the second and the third tertiles to the first tertile of baseline serum calcium level were 0.91 (95% CI, 0.84 to 0.99 and 0.85 (95% CI, 0.78 to 0.92 in a fully adjusted model, respectively (P for trend=0.001. A decreased risk of incident MetS in higher tertiles of serum calcium level was observed in subjects with central obesity and/or a metabolically unhealthy state at baseline.ConclusionThere was no positive correlation between baseline serum calcium levels and incident risk of MetS in this longitudinal study. There was an association between higher serum calcium levels and decreased incident MetS in individuals with central obesity or two components of MetS at baseline.

  7. Longitudinal weight gain in women identified with polycystic ovary syndrome: results of an observational study in young women.

    Science.gov (United States)

    Teede, Helena J; Joham, Anju E; Paul, Eldho; Moran, Lisa J; Loxton, Deborah; Jolley, Damien; Lombard, Catherine

    2013-08-01

    Polycystic ovary syndrome (PCOS) affects 6-18% of women. The natural history of weight gain in women with PCOS has not been well described. Here we aimed to examine longitudinal weight gain in women with and without PCOS and to assess the association between obesity and PCOS prevalence. The observational study was set in the general community. Participants were women randomly selected from the national health insurance scheme (Medicare) database. Mailed survey data were collected by the Australian Longitudinal Study on Women's Health. Data from respondents to survey 4, aged 28-33 years (2006, n = 9,145) were analyzed. The main outcome measures were PCOS prevalence and body mass index (BMI). Self-reported PCOS prevalence was 5.8% (95% CI: 5.3%-6.4%). Women reporting PCOS had higher weight, mean BMI [2.5 kg/m(2) (95% CI: 1.9-3.1)], and greater 10-year weight gain [2.6 kg (95% CI: 1.2-4.0)]. BMI was the strongest correlate of PCOS status with every BMI increment increasing the risk of reporting PCOS by 9.2% (95% CI: 6%-12%). This community based observational study with longitudinal reporting of weight shows that weight, BMI, and 10-year weight gain were higher in PCOS. We report the novel finding that obesity and greater weight gain are significantly associated with PCOS status. Considering the prevalence, major health and economic burden of PCOS, the increasing weight gain in young women, and established benefits of weight loss, these results have major public health implications. Copyright © 2012 The Obesity Society.

  8. Longitudinal Changes in Intellectual Development in Children with Fragile X Syndrome

    Science.gov (United States)

    Hall, Scott S.; Burns, David D.; Lightbody, Amy A.; Reiss, Allan L.

    2008-01-01

    Structural equation modeling (SEM) was used to examine the development of intellectual functioning in 145 school-age pairs of siblings. Each pair included one child with Fragile X syndrome (FXS) and one unaffected sibling. All pairs of children were evaluated on the Wechsler Intelligence Scale for Children-Third Edition (WISC-III) at time 1 and 80…

  9. Longitudinal Trajectories of Intellectual and Adaptive Functioning in Adolescents and Adults with Williams Syndrome

    Science.gov (United States)

    Fisher, M. H.; Lense, M. D.; Dykens, E. M.

    2016-01-01

    Background: Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because…

  10. NOD mouse model for Sjögren's syndrome: lack of longitudinal stability

    NARCIS (Netherlands)

    Lodde, B. M.; Mineshiba, F.; Kok, M. R.; Wang, J.; Zheng, C.; Schmidt, M.; Cotrim, A. P.; Kriete, M.; Tak, P. P.; Baum, B. J.

    2006-01-01

    OBJECTIVES: The non-obese diabetic (NOD) mouse is not only a widely used model for diabetes mellitus type I, but also for the chronic autoimmune disease Sjögren's syndrome (SS), mainly affecting salivary and lacrimal glands. We studied the efficacy of local recombinant serotype 2 adeno-associated

  11. Ageing and Dementia in a Longitudinal Study of a Cohort with Down Syndrome

    Science.gov (United States)

    Carr, Janet; Collins, Suzanne

    2014-01-01

    Background: A population sample of people with Down syndrome has been studied from infancy and has now been followed up again at age 47 years. Methods: Intelligence and language skills were tested and daily living skills assessed. Memory/cognitive deterioration was examined using two test instruments. Results: Scores on verbal tests of…

  12. A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome.

    Science.gov (United States)

    McCarron, M; McCallion, P; Reilly, E; Dunne, P; Carroll, R; Mulryan, N

    2017-09-01

    To examine dementia characteristics, age at onset and associated co-morbidities in persons with Down syndrome. A total of 77 people with Down syndrome aged 35 years and older were followed up from 1996 to 2015. The diagnosis of dementia was established using the modified ICD 10 Criteria and a combination of objective and informant-based tests. Cognitive tests included the Test for Severe Impairment and the Down Syndrome Mental Status Examination; adaptive behaviour was measured using the Daily Living Skills Questionnaire, and data from the Dementia Questionnaire for People with Intellectual Disabilities have been available since 2005. Over the 20-year period, 97.4% (75 of 77) persons developed dementia with a mean age of dementia diagnosis of 55 years (SD = 7.1, median = 56 years). Clinical dementia was associated with cognitive and function decline and seizure activity. Risk for dementia increased from 23% in those aged 50 years to 80% in those aged 65 years and above. There were no differences by level of ID. The previously reported high risk levels for dementia among people with Down syndrome were confirmed in this data as was the relationship with late onset epilepsy. The value of the instruments utilised in tracking decline and helping to confirm diagnosis is further highlighted. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  13. Testicular failure in boys with Prader-Willi syndrome: Longitudinal studies of reproductive hormones

    NARCIS (Netherlands)

    E.P.C. Siemensma (Elbrich); R.F.A. De Lind Van Wijngaarden (Roderick F.); B.J. Otten (Barto); F.H. de Jong (Frank); A.C.S. Hokken-Koelega (Anita)

    2012-01-01

    textabstractContext: The pathophysiology of hypogonadism in boys with Prader-Willi Syndrome( PWS) remains uncertain. Several reports described hypogonadotropic hypogonadism, some reported primary gonadal failure, and others a combination of both. Objectives: The aim of the study was to evaluate

  14. Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones.

    NARCIS (Netherlands)

    Siemensma, E.P.C.; Lind van Wijngaarden, R.F. de; Otten, B.J.; Jong, F.H. de; Hokken-Koelega, A.C.S.

    2012-01-01

    CONTEXT: The pathophysiology of hypogonadism in boys with Prader-Willi Syndrome (PWS) remains uncertain. Several reports described hypogonadotropic hypogonadism, some reported primary gonadal failure, and others a combination of both. OBJECTIVES: The aim of the study was to evaluate gonadal function

  15. Resting-state functional connectivity predicts longitudinal pain symptom change in urologic chronic pelvic pain syndrome: a MAPP network study.

    Science.gov (United States)

    Kutch, Jason J; Labus, Jennifer S; Harris, Richard E; Martucci, Katherine T; Farmer, Melissa A; Fenske, Sonja; Fling, Connor; Ichesco, Eric; Peltier, Scott; Petre, Bogdan; Guo, Wensheng; Hou, Xiaoling; Stephens, Alisa J; Mullins, Chris; Clauw, Daniel J; Mackey, Sean C; Apkarian, A Vania; Landis, J Richard; Mayer, Emeran A

    2017-06-01

    Chronic pain symptoms often change over time, even in individuals who have had symptoms for years. Studying biological factors that predict trends in symptom change in chronic pain may uncover novel pathophysiological mechanisms and potential therapeutic targets. In this study, we investigated whether brain functional connectivity measures obtained from resting-state functional magnetic resonance imaging at baseline can predict longitudinal symptom change (3, 6, and 12 months after scan) in urologic chronic pelvic pain syndrome. We studied 52 individuals with urologic chronic pelvic pain syndrome (34 women, 18 men) who had baseline neuroimaging followed by symptom tracking every 2 weeks for 1 year as part of the Multidisciplinary Approach to the Study of Chronic Pelvic Pain (MAPP) Research Network study. We found that brain functional connectivity can make a significant prediction of short-term (3 month) pain reduction with 73.1% accuracy (69.2% sensitivity and 75.0% precision). In addition, we found that the brain regions with greatest contribution to the classification were preferentially aligned with the left frontoparietal network. Resting-state functional magnetic resonance imaging measures seemed to be less informative about 6- or 12-month symptom change. Our study provides the first evidence that future trends in symptom change in patients in a state of chronic pain may be linked to functional connectivity within specific brain networks.

  16. Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome

    DEFF Research Database (Denmark)

    Christiansen, P; Andersson, A-M; Skakkebaek, N E

    2003-01-01

    ) and 11 controls were followed with longitudinal serum inhibin B measurements every 3-12 months as they approached and entered puberty. None of the boys had significant bone age delay, and all entered puberty at the normal time and progressed through it at the expected time. In addition, 15 young adults....../unmeasurable levels observed later in adult KS, while remaining unchanged in the controls....

  17. Longitudinal MRI assessment: the identification of relevant features in the development of Posterior Fossa Syndrome in children

    Science.gov (United States)

    Spiteri, M.; Lewis, E.; Windridge, D.; Avula, S.

    2015-03-01

    Up to 25% of children who undergo brain tumour resection surgery in the posterior fossa develop posterior fossa syndrome (PFS). This syndrome is characterised by mutism and disturbance in speech. Our hypothesis is that there is a correlation between PFS and the occurrence of hypertrophic olivary degeneration (HOD) in lobes within the posterior fossa, known as the inferior olivary nuclei (ION). HOD is exhibited as an increase in size and intensity of the ION on an MR image. Intra-operative MRI (IoMRI) is used during surgical procedures at the Alder Hey Children's Hospital, Liver- pool, England, in the treatment of Posterior Fossa tumours and allows visualisation of the brain during surgery. The final MR scan on the IoMRI allows early assessment of the ION immediately after the surgical procedure. The longitudinal MRI data of 28 patients was analysed in a collaborative study with Alder Hey Children's Hospital, in order to identify the most relevant imaging features that relate to the development of PFS, specifically related to HOD. A semi-automated segmentation process was carried out to delineate the ION on each MRI. Feature selection techniques were used to identify the most relevant features amongst the MRI data, demographics and clinical data provided by the hospital. A support vector machine (SVM) was used to analyse the discriminative ability of the selected features. The results indicate the presence of HOD as the most efficient feature that correlates with the development of PFS, followed by the change in intensity and size of the ION and whether HOD occurred bilaterally or unilaterally.

  18. Gastrointestinal symptoms related to the irritable bowel syndrome - a longitudinal population-based register study

    DEFF Research Database (Denmark)

    Heinsvig Poulsen, Chalotte; Falgaard Eplov, Lene; Hjorthøj, Carsten

    2015-01-01

    Objective Functional gastrointestinal (GI) symptoms can develop into persistent states often categorised as the irritable bowel syndrome (IBS). In the severe end of the GI symptom continuum, other coexisting symptoms are common. We aimed to investigate the GI symptom continuum in relation...... symptom groups and mortality (p = 0.47). IBS and GI symptoms with abdominal pain were significantly associated with development of GI diseases. Only GI symptoms with abdominal pain were associated with development of severe GI diseases (HR: 1.38; 95% CI: [1.06–1.79]). There were no statistically......, but continue to report frequent abdominal pain. Coexisting symptoms did not influence mortality and development of GI diseases....

  19. Longitudinal Analysis of DNA Methylation in CD34+ Hematopoietic Progenitors in Myelodysplastic Syndrome

    DEFF Research Database (Denmark)

    Wong, Yan Fung; Micklem, Chris N; Taguchi, Masataka

    2014-01-01

    Myelodysplastic syndrome (MDS) is a disorder of hematopoietic stem cells (HSCs) that is often treated with DNA methyltransferase 1 (DNMT1) inhibitors (5-azacytidine [AZA], 5-aza-2'-deoxycytidine), suggesting a role for DNA methylation in disease progression. How DNMT inhibition retards disease...... regulators not expressed within the hematopoietic compartment and was distinct from that observed between healthy hematopoietic cell types. After AZA treatment, we observed only limited DNA demethylation at sites that varied between patients. This suggests that a subset of the stem cell population...... is resistant to AZA and provides a basis for disease relapse. Using gene expression data from patient samples and an in vitro AZA treatment study, we identified differentially methylated genes that can be activated following treatment and that remain silent in the CD34+ stem cell compartment of high-risk MDS...

  20. Tourette syndrome and chronic tic disorder are associated with lower socio-economic status: findings from the Avon Longitudinal Study of Parents and Children cohort

    Science.gov (United States)

    Miller, Laura L; Scharf, Jeremiah M; Mathews, Carol A; Ben-Shlomo, Yoav

    2014-01-01

    Aim Only a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample. Method Data are from 7152 children born during 1991 and 1992 in the county of Avon, UK, from the Avon Longitudinal Study of Parents and Children, who were followed up to age 13. After exclusions for intellectual disability* and autism, 6768 participants (3351 males [49.5%]) and 3417 females [50.5%]) remained. Parental SES was assessed using multiple measures during pregnancy and at 33 months of age. Presence of Tourette syndrome or chronic tics was determined from repeated maternal questionnaires up to when the child was 13 years of age. Results Multiple SES measures were associated with an approximately twofold increased risk of Tourette syndrome and chronic tics. A postnatal composite factor score (lowest vs highest tertile odds ratio 2.09, 95% confidence interval 1.38–3.47) provided the best fit to the data. Interpretations As is seen in several childhood conditions, such as cerebral palsy and autism, lower SES is a risk factor for Tourette syndrome/chronic tics. Potential explanations include differential exposure to environmental risk factors or parental psychopathology as a measure of an increased genetic risk leading to decreased parental SES. PMID:24138188

  1. Effects of exercise training and detraining in patients with fibromyalgia syndrome: a 3-yr longitudinal study.

    Science.gov (United States)

    Sañudo, Borja; Carrasco, Luis; de Hoyo, Moisés; McVeigh, Joseph G

    2012-07-01

    This study aimed to evaluate the immediate effects of a 6-mo combined exercise program on quality-of-life, physical function, depression, and aerobic capacity in women with fibromyalgia syndrome and to determine the impact of repeated delivery of the intervention. Forty-one women with fibromyalgia were randomly assigned to a training group (EG; n = 21) and a control group (CG; n = 20). Quality-of-life and physical function were assessed using the 36-item Short-Form Health Survey (SF-36) and the Fibromyalgia Impact Questionnaire, and depression was measured using the Beck Depression Inventory. Physical fitness was measured using the 6-min Walk Test. Outcomes were assessed at baseline and after each 6-mo intervention, which was delivered over 30 mos (6 mos of training and 6 mos of detraining). After a 6-mo combined exercise program, there was a significant improvement in the Fibromyalgia Impact Questionnaire (P Fibromyalgia Impact Questionnaire, SF-36, Beck Depression Inventory and the 6-min Walk Test, but there were no between-group interaction effects. For the EG, there were significant within-group changes in the Fibromyalgia Impact Questionnaire, SF-36, and Beck Depression Inventory at the final time point; however, there were no within-group changes for the control group. Improvement achieved for the training group were maintained during the detraining period. A long-term exercise program can produce immediate improvements in key health domains in women with fibromyalgia. The benefits achieved with regular training can be maintained for 30 mos. The lack of difference between groups over time may be caused by attrition and consequent lack of power at the final time point.

  2. Longitudinal investigation of natural killer cells and cytokines in chronic fatigue syndrome/myalgic encephalomyelitis

    Directory of Open Access Journals (Sweden)

    Brenu Ekua W

    2012-05-01

    Full Text Available Abstract Background Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME is an etiologically unexplained disorder characterised by irregularities in various aspects of the immunological function. Presently, it is unknown whether these immunological changes remain consistent over time. This study investigates Natural Killer (NK cell cytotoxic activity, NK cell subsets (CD56brightCD16- and CD56dimCD16+ and cytokines, over the course of a12 month period in patients with CFS/ME. Methods The participants in the study comprised 65 (47.2 ± 11.5 years CFS/ME participants and 21 (45.2 ±9.3 years non-fatigued controls. Flow cytometry protocols were used to assess NK subsets and NK cytotoxic activity at various time points that included baseline (T1, 6 (T2 and 12 months (T3. Cytokine secretions were measured following mitogenic stimulation of peripheral blood mononuclear cells. Results NK cytotoxic activity was significantly decreased in the CFS/ME patients at T1, T2 and T3 compared to the non-fatigued group. Additionally, in comparison to the non-fatigued controls, the CFS/ME group had significantly lower numbers of CD56brightCD16- NK cells at both T1 and T2. Interestingly, following mitogenic stimulation, cytokine secretion revealed significant increases in IL-10, IFN-γ and TNF-α at T1 in the CFS/ME group. A significant decrease was observed at T2 in the CFS/ME group for IL-10 and IL-17A while at T3, IL-2 was increased in the CFS/ME group in comparison to the non-fatigued controls. Overall cytotoxic activity was significantly decreased at T3 compared to T1 and T2. CD56brightCD16- NK cells were much lower at T2 compared to T1 and T3. IL-10 and IL-17A secretion was elevated at T2 in comparison to T1 and T3. Conclusion These results confirm decreases in immune function in CFS/ME patients, suggesting an increased susceptibility to viral and other infections. Furthermore, NK cytotoxic activity may be a suitable biomarker for diagnosing CFS

  3. U.S. military service and the prevalence of metabolic syndrome: Findings from a cross-sectional analysis of the Cooper Center Longitudinal Study, 1979-2013.

    Science.gov (United States)

    Janak, Jud C; Pérez, Adriana; Alamgir, Hasanat; Orman, Jean A; Cooper, Sharon P; Shuval, Kerem; DeFina, Laura; Barlow, Carolyn E; Gabriel, Kelley Pettee

    2017-02-01

    U.S. military service confers both health benefits and risks potentially associated with a clustering of cardiovascular risk factors called metabolic syndrome. However, the association between prior military service and metabolic syndrome has not sufficiently been examined. The purpose of the study was to compare the prevalence of metabolic syndrome by prior military service status. Among 42,370 men (887 with prior military service) examined from 1979 to 2013 at the Cooper Clinic (Dallas, TX), we used a cross-sectional study design to examine the association between military service and metabolic syndrome. First, an unadjusted log binomial regression model was performed by regressing the prevalence of metabolic syndrome on prior service. This was followed by performing Kleinbaum's modeling strategy for assessing confounding. The same methodology was used to explore the association between individual metabolic syndrome risk factors and prior service. Prior military service was not significantly associated with the prevalence of metabolic syndrome (PR=0.98, 0.89-1.07). None of the variables explored were identified as confounders. Participants with prior military service had lower prevalence of both elevated levels of triglycerides (PR=0.89, 0.80-0.99) and low levels of high-density lipoprotein-cholesterol (PR=0.78, 0.70-0.88). They had a higher prevalence of elevated resting systolic blood pressure (PR=1.23, 1.12-1.35). However, none of these associations were significant after adjusting for identified confounders: age; cardiorespiratory fitness; and exam year. Study findings indicate that military service was not independently associated with the prevalence of metabolic syndrome or its components. Future research is warranted longitudinally assessing the impact of military service on long-term outcomes. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Group-based developmental BMI trajectories, polycystic ovary syndrome, and gestational diabetes: a community-based longitudinal study.

    Science.gov (United States)

    Kakoly, Nadira Sultana; Earnest, Arul; Moran, Lisa J; Teede, Helena J; Joham, Anju E

    2017-11-06

    Obesity is common in young women, increasing insulin resistance (IR) and worsening pregnancy complications, including gestational diabetes (GDM). Women with polycystic ovary syndrome (PCOS) are commonly obese, which aggravates the severity of PCOS clinical expression. Relationships between these common insulin-resistant conditions, however, remain unclear. We conducted a secondary analysis of the Australian Longitudinal Study on Women's Health (ALSWH) database, including data from 8009 women aged 18-36 years across six surveys. We used latent-curve growth modelling to identify distinct body mass index (BMI) trajectories and multinomial logistic regression to explore sociodemographic and health variables characterizing BMI group membership. Logistic regression was used to assess independent risk of GDM. A total of 662 women (8.29%, 95% CI 7.68-8.89) reported PCOS. Three distinct BMI trajectories emerged, namely low stable (LSG) (63.8%), defined as an average trajectory remaining at ~25 kg/m 2 ; moderately rising (MRG) (28.8%), a curvilinear trajectory commencing in a healthy BMI and terminating in the overweight range; and high-rising (HRG) (7.4%), a curvilinear trajectory starting and terminating in the obese range. A high BMI in early reproductive life predicted membership in higher trajectories. The HRG BMI trajectory was independently associated with GDM (OR 2.50, 95% CI 1.80-3.48) and was a stronger correlate than PCOS (OR 1.89, 95% CI 1.41-2.54), maternal age, socioeconomic status, or parity. Our results suggest heterogeneity in BMI change among Australian women of reproductive age, with and without PCOS. Reducing early adult life weight represents an ideal opportunity to intervene at an early stage of reproductive life and decreases the risk of long-term metabolic complications such as GDM.

  5. Associations of the plasma lipidome with mortality in the acute respiratory distress syndrome: a longitudinal cohort study.

    Science.gov (United States)

    Maile, Michael D; Standiford, Theodore J; Engoren, Milo C; Stringer, Kathleen A; Jewell, Elizabeth S; Rajendiran, Thekkelnaycke M; Soni, Tanu; Burant, Charles F

    2018-04-10

    It is unknown if the plasma lipidome is a useful tool for improving our understanding of the acute respiratory distress syndrome (ARDS). Therefore, we measured the plasma lipidome of individuals with ARDS at two time-points to determine if changes in the plasma lipidome distinguished survivors from non-survivors. We hypothesized that both the absolute concentration and change in concentration over time of plasma lipids are associated with 28-day mortality in this population. Samples for this longitudinal observational cohort study were collected at multiple tertiary-care academic medical centers as part of a previous multicenter clinical trial. A mass spectrometry shot-gun lipidomic assay was used to quantify the lipidome in plasma samples from 30 individuals. Samples from two different days were analyzed for each subject. After removing lipids with a coefficient of variation > 30%, differences between cohorts were identified using repeated measures analysis of variance. The false discovery rate was used to adjust for multiple comparisons. Relationships between significant compounds were explored using hierarchical clustering of the Pearson correlation coefficients and the magnitude of these relationships was described using receiver operating characteristic curves. The mass spectrometry assay reliably measured 359 lipids. After adjusting for multiple comparisons, 90 compounds differed between survivors and non-survivors. Survivors had higher levels for each of these lipids except for five membrane lipids. Glycerolipids, particularly those containing polyunsaturated fatty acid side-chains, represented many of the lipids with higher concentrations in survivors. The change in lipid concentration over time did not differ between survivors and non-survivors. The concentration of multiple plasma lipids is associated with mortality in this group of critically ill patients with ARDS. Absolute lipid levels provided more information than the change in concentration over

  6. Recovery from Dysphagia Symptoms after Oral Endotracheal Intubation in Acute Respiratory Distress Syndrome Survivors. A 5-Year Longitudinal Study.

    Science.gov (United States)

    Brodsky, Martin B; Huang, Minxuan; Shanholtz, Carl; Mendez-Tellez, Pedro A; Palmer, Jeffrey B; Colantuoni, Elizabeth; Needham, Dale M

    2017-03-01

    Nearly 60% of patients who are intubated in intensive care units (ICUs) experience dysphagia after extubation, and approximately 50% of them aspirate. Little is known about dysphagia recovery time after patients are discharged from the hospital. To determine factors associated with recovery from dysphagia symptoms after hospital discharge for acute respiratory distress syndrome (ARDS) survivors who received oral intubation with mechanical ventilation. This is a prospective, 5-year longitudinal cohort study involving 13 ICUs at four teaching hospitals in Baltimore, Maryland. The Sydney Swallowing Questionnaire (SSQ), a 17-item visual analog scale (range, 0-1,700), was used to quantify patient-perceived dysphagia symptoms at hospital discharge, and at 3, 6, 12, 24, 36, 48, and 60 months after ARDS. An SSQ score greater than or equal to 200 was used to indicate clinically important dysphagia symptoms at the time of hospital discharge. Recovery was defined as an SSQ score less than 200, with a decrease from hospital discharge greater than or equal to 119, the reliable change index for SSQ score. Fine and Gray proportional subdistribution hazards regression analysis was used to evaluate patient and ICU variables associated with time to recovery accounting for the competing risk of death. Thirty-seven (32%) of 115 patients had an SSQ score greater than or equal to 200 at hospital discharge; 3 died before recovery. All 34 remaining survivors recovered from dysphagia symptoms by 5-year follow-up, 7 (23%) after 6 months. ICU length of stay was independently associated with time to recovery, with a hazard ratio (95% confidence interval) of 0.96 (0.93-1.00) per day. One-third of orally intubated ARDS survivors have dysphagia symptoms that persist beyond hospital discharge. Patients with a longer ICU length of stay have slower recovery from dysphagia symptoms and should be carefully considered for swallowing assessment to help prevent complications related to dysphagia.

  7. Longitudinal changes in visceral and subcutaneous adipose tissue and metabolic syndrome: Results from the Multicultural Community Health Assessment Trial (M-CHAT).

    Science.gov (United States)

    Tu, Andrew W; Humphries, Karin H; Lear, Scott A

    2017-12-01

    Few studies have examined whether longitudinal changes in visceral adipose tissue (VAT) and subcutaneous adipose tissue (SAT), independent of each other, are associated with the risk of developing metabolic syndrome (MetS). The objective of this study was to examine the longitudinal effects of VAT and SAT on MetS and metabolic risk factors in a multi-ethnic sample of Canadians followed for 5-years. In total, 598 adults of the Multicultural Community Health Assessment Trial (M-CHAT) were included in this study. Assessments of body composition using computed tomography (CT) and metabolic risk factors were conducted at baseline, 3-, and 5-years. Mixed-effects logistic regression was used to model the longitudinal effects of VAT and SAT on MetS and metabolic risk factors. There were significant between-person (cross-sectional) effects such that for every 10cm 2 higher VAT, the odds of MetS, high-risk fasting glucose levels and high-risk HDL-C levels significantly increased by 16% (95% CI: 9-24%), 11% (3-20%), and 7% (0-14%) respectively. Significant within-person (longitudinal) effects were also found such that for every 10cm 2 increase in VAT the odds of MetS and high-risk triglyceride levels significantly increased by 23% (9-39%) and 30% (14-48%), respectively. Cross-sectional or longitudinal changes in SAT were not associated with MetS or metabolic risk factors. This study found a direct relationship between longitudinal change in VAT and MetS risk independent of changes in SAT. Clinical practice should focus on the reduction of VAT to improve cardiovascular health outcomes. Copyright © 2017 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  8. Constitutional growth delay pattern of growth in velo-cardio-facial syndrome: longitudinal follow up and final height of two cases.

    Science.gov (United States)

    Turan, Serap; Ozdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo-cardio-facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS -3.4 SDS), but showed spontaneous catch-up and ended up with a final height of -2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty.

  9. Associations of Child and Adolescent Mastery Motivation and Self-Regulation With Adult Outcomes: A Longitudinal Study of Individuals With Down Syndrome.

    Science.gov (United States)

    Gilmore, Linda; Cuskelly, Monica

    2017-05-01

    This 20-year prospective longitudinal study focuses on the contribution of mastery motivation and self-regulation to adult outcomes for individuals with Down syndrome. In earlier phases of the research, 25 participants completed measures of cognitive ability, mastery motivation and self-regulation in childhood (4 to 6 years) and adolescence (11 to 15 years). In the adult phase reported here, self-determination and adaptive behavior were assessed in 21 of the original participants at age 23 to 26 years. Mastery motivation and self-regulation made unique contributions to adult outcomes, over and above the effects of cognitive ability. The findings provide powerful evidence about the important role of child and adolescent mastery motivation and self-regulation for the adult lives of individuals with Down syndrome.

  10. A longitudinal study of sick building syndrome among pupils in relation to microbial components in dust in schools in China

    International Nuclear Information System (INIS)

    Zhang, Xin; Zhao, Zhuohui; Nordquist, Tobias; Larsson, Lennart; Sebastian, Aleksandra; Norback, Dan

    2011-01-01

    There are few longitudinal studies on sick building syndrome (SBS), which include ocular, nasal, throat, and dermal symptoms, headache, and fatigue. We studied the associations between selected microbial components, fungal DNA, furry pet allergens, and incidence and remission of SBS symptoms in schools in Taiyuan, China. The study was based on a two-year prospective analysis in pupils (N = 1143) in a random sample of schools in China. Settled dust in the classrooms was collected by vacuum cleaning and analyzed for lipopolysaccharide (LPS), muramic acid (MuA), and ergosterol (Erg). Airborne dust was collected in Petri dishes and analyzed for cat and dog allergens and fungal DNA. The relationship between the concentration of allergens and microbial compounds and new onset of SBS was analyzed by multi-level logistic regression. The prevalence of mucosal and general symptoms was 33% and 28%, respectively, at baseline, and increased during follow-up. At baseline, 27% reported at least one symptom that improved when away from school (school-related symptoms). New onset of mucosal symptoms was negatively associated with concentration of MuA, total LPS, and shorter lengths of 3-hydroxy fatty acids from LPS, C14, C16, and C18. Onset of general symptoms was negatively associated with C18 LPS. Onset of school-related symptoms was negatively associated with C16 LPS, but positively associated with total fungal DNA. In general, bacterial compounds (LPS and MuA) seem to protect against the development of mucosal and general symptoms, but fungal exposure measured as fungal DNA could increase the incidence of school-related symptoms. - Highlights: → SBS symptoms increased during the two-year follow-up period in school children in Taiyuan, China → We studied the associations between selected microbial components and incidence and remission of SBS symptoms. → Bacterial compounds (LPS and MuA) seem to protect against the development of mucosal and general symptoms. → Fungal

  11. Systemic inflammatory mediators in post-traumatic complex regional pain syndrome (CRPS I) - longitudinal investigations and differences to control groups.

    Science.gov (United States)

    Schinkel, Christian; Scherens, A; Köller, M; Roellecke, G; Muhr, G; Maier, C

    2009-03-17

    The Complex Regional Pain Syndrome I (CRPS I) is a disease that might affect an extremity after trauma or operation. The pathogenesis remains yet unclear. It has clinical signs of severe local inflammation as a result of an exaggerated inflammatory response but neurogenic dysregulation also contributes to it. Some studies investigated the role inflammatory mediators and cytokines; however, few longitudinal studies exist and control groups except healthy controls were not investigated yet. To get further insights into the role of systemic inflammatory mediators in CRPS I, we investigated a variety of pro-, anti-, or neuro-inflammatory mediators such as C-Reactive Protein (CRP), White Blood Cell Count (WBC), Interleukins 4, 6, 8, 10, 11, 12 (p70), Interferon gamma, Tumor-Necrosis-Factor alpha (TNF-a) and its soluble Receptors I/II, soluble Selectins (E,L,P), Substance-P (SP), and Calcitonin Gene-Related Peptide (CGRP) at different time points in venous blood from patients with acute (AC) and chronic (CC) CRPS I, patients with forearm fractures (FR), with neuralgia (NE), and from healthy volunteers (C). No significant changes for serum parameters investigated in CRPS compared to control groups were found except for CC/C (CGRP p = 0.007), FR/C (CGRP p = 0.048) and AC/CC (IL-12 p = 0.02; TNFRI/II p = 0.01; SP p = 0.049). High interindividual variations were observed. No intra- or interindividual correlation of parameters with clinical course (e.g. chronification) or outcome was detectable. Although clinically appearing as inflammation in acute stages, local rather than systemic inflammatory responses seem to be relevant in CRPS. Variable results from different studies might be explained by unpredictable intermittent release of mediators from local inflammatory processes into the blood combined with high interindividual variabilities. A clinically relevant difference to various control groups was not notable in this pilot study. Determination of systemic inflammatory

  12. Systemic inflammatory mediators in post-traumatic Complex Regional Pain Syndrome (CRPS I - longitudinal investigations and differences to control groups

    Directory of Open Access Journals (Sweden)

    Schinkel Ch

    2009-03-01

    Full Text Available Abstract Objectives The Complex Regional Pain Syndrome I (CRPS I is a disease that might affect an extremity after trauma or operation. The pathogenesis remains yet unclear. It has clinical signs of severe local inflammation as a result of an exaggerated inflammatory response but neurogenic dysregulation also contributes to it. Some studies investigated the role inflammatory mediators and cytokines; however, few longitudinal studies exist and control groups except healthy controls were not investigated yet. Methods To get further insights into the role of systemic inflammatory mediators in CRPS I, we investigated a variety of pro-, anti-, or neuro-inflammatory mediators such as C-Reactive Protein (CRP, White Blood Cell Count (WBC, Interleukins 4, 6, 8, 10, 11, 12 (p70, Interferon gamma, Tumor-Necrosis-Factor alpha (TNF-α and its soluble Receptors I/II, soluble Selectins (E, L, P, Substance-P (SP, and Calcitonin Gene-Related Peptide (CGRP at different time points in venous blood from patients with acute (AC and chronic (CC CRPS I, patients with forearm fractures (FR, with neuralgia (NE, and from healthy volunteers (C. Results No significant changes for serum parameters investigated in CRPS compared to control groups were found except for CC/C (CGRP p = 0.007, FR/C (CGRP p = 0.048 and AC/CC (IL-12 p = 0.02; TNFRI/II p = 0.01; SP p = 0.049. High interindividual variations were observed. No intra-or interindividual correlation of parameters with clinical course (e.g. chronification or outcome was detectable. Conclusion Although clinically appearing as inflammation in acute stages, local rather than systemic inflammatory responses seem to be relevant in CRPS. Variable results from different studies might be explained by unpredictable intermittent release of mediators from local inflammatory processes into the blood combined with high interindividual variabilities. A clinically relevant difference to various control groups was not notable in this

  13. Tourette syndrome in a longitudinal perspective. Clinical course of tics and comorbidities, coexisting psychopathologies, phenotypes and predictors.

    Science.gov (United States)

    Groth, Camilla

    2018-04-01

    Tourette syndrome (TS) is a childhood onset neurodevelopmental disorder characterised by motor and vocal tics and frequent associated comorbidities. The developmental trajectory of tic shows tic-onset in the age of 4-6, peak in the age of 10-12 and decline during adolescence, although only few and small longitudinal studies form the basis of this evidence. Recent studies suggest that comorbid obsessive-compulsive disorder (OCD), attention deficit-hyperactivity disorder (ADHD) and coexisting psychopathologies tend to persist and become more dominant in adolescence. This large prospective follow-up study want to examine the clinical course of TS: tic and comorbidities during adolescence, the prevalence of coexisting psychopathologies, the tic-related impairment, development in phenotype expression and find predictors for the expected course of TS. 
Method: This study is examining a large clinical cohort recruited at the Danish National Tourette Clinic during the period 2005-2007 and 2011-2013. At baseline, 314 participants aged 5-19 years were included and at follow-up 6 years later 227 participated, aged 11-26. All participants were uniformly clinically examined at basis and follow-up with a clinical interview and validated measurements to assess comorbidities. The Yale Global Tic Severity Scale was used to asses tic severity and tic-related impairment. At follow-up a cross-sectional diagnostic evaluation was made with the Development and Well-Being Assessment to assess coexisting psychopathologies.
 Results: A significant decline in tic and the most frequent comorbidities OCD and ADHD was found although some variation existed and some subclinical and partial remissions persisted. Tic-related impairment was not reflected in the tic-decline as expected but influenced by several parameters. The phenotype expression was found to be dynamic but overall changed toward TS without comorbidities. Several predictors were found to predict the clinical course of TS in

  14. A longitudinal study of sick building syndrome among pupils in relation to microbial components in dust in schools in China

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Xin, E-mail: xinzhang0051@sxu.edu.cn [Research Center for Environmental Science and Engineering, Shanxi University, 030006 Taiyuan (China); Department of Medical Sciences, Uppsala University and University Hospital, 75185 Uppsala (Sweden); Zhao, Zhuohui [Department of Environmental Health, Key Laboratory of Public Health Safety, Ministry of Education, Fudan University, 030002 Shanghai (China); Nordquist, Tobias [Department of Medical Sciences, Uppsala University and University Hospital, 75185 Uppsala (Sweden); Larsson, Lennart; Sebastian, Aleksandra [Department of Laboratory Medicine, Division of Medial Microbiology, University of Lund, 22100 Lund (Sweden); Norback, Dan [Department of Medical Sciences, Uppsala University and University Hospital, 75185 Uppsala (Sweden)

    2011-11-15

    There are few longitudinal studies on sick building syndrome (SBS), which include ocular, nasal, throat, and dermal symptoms, headache, and fatigue. We studied the associations between selected microbial components, fungal DNA, furry pet allergens, and incidence and remission of SBS symptoms in schools in Taiyuan, China. The study was based on a two-year prospective analysis in pupils (N = 1143) in a random sample of schools in China. Settled dust in the classrooms was collected by vacuum cleaning and analyzed for lipopolysaccharide (LPS), muramic acid (MuA), and ergosterol (Erg). Airborne dust was collected in Petri dishes and analyzed for cat and dog allergens and fungal DNA. The relationship between the concentration of allergens and microbial compounds and new onset of SBS was analyzed by multi-level logistic regression. The prevalence of mucosal and general symptoms was 33% and 28%, respectively, at baseline, and increased during follow-up. At baseline, 27% reported at least one symptom that improved when away from school (school-related symptoms). New onset of mucosal symptoms was negatively associated with concentration of MuA, total LPS, and shorter lengths of 3-hydroxy fatty acids from LPS, C14, C16, and C18. Onset of general symptoms was negatively associated with C18 LPS. Onset of school-related symptoms was negatively associated with C16 LPS, but positively associated with total fungal DNA. In general, bacterial compounds (LPS and MuA) seem to protect against the development of mucosal and general symptoms, but fungal exposure measured as fungal DNA could increase the incidence of school-related symptoms. - Highlights: {yields} SBS symptoms increased during the two-year follow-up period in school children in Taiyuan, China {yields} We studied the associations between selected microbial components and incidence and remission of SBS symptoms. {yields} Bacterial compounds (LPS and MuA) seem to protect against the development of mucosal and general symptoms

  15. Tourette syndrome and chronic tic disorder are associated with lower socio-economic status: findings from the Avon Longitudinal Study of Parents and Children cohort.

    Science.gov (United States)

    Miller, Laura L; Scharf, Jeremiah M; Mathews, Carol A; Ben-Shlomo, Yoav

    2014-02-01

    Only a few studies have examined the relationship between Tourette syndrome or chronic tic disorder and socio-economic status (SES). Existing studies are primarily cross-sectional, arise from specialty clinics, and use single measures of SES. In this study we examine this relationship in a longitudinal, population-based sample. Data are from 7152 children born during 1991 and 1992 in the county of Avon, UK, from the Avon Longitudinal Study of Parents and Children, who were followed up to age 13. After exclusions for intellectual disability* and autism, 6768 participants (3351 males [49.5%]) and 3417 females [50.5%]) remained. Parental SES was assessed using multiple measures during pregnancy and at 33 months of age. Presence of Tourette syndrome or chronic tics was determined from repeated maternal questionnaires up to when the child was 13 years of age. Multiple SES measures were associated with an approximately twofold increased risk of Tourette syndrome and chronic tics. A postnatal composite factor score (lowest vs highest tertile odds ratio 2.09, 95% confidence interval 1.38-3.47) provided the best fit to the data. As is seen in several childhood conditions, such as cerebral palsy and autism, lower SES is a risk factor for Tourette syndrome/chronic tics. Potential explanations include differential exposure to environmental risk factors or parental psychopathology as a measure of an increased genetic risk leading to decreased parental SES. © 2013 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.

  16. Longitudinal Follow-up of Autism Spectrum Features and Sensory Behaviors in Angelman Syndrome by Deletion Class

    Science.gov (United States)

    Peters, Sarika U.; Horowitz, Lucia; Barbieri-Welge, Rene; Taylor, Julie Lounds; Hundley, Rachel J.

    2012-01-01

    Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a "syndromic" form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (approximately 6 Mb) Class…

  17. Subthreshold Conditions as Precursors for Full Syndrome Disorders: A 15-Year Longitudinal Study of Multiple Diagnostic Classes

    Science.gov (United States)

    Shankman, Stewart A.; Lewinsohn, Peter M.; Klein, Daniel N.; Small, Jason W.; Seeley, John R.; Altman, Sarah E.

    2009-01-01

    Background: There has been increasing interest in the distinction between subthreshold and full syndrome disorders and specifically whether subthreshold conditions escalate or predict the onset of full syndrome disorders over time. Most of these studies, however, examined whether a single subthreshold condition escalates into the full syndrome…

  18. Health and Social Outcomes in Adults with Williams Syndrome: Findings from Cross-Sectional and Longitudinal Cohorts

    Science.gov (United States)

    Elison, Sarah; Stinton, Chris; Howlin, Patricia

    2010-01-01

    Previous studies have investigated trajectories of cognitive, language and adaptive functioning in Williams syndrome (WS) but little is known about how other aspects of the Williams syndrome behavioural phenotype change across the life-span. Therefore, the present study examined age associated changes in a number of different domains of…

  19. The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study.

    Science.gov (United States)

    Weinberger, R; Weisman, O; Guri, Y; Harel, T; Weizman, A; Gothelf, D

    2018-02-01

    The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories. Forty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12-35years, were assessed at two time points (15.2±2.1months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB). 22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS. Our results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  20. Constitutional Growth Delay Pattern of Growth in Velo−Cardio−Facial Syndrome: Longitudinal follow up and final height of two cases

    Science.gov (United States)

    Özdemir, Nihal; Güran, Tülay; Akalın, Figen; Akçay, Teoman; Ayabakan, Canan; Yılmaz, Yüksel; Bereket, Abdullah

    2008-01-01

    We report two patients with velo−cardio−facial syndrome (VCFS) who were admitted to our pediatric endocrinology clinic because of short stature and followed longitudinally until attainment of final height. Both patients followed a growth pattern consistent with constitutional delay of puberty with normal and near normal final height. Case 2 also had partial growth hormone (GH) deficiency and severe short stature (height SDS −3.4 SDS), but showed spontaneous catch−up and ended up with a final height of −2 SDS. These cases suggest that short stature in children with VCFS is due to a pattern of growth similar to that observed in constitutional delay of growth and puberty. Conflict of interest:None declared. PMID:21318064

  1. Longitudinal Magnetic Resonance Imaging (MRI) Analysis of the Developmental Changes of Tourette Syndrome Reveal Reduced Diffusion in the Cortico-Striato-Thalamo-Cortical Pathways

    DEFF Research Database (Denmark)

    Debes, Nanette; Jeppesen, Signe; Raghava, Jayachandra Mitta

    2015-01-01

    There is evidence that cortico-striato-thalamo-cortical pathways are involved in Tourette syndrome. We performed a longitudinal imaging study in 22 patients and 21 healthy controls in order to examine the development of tics and its correlation with magnetic resonance imaging (MRI) findings....... Patients were divided in a group with persisting and a group with remission of tics. We found a decrease in volume of left putamen in controls, but not in patients. We found changes in mean diffusivity between patients and controls in right caudate nucleus, thalamus, and frontal lobe. In contrast...... to controls, parallel and perpendicular diffusivity decreased in patients and were most pronounced in the patients with persisting tics compared to those with remission. The findings suggest that the development of the brain in patients with remission resembles the normal development more than in patients...

  2. Differential rate in decline in ovarian reserve markers in women with polycystic ovary syndrome compared with control subjects: results of a longitudinal study.

    Science.gov (United States)

    Ahmad, Asima K; Kao, Chia-Ning; Quinn, Molly; Lenhart, Nikolaus; Rosen, Mitchell; Cedars, Marcelle I; Huddleston, Heather

    2018-03-01

    To estimate rates of ovarian aging in polycystic ovary syndrome (PCOS) subjects versus a community control population. Longitudinal. Tertiary academic center. PCOS subjects diagnosed according to the 2004 Rotterdam criteria were systematically enrolled in a PCOS cohort study. The comparison control subjects were from the Ovarian Aging study, a prospective longitudinal study of ovarian aging in healthy women with regular menstrual cycles. Clinical data collection over two study visits. Antral follicle count (AFC), ovarian volume (OV), and antimüllerian hormone level (AMH). PCOS subjects were found to have higher baseline values for all ovarian reserve markers compared with control subjects. Univariate models indicated that, compared with control subjects, PCOS patients experienced significantly faster rates of decline for both AFC and AMH. Change in OV did not differ significantly. To account for potential confounder effects, multiple analysis of covariance models were evaluated for the best fit, considering age, body mass index, and baseline ovarian reserve markers. Adjusted models demonstrated that PCOS patients do not experience a significant difference in AFC decline compared with control subjects, but they do experience a faster rate of decline in AMH (POvarian aging in PCOS is characterized by a more rapid decline in AMH and a slower decline in OV compared with control subjects. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  3. Women with polycystic ovary syndrome demonstrate worsening markers of cardiovascular risk over the short-term despite declining hyperandrogenaemia: Results of a longitudinal study with community controls.

    Science.gov (United States)

    Huddleston, Heather G; Quinn, Molly M; Kao, Chia-Ning; Lenhart, Nikolaus; Rosen, Mitchell P; Cedars, Marcelle I

    2017-12-01

    To compare age-associated changes in cardiovascular risk markers in lean and obese reproductive-aged women with polycystic ovary syndrome (PCOS) with community controls. Longitudinal study at an academic medical centre PATIENTS: Patients diagnosed with PCOS by 2004 Rotterdam criteria in a multidisciplinary clinic were systematically enrolled from 2006-2014 in a PCOS cohort study and subsequently agreed to participate in a longitudinal study. The comparison controls were from the prospective, longitudinal Ovarian Aging (OVA) study, which consists of healthy women with regular menstrual cycles recruited from 2006 to 2011. Cardiovascular risk markers and hormone parameters at baseline and follow-up. Obese and lean PCOS (n = 38) and control women (n = 296) completed two study visits. The follow-up time (3.5 ± 1.5 vs 4.0 ± 0.8 years, P = .06) and magnitude of BMI gain (+0.1 kg/m 2 /y [-0.11, 0.36] vs +0.26 [-0.18, 0.87] P = .19) did not differ between obese and lean PCOS and controls. In PCOS subjects, total testosterone decreased in both obese and lean, but the decrease was greater in obese subjects (-0.09 nmol/L per year; 95% CI: -0.16, -0.02 vs -0.04 nmol/L per year; 95%CI: -0.11, 0.03). Compared to their respective controls, obese and lean PCOS saw worsening triglyceride (TG) levels (P women with PCOS demonstrated declines in biochemical hyperandrogenaemia over time. Despite this, PCOS subjects experienced steeper increases in cardiovascular risk factors associated with insulin resistance, including triglycerides and HOMA-IR. © 2017 John Wiley & Sons Ltd.

  4. Longitudinal associations of burnout with heart rate variability in patients following acute coronary syndrome: A one-year follow-up study.

    Science.gov (United States)

    Zhang, Min; Liu, Ling; Shi, Yunke; Yang, Yanfei; Yu, Xiaoju; Angerer, Peter; Kristensen, Tage S; Li, Jian

    2018-05-25

    To investigate longitudinal associations of burnout with heart rate variability (HRV) in patients after their first acute coronary syndrome (ACS). Two hundred eight patients participated in this one-year follow-up study. On the day before discharge, their personal burnout level was assessed by the Copenhagen Burnout Inventory. HRV signals were collected at four time points: the day before discharge, one month, six month and one year after discharge. HRV was measured by 24-h ambulatory electrocardiography and analyzed in time and frequency domains. Generalized estimating equations were applied to analyze the associations of burnout at baseline with longitudinal tracking of HRV during follow-up. After adjusting for relevant confounding factors, high burnout at baseline was significantly associated with low SDNN, a time domain measure of HRV [regression coefficient = -0.087, 95% CI = (-0.136, -0.038) by an increase per SD in burnout score, p = 0.001]. Also, baseline burnout was inversely associated with five frequency domain measures, i.e., HF [coefficient = -0.179, 95% CI = (-0.352, -0.006), p = 0.043], LF [coefficient = -0.171, 95% CI = (-0.319, -0.023), p = 0.024], VLF [coefficient = -0.367, 95% CI = (-0.483, -0.250), p burnout is longitudinally associated with decreased HRV during one-year period among patients after first ACS. Copyright © 2018 Elsevier Inc. All rights reserved.

  5. Longitudinal association of obesity, metabolic syndrome and diabetes with risk of elevated aminotransferase levels in a cohort of Mexican health workers.

    Science.gov (United States)

    Flores, Yvonne N; Auslander, Allyn; Crespi, Catherine M; Rodriguez, Michael; Zhang, Zuo-Feng; Durazo, Francisco; Salmerón, Jorge

    2016-05-01

    In Mexico, chronic liver disease have been increasingly found along with the rapidly growing prevalence of obesity, diabetes and metabolic syndrome (MS). We aimed to investigate the longitudinal association between these three factors and risk of elevated alanine aminotransferase (ALT) levels (>40 U/L), a marker for liver damage, in a cohort of Mexican adults. Data were obtained from two separate waves of the Mexican Health Worker Cohort Study: Wave 1 (2004-2006) and Wave 2 (2011-2013). Unconditional logistic regression models were employed to determine the cross-sectional and longitudinal association between these risk factors and elevated ALT levels. The prevalence of elevated ALT was significantly higher among men, individuals aged under 60 years, those who were overweight or obese, diabetic, with MS or heavy/binge drinkers. The longitudinal results indicated that weight gain between waves that resulted in a change in body mass index, along with remaining overweight or obese, were significantly associated with an increased risk of elevated ALT levels. A significantly increased risk of developing elevated ALT was also observed among those who acquired diabetes or MS from Wave 1 to Wave 2. Weight gain and acquiring diabetes or MS are associated with a significant risk of having elevated ALT. These results, within the context of the rapid increase in global obesity rates, call urgently for programs to help to prevent chronic liver disease. © 2016 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

  6. Influences of the Big Five personality traits on the treatment response and longitudinal course of depression in patients with acute coronary syndrome: A randomised controlled trial.

    Science.gov (United States)

    Kim, Seon-Young; Stewart, Robert; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min

    2016-10-01

    Influences of the Big Five personality traits on the treatment response and longitudinal course of depression in patients with acute coronary syndrome: A randomised controlled trial. This naturalistic observational study initially recruited 1152 ACS patients; 685 patients completed personality assessments at baseline, of whom 630 were followed-up one year later. Of the 294 patients with depression, 207 participated in a 24-week double blind trial of escitalopram or placebo. The remaining 87 patients who received medical treatment only and the 391 who had not depression were also followed in a one year naturalistic observational study. The Big five personality traits were assessed using the Big Five Inventory. The influences of personality on the Hamilton Depression Rating Scale score changes were analysed using a mixed-model repeated-measures analysis of covariance. A Cluster analysis identified two personality types: resilient and vulnerable. The vulnerable personality type was characterized by lower extraversion, agreeableness, and conscientiousness - but higher neuroticism - than the resilient type. This personality type was independently associated with a poorer outcome of depression in ACS patients during the 24-week treatment period and the one year longitudinal follow-up period compared to the resilient personality type, irrespective of treatment allocation. Recruitment from a single institution may limit generalisability. Personality traits were investigated 12-weeks after ACS; thus, the responses may have been influenced by the prior receipt of escitalopram. Personality types influences the treatment outcome and longitudinal course of depression in ACS patients independent of antidepressant treatment. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Prevalence of Tourette Syndrome and Chronic Tics in the Population-Based Avon Longitudinal Study of Parents and Children Cohort

    Science.gov (United States)

    Scharf, Jeremiah M.; Miller, Laura L.; Mathews, Carol A.; Ben-Shlomo, Yoav

    2012-01-01

    Objective: Recent epidemiologic studies have demonstrated that Tourette syndrome (TS) and chronic tic disorder (CT) are more common than previously recognized. However, few population-based studies have examined the prevalence of co-occurring neuropsychiatric conditions such as obsessive-compulsive disorder (OCD) and…

  8. Relationship between long-term coffee consumption and components of the metabolic syndrome : the Amsterdam Growth and Health Longitudinal Study

    NARCIS (Netherlands)

    Balk, Lisanne; Hoekstra, T.; Twisk, Jos

    2009-01-01

    Cardiovascular diseases and diabetes mellitus type II (DM II) are both major health problems. A large risk factor for these diseases is the presence of the metabolic syndrome. It is known that the risk of DM II can be decreased by coffee consumption. Therefore, we examined the association between

  9. Relationship between long-term coffee consumption and components of the metabolic syndrome: the Amsterdam Growth and Health Longitudinal Study

    NARCIS (Netherlands)

    Balk, L.J.; Hoekstra, T.; Twisk, J.W.R.

    2009-01-01

    Cardiovascular diseases and diabetes mellitus type II (DM II) are both major health problems. A large risk factor for these diseases is the presence of the metabolic syndrome. It is known that the risk of DM II can be decreased by coffee consumption. Therefore, we examined the association between

  10. Longitudinal stability of the diurnal rhythm of intraocular pressure in subjects with healthy eyes, ocular hypertension and pigment dispersion syndrome.

    Science.gov (United States)

    Huchzermeyer, Cord; Reulbach, Udo; Horn, Folkert; Lämmer, Robert; Mardin, Christian Y; Jünemann, Anselm G M

    2014-10-15

    The diurnal fluctuation of intraocular pressure may be relevant in glaucoma. The aim of this study was to find out whether the timing of diurnal fluctuation is stable over the years. Long-term IOP data from the Erlangen Glaucoma Registry, consisting of several annual extended diurnal IOP profiles for each patient, was retrospectively analyzed. Normal subjects, patients with ocular hypertension and with pigment dispersion syndrome were included because these subjects had not been treated with antiglaucomatous medications at the time of data acquisition. A cosine curve was fitted to the IOP data and the stability of individual rhythms over the years was tested using the Rayleigh test. To compare the peak times among groups, means were calculated only from subjects with a significant Rayleigh test. Of the fifty-two eligible subjects, a total of 364 extended diurnal IOP profiles measured in a sitting position had been collected over a period of 114 ± 39 months. The Rayleigh test indicated intraindividual stability of phase timing only in 19 subjects (36%). In subjects with pigment dispersions syndrome, peak IOP occurred on average two hours and seven minutes later during the day compared with subjects without this condition (p = 0.05). Fitting of cosine curves to the clinical IOP profiles was generally feasible, although careful interpretation is warranted due to lack of measurements in supine position and between midnight and 7 am. The interesting observation of a phase lag in eyes with pigment dispersion syndrome warrants confirmation and exploration in future prospective studies. The analysis of the IOP data showed no stable individual rhythm in the long term in a majority of patients.

  11. Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population.

    Directory of Open Access Journals (Sweden)

    Jinghui Yang

    Full Text Available BACKGROUND: The metabolic syndrome (MetS has been known as partly heritable, while the number of genetic studies on MetS and metabolic-related traits among Chinese elderly was limited. METHODS: A cross-sectional analysis was performed among 2 014 aged participants from September 2009 to June 2010 in Beijing, China. An additional longitudinal study was carried out among the same study population from 2001 to 2010. Biochemical profile and anthropometric parameters of all the participants were measured. The associations of 23 SNPs located within 17 candidate genes (MTHFR, PPARγ, LPL, INSIG, TCF7L2, FTO, KCNJ11, JAZF1, CDKN2A/B, ADIPOQ, WFS1, CDKAL1, IGF2BP2, KCNQ1, MTNR1B, IRS1, ACE with overweight and obesity, diabetes, metabolic phenotypes, and MetS were examined in both studies. RESULTS: In this Chinese elderly population, prevalence of overweight, central obesity, diabetes, dyslipidemia, hypertension, and MetS were 48.3%, 71.0%, 32.4%, 75.7%, 68.3% and 54.5%, respectively. In the cross-sectional analyses, no SNP was found to be associated with MetS. Genotype TT of SNP rs4402960 within the gene IGF2BP2 was associated with overweight (odds ratio (OR  = 0.479, 95% confidence interval (CI: 0.316-0.724, p = 0.001 and genotype CA of SNP rs1801131 within the gene MTHFR was associated with hypertension (OR = 1.560, 95% CI: 1.194-2.240, p = 0.001. However, these associations were not observed in the longitudinal analyses. CONCLUSIONS: The associations of SNP rs4402960 with overweight as well as the association of SNP rs1801131 with hypertension were found to be statistically significant. No SNP was identified to be associated with MetS in our study with statistical significance.

  12. The AQUA-FONTIS study: protocol of a multidisciplinary, cross-sectional and prospective longitudinal study for developing standardized diagnostics and classification of non-thyroidal illness syndrome

    Science.gov (United States)

    Dietrich, Johannes W; Stachon, Axel; Antic, Biljana; Klein, Harald H; Hering, Steffen

    2008-01-01

    Background Non-thyroidal illness syndrome (NTIS) is a characteristic functional constellation of thyrotropic feedback control that frequently occurs in critically ill patients. Although this condition is associated with significantly increased morbidity and mortality, there is still controversy on whether NTIS is caused by artefacts, is a form of beneficial adaptation, or is a disorder requiring treatment. Trials investigating substitution therapy of NTIS revealed contradictory results. The comparison of heterogeneous patient cohorts may be the cause for those inconsistencies. Objectives Primary objective of this study is the identification and differentiation of different functional states of thyrotropic feedback control in order to define relevant evaluation criteria for the prognosis of affected patients. Furthermore, we intend to assess the significance of an innovative physiological index approach (SPINA) in differential diagnosis between NTIS and latent (so-called "sub-clinical") thyrotoxicosis. Secondary objective is observation of variables that quantify distinct components of NTIS in the context of independent predictors of evolution, survival or pathophysiological condition and influencing or disturbing factors like medication. Design The approach to a quantitative follow-up of non-thyroidal illness syndrome (AQUA FONTIS study) is designed as both a cross-sectional and prospective longitudinal observation trial in critically ill patients. Patients are observed in at least two evaluation points with consecutive assessments of thyroid status, physiological and clinical data in additional weekly observations up to discharge. A second part of the study investigates the neuropsychological impact of NTIS and medium-term outcomes. The study design incorporates a two-module structure that covers a reduced protocol in form of an observation trial before patients give informed consent. Additional investigations are performed if and after patients agree in

  13. The AQUA-FONTIS study: protocol of a multidisciplinary, cross-sectional and prospective longitudinal study for developing standardized diagnostics and classification of non-thyroidal illness syndrome

    Directory of Open Access Journals (Sweden)

    Klein Harald H

    2008-10-01

    Full Text Available Abstract Background Non-thyroidal illness syndrome (NTIS is a characteristic functional constellation of thyrotropic feedback control that frequently occurs in critically ill patients. Although this condition is associated with significantly increased morbidity and mortality, there is still controversy on whether NTIS is caused by artefacts, is a form of beneficial adaptation, or is a disorder requiring treatment. Trials investigating substitution therapy of NTIS revealed contradictory results. The comparison of heterogeneous patient cohorts may be the cause for those inconsistencies. Objectives Primary objective of this study is the identification and differentiation of different functional states of thyrotropic feedback control in order to define relevant evaluation criteria for the prognosis of affected patients. Furthermore, we intend to assess the significance of an innovative physiological index approach (SPINA in differential diagnosis between NTIS and latent (so-called "sub-clinical" thyrotoxicosis. Secondary objective is observation of variables that quantify distinct components of NTIS in the context of independent predictors of evolution, survival or pathophysiological condition and influencing or disturbing factors like medication. Design The approach to a quantitative follow-up of non-thyroidal illness syndrome (AQUA FONTIS study is designed as both a cross-sectional and prospective longitudinal observation trial in critically ill patients. Patients are observed in at least two evaluation points with consecutive assessments of thyroid status, physiological and clinical data in additional weekly observations up to discharge. A second part of the study investigates the neuropsychological impact of NTIS and medium-term outcomes. The study design incorporates a two-module structure that covers a reduced protocol in form of an observation trial before patients give informed consent. Additional investigations are performed if and after

  14. Association between muscle strength and metabolic syndrome in older Korean men and women: the Korean Longitudinal Study on Health and Aging.

    Science.gov (United States)

    Yang, Eun Joo; Lim, Soo; Lim, Jae-Young; Kim, Ki Woong; Jang, Hak Chul; Paik, Nam-Jong

    2012-03-01

    The objective of the study was to investigate the association between metabolic syndrome (MS) and muscle strength in community-dwelling older men and women in Korea. Korean men and women 65 years and older living in a single, typical South Korean city (n = 647) were enrolled in the Korean Longitudinal Study on Health and Aging study. The diagnosis of MS was evaluated according to the definition of the National Cholesterol Education Program Adult Treatment Panel III. Isokinetic muscle strength of the knee extensors, as determined by peak torque per body weight (newton meter per kilogram) and hand-grip strength per body weight (newton per kilogram), was measured. Participants without MS had greater leg muscle strength and grip strength per weight. The effect of MS on muscle strength was more prominent in men than in women in our study population. Only men showed a significant interaction between MS and age for muscle strength (P = .014), and the effect was greater in men aged 65 to 74 years compared with those older than 75 years (119.2 ± 31.2 vs 134.5 ± 24.3 N m/kg). Participants with MS had weaker knee extensor strength after controlling the covariates (β = -90.80, P = .003), and the interaction term (age × MS × male sex) was significant (β = 1.00, P = .017). Metabolic syndrome is associated with muscle weakness, and this relationship is particularly pronounced in men. Age can modify the impact of MS on muscle strength. Men aged 65 to 74 years with MS need a thorough assessment of muscle strength to prevent disability. Copyright © 2012 Elsevier Inc. All rights reserved.

  15. Lower serum endogenous secretory receptor for advanced glycation end product level as a risk factor of metabolic syndrome among Japanese adult men: a 2-year longitudinal study.

    Science.gov (United States)

    Momma, Haruki; Niu, Kaijun; Kobayashi, Yoritoshi; Huang, Cong; Chujo, Masahiko; Otomo, Atsushi; Tadaura, Hiroko; Miyata, Toshio; Nagatomi, Ryoichi

    2014-02-01

    Receptor for advanced glycation end products (RAGE) activation by its ligands is implicated in obesity-related metabolic disease and accelerated atherothrombosis. Circulating soluble (sRAGE) and/or endogenous secretory RAGE (esRAGE) may counteract the detrimental effects of RAGE. This study aimed at determining the relationship between circulating RAGE and metabolic syndrome (MetS) incidence among Japanese adult men. This 2-year longitudinal study included 426 Japanese men aged 30-83 years who had no MetS at baseline. Serum esRAGE and sRAGE were assayed by ELISA at baseline. Incident metabolic syndrome, defined according to the Asian cutoff based on the 2009 criteria of the American Heart Association Scientific Statements, was evaluated after the 2-year follow-up. During the follow-up period, 55 participants (12.9%) had newly diagnosed MetS. In the multiple logistic models comparing MetS risk in the lowest with that in the highest tertile of baseline esRAGE, a high serum esRAGE level was found to be significantly associated with a low risk of MetS [odds ratios (95% confidence interval), 0.37 (0.14-0.95); P for trend = 0.038] after adjusting for lifestyle and sociodemographic factors, serum high-sensitivity C-reactive protein level, estimated glomerular filtration rate, and MetS components at baseline. Although sRAGE and esRAGE were strongly correlated (r(s) = 0.88), the sRAGE level was not associated with MetS incidence. A high circulating esRAGE level, but not sRAGE level, was associated with a low MetS incidence among Japanese adult men.

  16. Symptoms and quality of life in late stage Parkinson syndromes: a longitudinal community study of predictive factors.

    Directory of Open Access Journals (Sweden)

    Irene J Higginson

    Full Text Available BACKGROUND: Palliative care is increasingly offered earlier in the cancer trajectory but rarely in Idiopathic Parkinson's Disease(IPD, Progressive Supranuclear Palsy(PSP or Multiple System Atrophy(MSA. There is little longitudinal data of people with late stage disease to understand levels of need. We aimed to determine how symptoms and quality of life of these patients change over time; and what demographic and clinical factors predicted changes. METHODS: We recruited 82 patients into a longitudinal study, consenting patients with a diagnosis of IPD, MSA or PSP, stages 3-5 Hoehn and Yahr(H&Y. At baseline and then on up to 3 occasions over one year, we collected self-reported demographic, clinical, symptom, palliative and quality of life data, using Parkinson's specific and generic validated scales, including the Palliative care Outcome Scale (POS. We tested for predictors using multivariable analysis, adjusting for confounders. FINDINGS: Over two thirds of patients had severe disability, over one third being wheelchair-bound/bedridden. Symptoms were highly prevalent in all conditions - mean (SD of 10.6(4.0 symptoms. More than 50% of the MSA and PSP patients died over the year. Over the year, half of the patients showed either an upward (worsening, 24/60 or fluctuant (8/60 trajectory for POS and symptoms. The strongest predictors of higher levels of symptoms at the end of follow-up were initial scores on POS (AOR 1.30; 95%CI:1.05-1.60 and being male (AOR 5.18; 95% CI 1.17 to 22.92, both were more predictive than initial H&Y scores. INTERPRETATION: The findings point to profound and complex mix of non-motor and motor symptoms in patients with late stage IPD, MSA and PSP. Symptoms are not resolved and half of the patients deteriorate. Palliative problems are predictive of future symptoms, suggesting that an early palliative assessment might help screen for those in need of earlier intervention.

  17. Beneficial effects of growth hormone treatment on cognition in children with Prader-Willi syndrome: a randomized controlled trial and longitudinal study.

    Science.gov (United States)

    Siemensma, Elbrich P C; Tummers-de Lind van Wijngaarden, Roderick F A; Festen, Dederieke A M; Troeman, Zyrhea C E; van Alfen-van der Velden, A A E M Janielle; Otten, Barto J; Rotteveel, Joost; Odink, Roelof J H; Bindels-de Heus, G C B Karen; van Leeuwen, Mariette; Haring, Danny A J P; Oostdijk, Wilma; Bocca, Gianni; Mieke Houdijk, E C A; van Trotsenburg, A S Paul; Hoorweg-Nijman, J J Gera; van Wieringen, Hester; Vreuls, René C F M; Jira, Petr E; Schroor, Eelco J; van Pinxteren-Nagler, Evelyn; Willem Pilon, Jan; Lunshof, L Bert; Hokken-Koelega, Anita C S

    2012-07-01

    Knowledge about the effects of GH treatment on cognitive functioning in children with Prader-Willi syndrome (PWS) is limited. Fifty prepubertal children aged 3.5 to 14 yr were studied in a randomized controlled GH trial during 2 yr, followed by a longitudinal study during 4 yr of GH treatment. Cognitive functioning was measured biennially by short forms of the WPPSI-R or WISC-R, depending on age. Total IQ (TIQ) score was estimated based on two subtest scores. During the randomized controlled trial, mean sd scores of all subtests and mean TIQ score remained similar compared to baseline in GH-treated children with PWS, whereas in untreated controls mean subtest sd scores and mean TIQ score decreased and became lower compared to baseline. This decline was significant for the Similarities (P = 0.04) and Vocabulary (P = 0.03) subtests. After 4 yr of GH treatment, mean sd scores on the Similarities and Block design subtests were significantly higher than at baseline (P = 0.01 and P = 0.03, respectively), and scores on Vocabulary and TIQ remained similar compared to baseline. At baseline, children with a maternal uniparental disomy had a significantly lower score on the Block design subtest (P = 0.01) but a larger increment on this subtest during 4 yr of GH treatment than children with a deletion. Lower baseline scores correlated significantly with higher increases in Similarities (P = 0.04) and Block design (P deficit had more benefit from GH treatment.

  18. An inflammatory and trophic disconnect biomarker profile revealed in Down syndrome plasma: Relation to cognitive decline and longitudinal evaluation.

    Science.gov (United States)

    Iulita, M Florencia; Ower, Alison; Barone, Concetta; Pentz, Rowan; Gubert, Palma; Romano, Corrado; Cantarella, Rita Anna; Elia, Flaviana; Buono, Serafino; Recupero, Marilena; Romano, Carmelo; Castellano, Sabrina; Bosco, Paolo; Di Nuovo, Santo; Drago, Filippo; Caraci, Filippo; Cuello, A Claudio

    2016-11-01

    Given that Alzheimer's pathology develops silently over decades in Down syndrome (DS), prognostic biomarkers of dementia are a major need. We investigated the plasma levels of Aβ, proNGF, tPA, neuroserpin, metallo-proteases and inflammatory molecules in 31 individuals with DS (with and without dementia) and in 31 healthy controls. We examined associations between biomarkers and cognitive decline. Aβ40 and Aβ42 were elevated in DS plasma compared to controls, even in DS individuals without dementia. Plasma Aβ correlated with the rate of cognitive decline across 2 years. ProNGF, MMP-1, MMP-3, MMP-9 activity, TNF-α, IL-6, and IL-10 were higher in DS plasma, even at AD-asymptomatic stages. Declining plasma Aβ42 and increasing proNGF levels correlated with cognitive decline. A combined measure of Aβ and inflammatory molecules was a strong predictor of prospective cognitive deterioration. Our findings support the combination of plasma and cognitive assessments for the identification of DS individuals at risk of dementia. Copyright © 2016 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.

  19. A Retrospective, Longitudinal, Claims-Based Comparison of Concomitant Diagnoses Between Individuals with and Without Down Syndrome.

    Science.gov (United States)

    Kong, Amanda M; Hurley, Dana; Evans, Kristin A; Brixner, Diana; Csoboth, Csilla; Visootsak, Jeannie

    2017-07-01

    Individuals with Down syndrome (DS) experience various comorbidities in excess of the prevalence seen among the non-DS population. However, the extent of the excess burden of comorbidities specifically within commercially and publicly insured DS populations aged Company, receives payment from Genentech to conduct research, including the research for this study. Truven Health Analytics also receives payment from other pharmaceutical companies to conduct research. Kong and Evans are employed by Truven Health Analytics. Csoboth is employed by Genentech. Brixner reports fees paid to the University of Utah by Truven Health Analytics on her behalf for work related to this study. Hurley reports fees from Genentech for work on this study and for work outside of this study. At the time of this study, Visootsak was employed by F. Hoffman-LaRoche Pharmaceuticals, parent company of Genentech. All authors, including those affiliated with the study sponsor, were involved in the design of the study, interpretation of the data, writing of the manuscript, and the decision to submit the manuscript for publication. Study concept and design were contributed by Kong, Hurley, and Brixner, along with Evans. Kong and Evans collected the data, and data interpretation was performed by Csoboth, Visootsak, Brixner, and Hurley, with assistance from Kong. The manuscript was written by Evans, Kong, Hurley, and Brixner and revised by Kong, Hurley, Evans, and Brixner, with assistance from Csoboth and Visootsak.

  20. Risk of developing obstructive sleep apnea among women with polycystic ovarian syndrome: a nationwide longitudinal follow-up study.

    Science.gov (United States)

    Lin, Ting-Yang; Lin, Pei-Yin; Su, Tung-Ping; Li, Cheng-Ta; Lin, Wei-Chen; Chang, Wen-Hang; Chen, Tzeng-Ji; Bai, Ya-Mei; Chen, Mu-Hong

    2017-08-01

    Previous cross-sectional studies have suggested a comorbid relationship between polycystic ovarian syndrome (PCOS) and obstructive sleep apnea (OSA). However, the temporal association between these two distinct diseases has not yet been investigated. Using the Taiwan National Health Insurance Research Database, 4595 women with PCOS and 4595 (1:1) age-/sex-matched controls were enrolled into the present study between 1998 and 2009, and followed to the end of 2011. Those who developed OSA during the follow-up were identified. Women with PCOS had a greater incidence of developing OSA (1.71 vs 0.63 1000 person-years, p < 0.001) than those without PCOS. The Cox regression analysis after adjusting for demographic data and medical comorbidities showed that women with PCOS had an elevated likelihood of subsequent OSA (hazard ratio: 2.63, 95% CI 1.57-4.04) during the follow-up compared to the controls. Women with PCOS were associated with an increased risk of developing OSA in later life. Further studies would be required to investigate the underlying pathophysiology between PCOS and OSA, and to clarify whether prompt intervention for PCOS would reduce the risk of OSA. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. Examination of the Positive and Negative Syndrome Scale factor structure and longitudinal relationships with functioning in early psychosis.

    Science.gov (United States)

    Best, Michael W; Grossman, Michael; Oyewumi, L Kola; Bowie, Christopher R

    2016-04-01

    We examined the factor structure of the Positive and Negative Syndrome Scale (PANSS) in early-episode psychosis and its relationships with functioning at baseline and follow-up. A total of 240 consecutive admissions to an early intervention in psychosis clinic were assessed at intake to the program with the PANSS, Global Assessment of Functioning (GAF) and Social and Occupational Functioning Assessment Scale (SOFAS). Seventy individuals were reassessed at follow-up. A maximum likelihood factor analysis was conducted on baseline PANSS scores and the ability of each factor to predict baseline and follow-up GAF and SOFAS was examined. A five-factor model with varimax rotation was the best fit to our data and was largely congruent with factors found previously. The negative symptom factor was the best predictor of GAF and SOFAS at baseline and follow-up. Negative symptoms are the best symptomatic predictor of functioning in individuals with early psychosis and are an important treatment target to improve recovery. © 2014 Wiley Publishing Asia Pty Ltd.

  2. The natural history of children with joint hypermobility syndrome and Ehlers-Danlos hypermobility type: a longitudinal cohort study.

    Science.gov (United States)

    Scheper, Mark C; Nicholson, Lesley L; Adams, Roger D; Tofts, Louise; Pacey, Verity

    2017-12-01

    The objective of the manuscript was to describe the natural history of complaints and disability in children diagnosed with joint hypermobility syndrome (JHS)/Ehlers-Danlos-hypermobility type (EDS-HT) and to identify the constructs that underlie functional decline. One hundred and one JHS/EDS-HT children were observed over 3 years and assessed at three time points on the following: functional impairments, quality of life, connective tissue laxity, muscle function, postural control and musculoskeletal and multi-systemic complaints. Cluster analysis was performed to identify subgroups in severity. Clinical profiles were determined for these subgroups, and differences were assessed by multivariate analysis of covariance. Mixed linear regression models were used to determine the subsequent trajectories. Finally, an exploratory factor analysis was used to uncover the underlying constructs of functional impairment. Three clusters of children were identified in terms of functional impairment: mild, moderately and severely affected. Functional impairment at baseline was predictive of worsening trajectories in terms of reduced walking distance and decreased quality of life (P ⩽ 0.05) over 3 years. Multiple interactions between the secondary outcomes were observed, with four underlying constructs identified. All four constructs (multi-systemic effects, pain, fatigue and loss of postural control) contributed significantly to disability (P ⩽ 0.046). Children diagnosed with JHS/EDS-HT who have a high incidence of multi-systemic complaints (particularly, orthostatic intolerance, urinary incontinence and diarrhoea) and poor postural control in addition to high levels of pain and fatigue at baseline are most likely to have a deteriorating trajectory of functional impairment and, accordingly, warrant clinical prioritization. © The Author 2017. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please

  3. Regenerative nodules in patients with chronic Budd-Chiari syndrome: A longitudinal study using multiphase contrast-enhanced multidetector CT

    International Nuclear Information System (INIS)

    Flor, Nicola; Zuin, Massimo; Brovelli, Francesca; Maggioni, Marco; Tentori, Augusta; Sardanelli, Francesco; Cornalba, Gian Paolo

    2010-01-01

    Objective: Our aim was to evaluate the serial evolution of regenerative nodules in patients with Budd-Chiari syndrome (BCS) treated with portal-systemic shunts, using multiphasic multidetector computed tomography (MDCT). Materials and methods: Five patients each underwent three MDCT exams over an extended period ranging from 36 to 42 months. Two radiologists in consensus retrospectively reviewed each exam for each patient. Individual nodules were grouped according to size (size I: nodules with diameter ≤15 mm; size II: >15 mm but <30 mm; size III: ≥30 mm), pattern of enhancement (A: homogeneously hypervascular or B: with central scar), and segmental location. Four nodules classified as size II, which increased in size over time, were needle-biopsied. Results: We detected 61 nodules at the first exam, 66 nodules at the second exam (7 nodules disappeared and 12 new nodules), and 85 nodules at the third exam (8 disappeared and 27 new) for a total of 212 findings. Nodules were mostly found in the right hepatic lobe. Fourteen of the 15 nodules that disappeared over time were size I and enhancement pattern A. At unenhanced MDCT, 204 (96%) of the 212 findings were isodense. Overall, 100 nodules, including the 61 initially detected, were considered newly diagnosed; of these 84 (84%) were size I and pattern A. Of 57 nodules considered size I and pattern A at the first or second exam, 24 (42%) changed to pattern B at the third exam and either size II (n = 18) or III (n = 6). The four biopsied nodules were each confirmed as benign regenerative nodule. No patient developed HCC at 5-year follow-up period. Conclusion: Hepatic nodules in BCS patients not only increase in number over time but may also increase in size and develop a central scar.

  4. Effects of Different Dietary and Lifestyle Modification Therapies on Metabolic Syndrome in Prediabetic Arab Patients: A 12-Month Longitudinal Study

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    Hanan A. Alfawaz

    2018-03-01

    Full Text Available This three-arm, randomized, controlled study aimed to determine the differences in the effects of general advice (GA on lifestyle change, intensive lifestyle modification programme (ILMP and GA + metformin (GA + Met in reducing the prevalence of full metabolic syndrome (MetS in subjects with prediabetes; 294 Saudis with prediabetes (fasting glucose 5.6–6.9 mmol/L were initially randomized, 263 completed 6 months and 237 completed 12 months. They were allocated into three groups: GA group which received a standard lifestyle change education; ILMP which followed a rigorous lifestyle modification support on diet and physical activity; and a GA + Met group. Anthropometric and biochemical estimations were measured. Full MetS (primary endpoint and its components (secondary endpoint were screened at baseline, 6 and 12 months. Full MetS in the ILMP group decreased by 26% (p < 0.001; in GA + Met group by 22.4% (p = 0.01 and in GA group by 8.2% (p = 0.28. The number of MetS components decreased significantly in the ILMP and GA + Met groups (mean change 0.81, p < 0.001 and 0.35, p = 0.05, respectively. Between-group comparison revealed a clinically significant decrease in MetS components in favor of the ILMP group (−0.58 (−0.88–0.28, p < 0.001. This study highlights the clinical potency of ILMP versus other diabetes prevention options in reducing MetS in Saudi adults with elevated fasting glucose.

  5. Poor Illness Perceptions Are a Risk Factor for Depressive and Anxious Symptomatology in Fibromyalgia Syndrome: A Longitudinal Cohort Study

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    Eric W. de Heer

    2017-11-01

    Full Text Available BackgroundPatients with widespread pain, such as in fibromyalgia, are vulnerable for depression and anxiety, which composes a relevant public health problem. Identifying risk factors for the onset of depression and anxiety is therefore warranted. Objective of this study was to determine whether severe pain, maladaptive coping, and poor illness perceptions are associated with depressive and anxious symptomatology in fibromyalgia.MethodConsecutive patients referred to an outpatient clinic completed sets of physical and psychological questionnaires at baseline and at 18-month follow-up. A total of 452 patients with fibromyalgia syndrome (FMS were eligible for inclusion, and subsequently, 280 patients returned the baseline questionnaire. Depressive and anxious symptomatology was measured with the Hospital Anxiety and Depression Scale. To measure pain severity, coping style, and illness perceptions, the Fibromyalgia Impact Questionnaire, Pain Coping Inventory, and the Illness Perception Questionnaire-Revised (IPQ-R were used, respectively. Multivariable logistic regression analyses, bootstrapping and calibration, were performed to examine the association of pain severity, pain coping, and illness perception with depressive and anxiety symptoms at follow-up, adjusted for sociodemographic variables. Initial level of depressive and anxiety symptoms was selected as covariates.ResultsMean age was 42.6 years and 95.4% were female. At 18-month follow-up, 68 (of the 195 patients were depressed and 80 (of the 197 were anxious. Only the IPQ-R subscale “emotional representations” showed a significant positive association with depressive symptoms at follow-up (OR = 1.10, next to the initial level of depressive symptoms (OR = 1.30. In case of anxiety, only the IPQ-R subscale “treatment control” showed a significant negative association with anxiety symptoms at follow-up (OR = 0.87, next to the initial level of anxiety symptoms (OR = 1

  6. Insights into the clinical management of the syndrome of supine hypertension--orthostatic hypotension (SH-OH): the Irish Longitudinal Study on Ageing (TILDA).

    Science.gov (United States)

    Romero-Ortuno, Roman; O'Connell, Matthew D L; Finucane, Ciaran; Soraghan, Christopher; Fan, Chie Wei; Kenny, Rose Anne

    2013-07-15

    Our previously proposed morphological classification of orthostatic hypotension (MOH) is an approach to the definition of three typical orthostatic hemodynamic patterns using non-invasive beat-to-beat monitoring. In particular, the MOH pattern of large drop/non-recovery (MOH-3) resembles the syndrome of supine hypertension-orthostatic hypotension (SH-OH), which is a treatment challenge for clinicians. The aim of this study was to characterise MOH-3 in the first wave of The Irish Longitudinal Study of Ageing (TILDA), with particular attention to concurrent symptoms of orthostatic intolerance (OI), prescribed medications and association with history of faints and blackouts. The study included all TILDA wave 1 participants who had a Finometer® active stand. Automatic data signal checks were carried out to ensure that active stand data were of sufficient quality. Characterisation variables included demographics, cardiovascular and neurological medications (WHO-ATC), and self-reported information on comorbidities and disability. Multivariable statistics consisted of logistic regression models. Of the 4,467 cases, 1,456 (33%) were assigned to MOH-1 (small drop, overshoot), 2,230 (50%) to MOH-2 (medium drop, slower but full recovery), and 781 (18%) to MOH-3 (large drop, non-recovery). In the logistic regression model to predict MOH-3, statistically significant factors included being on antidepressants (OR = 1.99, 95% CI: 1.50 - 2.64, P hypertensive patients with cardiovascular medications that were not associated with adverse outcomes in our study. Therefore, the evidence of benefit does not necessarily have to conflict with the evidence of potential harm.

  7. Association of triiodothyronine levels with future development of metabolic syndrome in euthyroid middle-aged subjects: a 6-year retrospective longitudinal study.

    Science.gov (United States)

    Kim, Hye Jeong; Bae, Ji Cheol; Park, Hyeong Kyu; Byun, Dong Won; Suh, Kyoil; Yoo, Myung Hi; Jae Hwan, Jee; Kim, Jae Hyeon; Min, Yong-Ki; Kim, Sun Wook; Chung, Jae Hoon

    2017-04-01

    Several cross-sectional studies have reported that thyroid hormone levels are associated with cardiovascular risk markers and metabolic syndrome (MetS) even in euthyroid subjects. However, the prognostic role of serum thyroid hormone levels in the risk of incident MetS has not been elucidated. We aimed to investigate the associations of baseline serum thyroid hormone levels with the development of MetS in healthy subjects. This 6-year, cross-sectional, longitudinal and follow-up study was conducted in 12 037 euthyroid middle-aged subjects without MetS subjected to comprehensive health examinations. Subjects were grouped according to total triiodothyronine (T3) quartiles. The hazard ratio (HR) for the development of MetS according to T3 quartiles was estimated using Cox proportional hazards model. During the 6-year period, 3544 incident cases of MetS (29%) were identified. The proportion of subjects with incident MetS increased across the T3 quartiles ( P for trend <0.001). The HR and 95% confidence interval (CI) for the development of MetS were significantly higher in the highest T3 quartile compared with the lowest T3 quartile even after adjusting for confounding variables including gender, age and smoking (HR: 1.238, 95% CI: 1.128-1.358, P  < 0.001). In euthyroid middle-aged subjects, serum T3 levels are associated with increased risk for future development of MetS. © 2017 European Society of Endocrinology.

  8. Polycystic ovary syndrome, androgen excess, and the risk of nonalcoholic fatty liver disease in women: A longitudinal study based on a United Kingdom primary care database.

    Science.gov (United States)

    Kumarendran, Balachandran; O'Reilly, Michael W; Manolopoulos, Konstantinos N; Toulis, Konstantinos A; Gokhale, Krishna M; Sitch, Alice J; Wijeyaratne, Chandrika N; Coomarasamy, Arri; Arlt, Wiebke; Nirantharakumar, Krishnarajah

    2018-03-01

    Androgen excess is a defining feature of polycystic ovary syndrome (PCOS), which affects 10% of women and represents a lifelong metabolic disorder, with increased risk of type 2 diabetes, hypertension, and cardiovascular events. Previous studies have suggested an increased risk of nonalcoholic fatty liver disease (NAFLD) in individuals with PCOS and implicated androgen excess as a potential driver. We carried out a retrospective longitudinal cohort study utilizing a large primary care database in the United Kingdom, evaluating NAFLD rates in 63,120 women with PCOS and 121,064 age-, body mass index (BMI)-, and location-matched control women registered from January 2000 to May 2016. In 2 independent cohorts, we also determined the rate of NAFLD in women with a measurement of serum testosterone (n = 71,061) and sex hormone-binding globulin (SHBG; n = 49,625). We used multivariate Cox models to estimate the hazard ratio (HR) for NAFLD and found that women with PCOS had an increased rate of NAFLD (HR = 2.23, 95% CI 1.86-2.66, p 3.0 nmol/L was associated with an increase in NAFLD (HR = 2.30, 95% CI 1.16-4.53, p = 0.017 for 3-3.49 nmol/L and HR = 2.40, 95% CI 1.24-4.66, p = 0.009 for >3.5 nmol/L). Mirroring this finding, SHBG PCOS and NAFLD, and absence of data on laboratory assays used to measure serum androgens. We found that women with PCOS have an increased rate of NAFLD. In addition to increased BMI and dysglycemia, androgen excess contributes to the development of NAFLD in women with PCOS. In women with PCOS-related androgen excess, systematic NAFLD screening should be considered.

  9. Polycystic ovary syndrome, androgen excess, and the risk of nonalcoholic fatty liver disease in women: A longitudinal study based on a United Kingdom primary care database

    Science.gov (United States)

    Kumarendran, Balachandran; O’Reilly, Michael W.; Manolopoulos, Konstantinos N.; Toulis, Konstantinos A.; Gokhale, Krishna M.; Sitch, Alice J.; Wijeyaratne, Chandrika N.; Coomarasamy, Arri

    2018-01-01

    Background Androgen excess is a defining feature of polycystic ovary syndrome (PCOS), which affects 10% of women and represents a lifelong metabolic disorder, with increased risk of type 2 diabetes, hypertension, and cardiovascular events. Previous studies have suggested an increased risk of nonalcoholic fatty liver disease (NAFLD) in individuals with PCOS and implicated androgen excess as a potential driver. Methods and findings We carried out a retrospective longitudinal cohort study utilizing a large primary care database in the United Kingdom, evaluating NAFLD rates in 63,120 women with PCOS and 121,064 age-, body mass index (BMI)-, and location-matched control women registered from January 2000 to May 2016. In 2 independent cohorts, we also determined the rate of NAFLD in women with a measurement of serum testosterone (n = 71,061) and sex hormone-binding globulin (SHBG; n = 49,625). We used multivariate Cox models to estimate the hazard ratio (HR) for NAFLD and found that women with PCOS had an increased rate of NAFLD (HR = 2.23, 95% CI 1.86–2.66, p 3.0 nmol/L was associated with an increase in NAFLD (HR = 2.30, 95% CI 1.16–4.53, p = 0.017 for 3–3.49 nmol/L and HR = 2.40, 95% CI 1.24–4.66, p = 0.009 for >3.5 nmol/L). Mirroring this finding, SHBG <30 nmol/L was associated with increased NAFLD hazard (HR = 4.75, 95% CI 2.44–9.25, p < 0.001 for 20–29.99 nmol/L and HR = 4.98, 95% CI 2.45–10.11, p < 0.001 for <20 nmol/L). Limitations of this study include its retrospective nature, absence of detailed information on criteria used to diagnosis PCOS and NAFLD, and absence of data on laboratory assays used to measure serum androgens. Conclusions We found that women with PCOS have an increased rate of NAFLD. In addition to increased BMI and dysglycemia, androgen excess contributes to the development of NAFLD in women with PCOS. In women with PCOS-related androgen excess, systematic NAFLD screening should be considered. PMID:29590099

  10. The Effect of Changing Serum 25-Hydroxyvitamin D Concentrations on Metabolic Syndrome: A Longitudinal Analysis of Participants of a Preventive Health Program

    Directory of Open Access Journals (Sweden)

    Truong-Minh Pham

    2015-08-01

    Full Text Available Several studies have shown that a poor vitamin D status may increase the risk of developing metabolic syndrome, which leaves the question whether improving one’s vitamin D status may reduce the risk for the syndrome. Here we investigate the effect of temporal changes in serum 25-hydroxyvitamin D (25(OHD concentrations on metabolic syndrome among Canadians enrolled in a preventive health program that promotes vitamin D supplementation. We accessed and analyzed data of 6682 volunteer participants with repeated observations on serum 25(OHD concentrations and metabolic syndrome. We applied logistic regression to quantify the independent contribution of baseline serum 25(OHD and temporal increases in serum 25(OHD to the development of metabolic syndrome. In the first year in the program, participants, on average, increased their serum 25(OHD concentrations by 37 nmol/L. We observed a statistical significant inverse relationship of increases in serum 25(OHD with risk for metabolic syndrome. Relative to those without improvements, those who improved their serum 25(OHD concentrations with less 25 nmol/L, 25 to 50 nmol/L, 50 to 75 nmol/L, and more 75 nmol/L had respectively 0.76, 0.64, 0.59, 0.56 times the risk for metabolic syndrome at follow up. These estimates were independent of the effect of baseline serum 25(OHD concentrations on metabolic syndrome. Improvement of vitamin D status may help reduce the public health burden of metabolic syndrome, and potential subsequent health conditions including type 2 diabetes and cardiovascular disease.

  11. C-reactive protein, high-molecular-weight adiponectin and development of metabolic syndrome in the Japanese general population: a longitudinal cohort study.

    Directory of Open Access Journals (Sweden)

    Yoshifumi Saisho

    Full Text Available AIMS: To clarify predictive values of C-reactive protein (CRP and high-molecular-weight (HMW adiponectin for development of metabolic syndrome. RESEARCH DESIGN AND METHODS: We conducted a prospective cohort study of Japanese workers who had participated in an annual health checkup in 2007 and 2011. A total of 750 subjects (558 men and 192 women, age 46±8 years who had not met the criteria of metabolic syndrome and whose CRP and HMW-adiponectin levels had been measured in 2007 were enrolled in this study. Associations between CRP, HMW-adiponectin and development of metabolic syndrome after 4 years were assessed by logistic regression analysis and their predictive values were compared by receiver operating characteristic analysis. RESULTS: Among 750 subjects, 61 (8.1% developed metabolic syndrome defined by modified National Cholesterol Education Program Adult Treatment Panel III (NCEP-ATP III criteria and 53 (7.1% developed metabolic syndrome defined by Japan Society for the Study of Obesity (JASSO in 2011. Although CRP and HMW-adiponectin were both significantly correlated with development of metabolic syndrome, multivariate logistic regression analysis revealed that HMW-adiponectin but not CRP was associated with metabolic syndrome independently of BMI or waist circumference. Adding these biomarkers to BMI or waist circumference did not improve the predictive value for metabolic syndrome. CONCLUSION: Our findings indicate that the traditional markers of adiposity such as BMI or waist circumference remain superior markers for predicting metabolic syndrome compared to CRP, HMW-adiponectin, or the combination of both among the Japanese population.

  12. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  13. FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: longitudinal study of 70 Turner girls with or without spontaneous puberty

    DEFF Research Database (Denmark)

    Hagen, Casper P; Main, Katharina M; Kjaergaard, Susanne

    2010-01-01

    Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function.......Ovarian function in Turner syndrome (TS) patients depends on the specific karyotype. This retrospective clinical study evaluates the pituitary-gonadal axis during infancy, childhood and adolescence in TS patients according to karyotype and ovarian function....

  14. Longitudinal relationship of diet and oxidative stress with depressive symptoms in patients with metabolic syndrome after following a weight loss treatment: the RESMENA project.

    Science.gov (United States)

    Perez-Cornago, Aurora; Lopez-Legarrea, Patricia; de la Iglesia, Rocio; Lahortiga, Francisca; Martinez, J Alfredo; Zulet, M Angeles

    2014-12-01

    Metabolic syndrome and depression seem to share some common underlying mechanisms, although less is known about the impact of metabolic syndrome dietary treatments on depression. This study examined the association between a hypocaloric treatment designed to reduce metabolic syndrome features in self-perceived depression and the potential involvement of dietary components and oxidative stress changes. Analyses were based on volunteers (n = 55) with metabolic syndrome (age 50 ± 1 y.o.; 38M/17F), where depressive symptoms were assessed using the Beck Depression Inventory. Participants followed two hypocaloric diets (control diet and RESMENA diet) with the same energy restriction (-30% TCV) for six months. Depressive symptoms, dietary records, anthropometrical measurements, biochemical parameters and oxidative stress levels were analysed. Both diets improved self-perceived depression similarly (p = 0.528). Participants with lower depressive symptoms at baseline reported a significantly higher intake of omega-3 polyunsaturated fatty acids (p trend = 0.002). Interestingly, after adjusting for potential confounders, the increase in folate consumption (p = 0.011) and the decrease in plasma malondialdehyde levels (p = 0.012) throughout the intervention, were associated with the improvement in depressive symptoms. A higher intake of folate and a decline in malondialdehyde plasma levels during a weight loss intervention, were related to improvements in manifestations of depression (www.clinicaltrials.gov; NCT01087086). Copyright © 2013 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  15. The AQUA-FONTIS study: protocol of a multidisciplinary, cross-sectional and prospective longitudinal study for developing standardized diagnostics and classification of non-thyroidal illness syndrome

    OpenAIRE

    Dietrich, Johannes W; Stachon, Axel; Antic, Biljana; Klein, Harald H; Hering, Steffen

    2008-01-01

    Abstract Background Non-thyroidal illness syndrome (NTIS) is a characteristic functional constellation of thyrotropic feedback control that frequently occurs in critically ill patients. Although this condition is associated with significantly increased morbidity and mortality, there is still controversy on whether NTIS is caused by artefacts, is a form of beneficial adaptation, or is a disorder requiring treatment. Trials investigating substitution therapy of NTIS revealed contradictory resul...

  16. Clinical Features and Genetic Background of the Periodic Fever Syndrome with Aphthous Stomatitis, Pharyngitis, and Adenitis: A Single Center Longitudinal Study of 81 Patients

    Directory of Open Access Journals (Sweden)

    Daša Perko

    2015-01-01

    Full Text Available PFAPA syndrome is the most common autoinflammatory disorder in childhood with unknown etiology. The aim of our study was clinical evaluation of PFAPA patients from a single tertiary care center and to determine whether variations of AIM2, MEFV, NLRP3, and MVK genes are involved in PFAPA pathogenesis. Clinical and laboratory data of consecutive patients with PFAPA syndrome followed up at the University Children’s Hospital, Ljubljana, were collected from 2008 to 2014. All four genes were PCR amplified and directly sequenced. Eighty-one patients fulfilled criteria for PFAPA syndrome, 50 (63% boys and 31 (37% girls, with mean age at disease onset of 2.1 ± 1.5 years. Adenitis, pharyngitis, and aphthae were present in 94%, 98%, and 56%, respectively. Family history of recurrent fevers in childhood was positive in 78%. Nineteen variants were found in 17/62 (27% patients, 4 different variants in NLRP3 gene in 13 patients, and 6 different variants in MEFV gene in 5 patients, and 2 patients had 2 different variants. No variants of clinical significance were found in MVK and AIM2 genes. Our data suggest that PFAPA could be the result of multiple low-penetrant variants in different genes in combination with epigenetic and environmental factors leading to uniform clinical picture.

  17. Internato Longitudinal

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    Marcelo Marcos Piva Demarzo

    Full Text Available O internato médico tem gerado recorrente debate frente às transformações curriculares em andamento no País. A despeito das discussões, um modelo de internato consonante com essas mudanças ainda não foi consistentemente delineado. Neste ensaio, trazemos uma proposta de matriz estruturante para o internato médico. Propomos que o internato médico seja realizado durante os seis anos do curso, de forma longitudinal, tendo como eixo estruturante a clínica da Atenção Básica (AB. Esse modelo de "internato longitudinal" prevê a introdução progressiva na prática clínica, iniciando-se pela AB nos dois primeiros anos, acrescentando-se progressivamente os ambulatórios de especialidades, os estágios hospitalares e demais atividades práticas, alcançando-se, dessa forma, o rol de diversidade e complexidade previsto para o egresso da escola médica.

  18. Right-ventricular global longitudinal strain may predict neo-aortic arch obstruction after Norwood/Sano procedure in children with hypoplastic left heart syndrome.

    Science.gov (United States)

    Raucci, Frank J; Seckeler, Michael D; Saunders, Christine; Gangemi, James J; Peeler, Benjamin B; Jayakumar, K Anitha

    2013-01-01

    Neo-aortic arch obstruction (NAAO) is a common complication following the Norwood/Sano procedure (NP) for hypoplastic left heart syndrome (HLHS) and is associated with increased morbidity and mortality. However, there is currently no objective method for predicting which patients will develop NAAO. This study was designed to test the hypothesis that hemodynamic changes from development of NAAO after NP in patients with HLHS will lead to changes in myocardial dynamics that could be detected before clinical symptoms develop with strain analysis using velocity vector imaging. Patients with HLHS who had at least one cardiac catheterization after NP were identified retrospectively. Strain analysis was performed on all echocardiograms preceding the first catheterization and any subsequent catheterization performed for intervention on NAAO. Twelve patients developed NAAO and 30 patients never developed NAAO. Right ventricular strain was worse in the group that developed NAAO (-6.2 vs. -8.6 %, p = 0.040) at a median of 59 days prior to diagnosis of NAAO. Those patients that developed NAAO following NP were significantly younger at the time of first catheterization than those that did not develop NAAO (92 ± 50 vs. 140 ± 36 days, p = 0.001). This study demonstrates that right ventricular GLS is abnormal in HLHS patients following NP and worsening right ventricular strain may be predictive of the future development of NAAO.

  19. Effect of air humidification on the sick building syndrome and perceived indoor air quality in hospitals: a four month longitudinal study.

    Science.gov (United States)

    Nordström, K; Norbäck, D; Akselsson, R

    1994-01-01

    The sensation of dryness and irritation is essential in the sick building syndrome (SBS), and such symptoms are common in both office and hospital employees. In Scandinavia, the indoor relative humidity in well ventilated buildings is usually in the range 10-35% in winter. The aim of this study was to evaluate the effect of steam air humidification on SBS and perceived air quality during the heating season. The study base consisted of a dynamic population of 104 hospital employees, working in four new and well ventilated geriatric hospital units in southern Sweden. Air humidification raised the relative air humidity to 40-45% in two units during a four months period, whereas the other two units served as controls with relative humidity from 25-35%. Symptoms and perceived indoor air quality were measured before and after the study period by a standardised self administered questionnaire. The technical measurements comprised room temperature, air humidity, static electricity, exhaust air flow, aerosols, microorganisms, and volatile organic compounds in the air. The most pronounced effect of the humidification was a significant decrease of the sensation of air dryness, static electricity, and airway symptoms. After four months of air humidification during the heating season, 24% reported a weekly sensation of dryness in humidified units, compared with 73% in controls. No significant changes in symptoms of SBS or perceived air quality over time were found in the control group. The room temperature in all units was between 21-23 degrees C, and no significant effect of air humidification on the air concentration of aerosols or volatile organic compounds was found. No growth of microorganisms was found in the supply air ducts, and no legionella bacteria were found in the supply water of the humidifier. Air humidification, however, significantly reduced the measured personal exposure to static electricity. It is concluded that air humidification during the heating season

  20. Clinical outcomes and medication adherence in acute coronary syndrome patients with and without type 2 diabetes mellitus: a longitudinal analysis 2006-2011.

    Science.gov (United States)

    Cziraky, Mark J; Reddy, Vanessa S; Luthra, Rakesh; Xu, Yaping; Wilhelm, Kenneth; Power, Thomas P; Fisher, Maxine D

    2015-06-01

    The presence of type 2 diabetes mellitus magnifies the risks associated with acute coronary syndrome (ACS), increasing the risk of recurrent cardiovascular events (CVEs) and doubling the risk of death. Managing cardiovascular risk factors has little effect on lowering the mortality risk in patients with type 2 diabetes. To evaluate the relationship between type 2 diabetes mellitus and subsequent CVEs and medication adherence following ACS hospitalization. Patients with ACS were identified using ICD-9-CM codes for acute myocardial infarction or unstable angina. The risk of subsequent CVEs was assessed at 1 and 3 years after the index ACS event based on type 2 diabetes status, adjusting for baseline demographic characteristics, comorbidities, medication use, and index ACS characteristics. Of 140,903 patients with ACS (mean age 66.8 years, 58.6% male), 27.4% had type 2 diabetes. During follow-up, 22.0% had subsequent CVEs (26.2% type 2 diabetes, 19.0% nondiabetes). After adjusting for other covariates, type 2 diabetes was associated with increased risk of subsequent CVEs by 9.7% at 1 year and 10.2% at 3 years (both P diabetes, 77.5% nondiabetes). Patients with type 2 diabetes had statistically significant higher adherence rates for antiplatelet agents at 1 year and antihypertensives at 1 and 3 years versus nondiabetes patients. Persistence was higher in the type 2 diabetes group for antihypertensives and in the nondiabetes group for antiplatelet agents and statins. This analysis demonstrates that patients with type 2 diabetes have a higher risk of subsequent CVEs following an initial event versus those without diabetes, despite evidence of higher treatment persistence for certain medications. Adherence rates remained suboptimal, suggesting a continuing need for patient education.

  1. Early-life nutritional status and metabolic syndrome: gender-specific associations from a cross-sectional analysis of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

    Science.gov (United States)

    Briskiewicz, Bruna Lucas; Barreto, Sandhi Maria; do Amaral, Joana Ferreira; Diniz, Maria de Fátima Haueisen Sander; Molina, Maria Del Carmen Bisi; Matos, Sheila Maria Alvim; Cardoso, Letícia de Oliveira; Velasquez-Melendez, Gustavo; Schmidt, Maria Inês; Giatti, Luana

    2018-06-01

    In the present study we investigated gender-specific associations of low birth weight (LBW) and shorter relative leg length with metabolic syndrome (MetS) after adjusting for sociodemographic characteristics and health-related behaviours. We also investigated whether these associations are independent of age at menarche and BMI at 20 years old. Cross-sectional analysis. Baseline data from 12 602 participants (35-74 years) of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), 2008-2010. MetS was defined according to the revised National Cholesterol Education Program Adult Treatment Panel III guidelines. LBW (<2·5 kg) and age- and sex-standardized relative leg length (high, medium and low) were the explanatory variables studied. The strength of the associations between the explanatory variables and MetS was estimated by Poisson regression with robust variance. MetS prevalence was 34·2 %; it was more prevalent in men (36·8 %) than in women (32·2 %). In multivariate analysis, LBW was associated (prevalence ratio; 95 % CI) with MetS only in women (1·28; 1·24, 1·45). Shorter leg length was associated with MetS in both men (1·21; 1·09, 1·35 and 1·46; 1·29, 1·65 for low and medium lengths, respectively) and women (1·12; 1·00, 1·25 and 1·40; 1·22, 1·59 for low and medium lengths, respectively). Additional adjustments for age at menarche and BMI at 20 years old did not change the associations. Poor nutritional status as estimated by LBW and lower leg length in childhood was associated with a higher prevalence of MetS, although LBW was a significant factor only among women.

  2. Growth hormone/IGF-1 axis longitudinal evaluation in clinically isolated syndrome patients on interferon β-1b therapy: stimulation tests and correlations with clinical and radiological conversion to multiple sclerosis.

    Science.gov (United States)

    Lanzillo, R; Di Somma, C; Quarantelli, M; Carotenuto, A; Pivonello, C; Moccia, M; Cianflone, A; Marsili, A; Puorro, G; Saccà, F; Russo, C V; De Luca Picione, C; Ausiello, F; Colao, A; Brescia Morra, V

    2017-02-01

    Growth hormone (GH)/insulin-like growth factor 1 (IGF-1) axis abnormalities in multiple sclerosis (MS) suggest their role in its pathogenesis. Interferon β (IFN-β) efficacy could be mediated also by an increase of IGF-1 levels. A 2-year longitudinal study was performed to estimate the prevalence of GH and/or IGF-1 deficiency in clinically isolated syndrome (CIS) patients and their correlation with conversion to MS in IFN treated patients. Clinical and demographic features of CIS patients were collected before the start of IFN-β-1b. IGF-1 levels and GH response after arginine and GH releasing hormone + arginine stimulation tests were assessed. Clinical and magnetic resonance imaging evaluations were performed at baseline, 1 year and 2 years. Thirty CIS patients (24 female) were enrolled. At baseline, four patients (13%) showed a hypothalamic GH deficiency (GHD), whilst no one had a pituitary GHD. Baseline demographic, clinical and radiological data were not related to GHD, whilst IGF-1 levels were inversely related to age (P IGF-1 serum mean levels were not significantly modified after 1 and 2 years of treatment in the whole group, although 3/4 GHD patients experienced a normalization of GH levels, whilst one dropped out. After 2 years of treatment 13/28 (46%) patients converted to MS. The presence of GHD and GH and IGF-1 levels were not predictive of relapses, new T2 lesions or conversion occurrence. Growth hormone/IGF-1 axis function was found to be frequently altered in CIS patients, but this was not related to MS conversion. Patients experienced an improvement of GHD during IFN therapy. Longer follow-up is necessary to assess its impact on disease progression. © 2016 EAN.

  3. Parental mood during pregnancy and post-natally is associated with offspring risk of Tourette syndrome or chronic tics: prospective data from the Avon Longitudinal Study of Parents and Children (ALSPAC).

    Science.gov (United States)

    Ben-Shlomo, Y; Scharf, J M; Miller, L L; Mathews, C A

    2016-04-01

    Little is known about risk factors for Tourette syndrome (TS) and chronic tic disorders (CT) but maternal psychological morbidity in pregnancy may be associated with TS/CT. We examined whether pre- and post-natal parental anxiety and/or depression are associated with risk of TS/CT in the Avon Longitudinal Study of Parents and Children. We compared self-reported anxiety and depression measures collected prospectively at four time points (18 and 32 weeks prenatally, and 8 weeks and 8 months post-natally) among parents of children who subsequently met criteria for TS/CT at 13 years of age as compared to other children from the cohort. We adjusted for various socioeconomic measures and tested both for time period-specific exposure and chronic exposure using multivariable logistic regression models. 122 children had TS/CT (50 TS, 72 CT) and 5968 children had no tics. In crude analyses, both pre- and post-natal maternal anxiety and depression, but only post-natal paternal depression at 8 months, showed associations with TS/CT. In the final, adjusted multivariable models, chronic maternal anxiety (odds ratio 2.17, 95% CI 1.23, 3.84, p = 0.007) and pre-natal maternal depression (odds ratio 1.86, 95% CI 1.02, 3.39, p = 0.04) showed associations with TS/CT though the latter was consistent with chance (p = 0.07) after adjustment for past maternal depression. We find associations between maternal psychological morbidity pre- and post-natally and risk of future TS/CT in offspring. These associations may reflect either shared genetic susceptibility or a pre-natal exposure. Further work is required to see if these findings can be replicated in larger datasets.

  4. The Impact of Educational Status on 10-Year (2004-2014 Cardiovascular Disease Prognosis and All-cause Mortality Among Acute Coronary Syndrome Patients in the Greek Acute Coronary Syndrome (GREECS Longitudinal Study

    Directory of Open Access Journals (Sweden)

    Venetia Notara

    2016-07-01

    Full Text Available Objectives: The association between educational status and 10-year risk for acute coronary syndrome (ACS and all-cause mortality was evaluated. Methods: From October 2003 to September 2004, 2172 consecutive ACS patients from six Greek hospitals were enrolled. In 2013 to 2014, a 10-year follow-up (2004-2014 assessment was performed for 1918 participants (participation rate, 88%. Each patient’s educational status was classified as low (14 years. Results: Overall all-cause mortality was almost twofold higher in the low-education group than in the intermediate-education and high-education groups (40% vs. 22% and 19%, respectively, p<0.001. Additionally, 10-year recurrent ACS events (fatal and non-fatal were more common in the low-education group than in the intermediate-education and high-education groups (42% vs. 30% and 35%, p<0.001, and no interactions between sex and education on the investigated outcomes were observed. Moreover, patients in the high-education group were more physically active, had a better financial status, and were less likely to have hypertension, diabetes, or ACS than the participants with the least education (p<0.001; however, when those characteristics and lifestyle habits were accounted for, no moderating effects regarding the relationship of educational status with all-cause mortality and ACS events were observed. Conclusions: A U-shaped association may be proposed for the relationship between ACS prognosis and educational status, with participants in the low-education and high-education groups being negatively affected by other factors (e.g., job stress, depression, or loneliness. Public health policies should be aimed at specific social groups to reduce the overall burden of cardiovascular disease morbidity.

  5. 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 ...

  6. 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. ...

  7. Applied longitudinal analysis

    CERN Document Server

    Fitzmaurice, Garrett M; Ware, James H

    2012-01-01

    Praise for the First Edition "". . . [this book] should be on the shelf of everyone interested in . . . longitudinal data analysis.""-Journal of the American Statistical Association   Features newly developed topics and applications of the analysis of longitudinal data Applied Longitudinal Analysis, Second Edition presents modern methods for analyzing data from longitudinal studies and now features the latest state-of-the-art techniques. The book emphasizes practical, rather than theoretical, aspects of methods for the analysis of diverse types of lo

  8. 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 ...

  9. 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 -- ...

  10. 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 ...

  11. 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), ...

  12. Restoration of longitudinal images.

    Science.gov (United States)

    Hu, Y; Frieden, B R

    1988-01-15

    In this paper, a method of restoring longitudinal images is developed. By using the transfer function for longitudinal objects, and inverse filtering, a longitudinal image may be restored. The Fourier theory and sampling theorems for transverse images cannot be used directly in the longitudinal case. A modification and reasonable approximation are introduced. We have numerically established a necessary relationship between just-resolved longitudinal separation (after inverse filtering), noise level, and the taking conditions of object distance and lens diameter. An empirical formula is also found to well-fit the computed results. This formula may be of use for designing optical systems which are to image longitudinal details, such as in robotics or microscopy.

  13. A multicenter study on Leigh syndrome: Disease course and predictors of survival

    NARCIS (Netherlands)

    K. Sofou (Kalliopi); I.F.M. de Coo (René); M.K. Isohanni (Matti); M. Ostergaard; K. Naess (Karin); L. de Meirleir (Linda); C. Tzoulis (Charalampos); J. Uusimaa (Johanna); I. de Angst (Isabel); T. Lönnqvist (Tuula); H. Pihko (Helena); K. Mankinen (Katariina); L.A. Bindoff (Laurence Albert); M. Tulinius (Már); N. Darin (Niklas)

    2014-01-01

    textabstractBackground: 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

  14. The effect of resuscitation strategy on the longitudinal immuno-inflammatory response to blunt trauma

    DEFF Research Database (Denmark)

    Bonde, Alexander; Nordestgaard, Ask Tybjærg; Kirial, Rasmus

    2017-01-01

    INTRODUCTION: Resuscitation strategies following blunt trauma have been linked to immuno-inflammatory complications leading to systemic inflammatory syndrome (SIRS), sepsis and multiple organ failure (MOF). The effect of resuscitation strategy on longitudinal inflammation marker trajectories is...

  15. Dysmobility syndrome: current perspectives

    Directory of Open Access Journals (Sweden)

    Hill KD

    2017-01-01

    Full Text Available Keith D Hill,1 Kaela Farrier,1 Melissa Russell,2 Elissa Burton1 1School of Physiotherapy and Exercise Science, Faculty of Health Sciences, Curtin University, Perth, WA, Australia; 2Department of Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia Background: A new term, dysmobility syndrome, has recently been described as a new approach to identify older people at risk of poor health outcomes. The aim was to undertake a systematic review of the existing research literature on dysmobility syndrome.Method: All articles reporting dysmobility syndrome were identified in a systematic review of Medline (Proquest, CINAHL, PubMed, PsycInfo, EMBASE, and Scopus databases. Key characteristics of identified studies were extracted and summarized.Results: The systematic review identified five papers (three cross-sectional, one case control, and one longitudinal study. No intervention studies were identified. Prevalence of dysmobility syndrome varied between studies (22%–34% in three of the studies. Dysmobility syndrome was shown to be associated with reduced function, increased falls and fractures, and a longitudinal study showed its significant association with mortality.Conclusion: Early research on dysmobility syndrome indicates that it may be a useful classification approach to identify older people at risk of adverse health outcomes and to target for early interventions. Future research needs to standardize the optimal mix of measures and cut points, and investigate whether balance performance may be a more useful factor than history of falls for dysmobility syndrome. Keywords: mobility, elderly, functional decline

  16. 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...

  17. On Longitudinal Spectral Coherence

    DEFF Research Database (Denmark)

    Kristensen, Leif

    1979-01-01

    It is demonstrated that the longitudinal spectral coherence differs significantly from the transversal spectral coherence in its dependence on displacement and frequency. An expression for the longitudinal coherence is derived and it is shown how the scale of turbulence, the displacement between ...... observation sites and the turbulence intensity influence the results. The limitations of the theory are discussed....

  18. Longitudinal categorical data analysis

    CERN Document Server

    Sutradhar, Brajendra C

    2014-01-01

    This is the first book in longitudinal categorical data analysis with parametric correlation models developed based on dynamic relationships among repeated categorical responses. This book is a natural generalization of the longitudinal binary data analysis to the multinomial data setup with more than two categories. Thus, unlike the existing books on cross-sectional categorical data analysis using log linear models, this book uses multinomial probability models both in cross-sectional and longitudinal setups. A theoretical foundation is provided for the analysis of univariate multinomial responses, by developing models systematically for the cases with no covariates as well as categorical covariates, both in cross-sectional and longitudinal setups. In the longitudinal setup, both stationary and non-stationary covariates are considered. These models have also been extended to the bivariate multinomial setup along with suitable covariates. For the inferences, the book uses the generalized quasi-likelihood as w...

  19. Longitudinal myelitis associated with yellow fever vaccination.

    Science.gov (United States)

    Chaves, M; Riccio, P; Patrucco, L; Rojas, J I; Cristiano, E

    2009-07-01

    Severe adverse reaction to yellow fever (YF) vaccine includes the yellow fever vaccine-associated neurotropic disease. This terminology includes postvaccinal encephalitis, acute disseminated encephalomyelitis, and Guillain-Barré syndrome. The objective of this communication is to report a patient who received a YF vaccine in Argentina and subsequently developed longitudinal myelitis with a symptom that had previously gone unreported in the literature. A 56-year-old man began with progressive paraparesia, urinary retention, and constipation 48 h previous to admission. The patient received YF vaccine 45 days prior to the onset of the symptoms. There was no history of other immunization or relevant condition. MR of the spine showed longitudinal intramedullary hyperintense signal (D5-12) without gadolinium enhancement. A high concentration of YFV-specific IgM vaccine antibody was found in the cerebrospinal fluid (CSF). Serological tests for other flavivirus were negative. A diagnosis of longitudinal myelitis without encephalitis associated with YF vaccine was performed and symptoms improved 5 days later. This is the first report dealing with longitudinal myelitis as a serious adverse event associated with YF vaccination in which confirmation of the presence of antibodies in CSF was found. To date, it is also the first report with serological confirmation in Argentina and in South America. We consider that the present investigation will raise awareness in the region in the reporting of adverse events related to YF vaccine and improve our knowledge of adverse reactions to the vaccine.

  20. 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 ...

  1. 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 ...

  2. 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 ...

  3. 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.

  4. 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. ...

  5. Longitudinal beam dynamics

    International Nuclear Information System (INIS)

    Tecker, F

    2014-01-01

    The course gives a summary of longitudinal beam dynamics for both linear and circular accelerators. After discussing different types of acceleration methods and synchronism conditions, it focuses on the particle motion in synchrotrons

  6. 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, ...

  7. Longitudinal Changes in Segmental Aortic Stiffness Determined by Cardiac Magnetic Resonance in Children and Young Adults With Connective Tissue Disorders (the Marfan, Loeys-Dietz, and Ehlers-Danlos Syndromes, and Nonspecific Connective Tissue Disorders).

    Science.gov (United States)

    Merlocco, Anthony; Lacro, Ronald V; Gauvreau, Kimberlee; Rabideau, Nicole; Singh, Michael N; Prakash, Ashwin

    2017-10-01

    Aortic stiffness measured by cardiac magnetic resonance (CMR) in connective tissue disorder (CTD) patients has been previously shown to be abnormal and to be associated with adverse aortic outcomes. The rate of increase in aortic stiffness with normal aging has been previously described. However, longitudinal changes in aortic stiffness have not been characterized in CTD patients. We examined longitudinal changes in CMR-derived aortic stiffness in children and young adults with CTDs. A retrospective analysis of 50 children and young adults (median age, 20 years; range, 0.2 to 49; 40% age, whereas the β stiffness index increased at all aortic segments. The average rates of decline in distensibility (x10 -3  mm Hg -1 per 10-year increase in age) were 0.7, 1.3, and 1 at the AoR, ascending aorta, and descending aorta, respectively. The rates of decline in distensibility were not associated with the rates of AoR dilation or surgical AoR replacement. In conclusion, on serial CMR measurements in children and young adults with CTDs, aortic stiffness progressively increased with age, with rates of change only slightly higher than those previously reported in healthy adults. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Laugier-Hunziker Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Demet Kartal

    2011-09-01

    Full Text Available Laugier-Hunziker syndrome (LHS is a rare, acquired mucocutaneous hyperpigmentation often associated with longitudinal melanonychia. It is important to differentiate this condition from the pigmentary disorders of the oral mucosa. The correct clinical identification avoids the need for invasive investigations. A 32-year-old female presented with a number of variably sized, hyperpigmented macules over the oral mucosa and longitudinal melanonychia. Herein, we report a case of LHS and discuss the conditions related with pigmented mucocutaneous lesions.

  9. LIA longitudinal coupling impedance

    International Nuclear Information System (INIS)

    Faltens, A.

    1980-01-01

    The beam generated fields enter into the problems of waveform generation and longitudinal stability. In the former, provision must be made for the longitudinally defocusing forces due to the space charge and the beam loading effects on the accelerating voltage due to the current of a presumably known bunch. In the latter, the concern is for the growth of unintentional perturbations to unacceptably large values through the interaction of the charge and current fluctuations with the rest of the beam and the surrounding structures. These beam generated electric fields may be related to the beam current through a coupling impedance

  10. 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...

  11. Longitudinal joint specifications and performance.

    Science.gov (United States)

    2012-08-01

    Deterioration of longitudinal joints is widely recognized as one of the major factors contributing to failure of asphalt pavements. Finding : ways to improve the durability of longitudinal joints will lead to improved service lives and lower life cyc...

  12. Boerhaave syndrome - case report

    Directory of Open Access Journals (Sweden)

    Biljana Radovanovic Dinic

    Full Text Available ABSTRACT CONTEXT: Boerhaave syndrome consists of spontaneous longitudinal transmural rupture of the esophagus, usually in its distal part. It generally develops during or after persistent vomiting as a consequence of a sudden increase in intraluminal pressure in the esophagus. It is extremely rare in clinical practice. In 50% of the cases, it is manifested by Mackler's triad: vomiting, lower thoracic pain and subcutaneous emphysema. Hematemesis is an uncommon yet challenging presentation of Boerhaave's syndrome. Compared with ruptures of other parts of the digestive tract, spontaneous rupture is characterized by a higher mortality rate. CASE REPORT: This paper presents a 64-year-old female patient whose vomit was black four days before examination and became bloody on the day of the examination. Her symptoms included epigastric pain and suffocation. Physical examination showed hypotension, tachycardia, dyspnea and a swollen and painful abdomen. Auscultation showed lateral crackling sounds on inspiration. Ultrasound examination showed a distended stomach filled with fluid. Over 1000 ml of fresh blood was extracted by means of nasogastric suction. Esophagogastroduodenoscopy was discontinued immediately upon entering the proximal esophagus, where a large amount of fresh blood was observed. The patient was sent for emergency abdominal surgery, during which she died. An autopsy established a diagnosis of Boerhaave syndrome and ulceration in the duodenal bulb. CONCLUSION: Boerhaave syndrome should be considered in all cases with a combination of gastrointestinal symptoms (especially epigastric pain and vomiting and pulmonary signs and symptoms (especially suffocation.

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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, ...

  17. 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. ...

  18. 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 ...

  19. 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 ...

  20. 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

  1. 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 ...

  2. 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 ...

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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.

  8. 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 ...

  9. 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...

  10. Laugier-Hunziker syndrome: A case report.

    Science.gov (United States)

    Wei, Z; Li, G-Y; Ruan, H-H; Zhang, L; Wang, W-M; Wang, X

    2018-04-01

    Laugier-Hunziker syndrome (LHS) is a rare, benign, acquired pigmentary condition mainly affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. Herein, we reported a 45-year-old female case with LHS. The clinical, dermoscopic, histopathologic features of LHS were reviewed and the important differential diagnosis was discussed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  11. A Pluralistic, Longitudinal Method

    DEFF Research Database (Denmark)

    Evers, Winie; Marroun, Sana; Young, Louise

    2017-01-01

    There is recognition in business markets of the need for connected relationships to enable the survival and growth of firms. Finding new ways to collaborate enables firms to better seek opportunities and challenges and enhance network capability. However the traditional methods used to research...... and analysis. Longitudinal research considers a Danish advertising and communication firm looking for new ideas by involving their network in order to help them to compete in their environment of rapid globalization and emergence of new technologies. A five stage research design considered how network...

  12. A longitudinal study

    OpenAIRE

    Kristen, Astrid

    2010-01-01

    Does playing violent video games increase aggressive behavior over time or is it aggressive children who increasingly seek out (and play) these violent video games? To study such long-term effects a longitudinal design is necessary. Within a field study in a large German city (Kinder, Computer, Hobby, Lernen – KUHL, Freie Universtität Berlin) about 115 elementary school boys attending in the beginning (t1) classrooms of the third and fourth grade and twelve months later (t2) classrooms of the...

  13. Splinting of Longitudinal Fracture: An Innovative Approach

    Directory of Open Access Journals (Sweden)

    Rashmi Bansal

    2016-01-01

    Full Text Available Trauma may result in craze lines on the enamel surface, one or more fractured cusps of posterior teeth, cracked tooth syndrome, splitting of posterior teeth, and vertical fracture of root. Out of these, management of some fractures is of great challenge and such teeth are generally recommended for extraction. Literature search reveals attempts to manage such fractures by full cast crown, orthodontic wires, and so forth, in which consideration was given to extracoronal splinting only. However, due to advancement in materials and technologies, intracoronal splinting can be achieved as well. In this case report, longitudinal fractures in tooth #27, tooth #37, and tooth #46 had occurred. In #27, fracture line was running mesiodistally involving the pulpal floor resulting in a split tooth. In teeth 37 and 46, fractures of the mesiobuccal cusp and mesiolingual cusp were observed, respectively. They were restored with cast gold inlay and full cast crown, respectively. Longitudinal fracture of 27 was treated with an innovative approach using intracanal reinforced composite with Ribbond, external reinforcement with an orthodontic band, and full cast metal crown to splint the split tooth.

  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. Bunched beam longitudinal stability

    International Nuclear Information System (INIS)

    Baartman, R.

    1991-05-01

    Instabilities driven by narrow-band impedances can be stabilized by Landau damping arising from the synchrotron frequency spread due to the nonlinearity of the rf wave-form. We calculate stability diagrams for various phase space distributions. We find that distributions without tails are unstable in the 'negative mass' regime (inductive impedance below transition or capacitive impedance above transition). We also find that longitudinal instability thresholds of the (usually neglected) higher order radial modes are lower than expected. For example, the next to lowest dipole mode has a lower threshold than the lowest sextupole mode even though the latter has the larger growth rate in the absence of Landau damping. (Author) 5 refs., 5 figs

  3. LEIR longitudinal studies

    CERN Document Server

    Albright, S; Hancock, S

    2017-01-01

    Towards the end of 2015 and during 2016 there were exten-sive studies of longitudinal beam dynamics in LEIR aimedat improving extracted intensities. As the driving source oflosses early in the ramp was shown to be transverse spacecharge tune spread a significant improvement came fromflattening the beam profile to increase the bunching factorby offsetting the RF frequency from the beam revolution fre-quency. Further benefits were provided by modulating theRF frequency during capture, leading to emittance blow-upand improved reproducibility. The use of two RF cavitiesduring operation was studied to try and further increase thecaptured emittance, however after careful alignment of theRF it was found that a hard limit in the bunch heigh of approx-imately 7 MeV exists. Due to the acceptance limit there wasno operational benefit to using both cavities simultaneously

  4. Fundamentals - longitudinal motion

    International Nuclear Information System (INIS)

    Weng, W.T.

    1989-01-01

    There are many ways to accelerate charged particles to high energy for physics research. Each has served its purpose but eventually has encountered fundamental limitations of one kind or another. Looking at the famous Livingston curve, the initial birth and final level-off of all types of accelerators is seen. In fact, in the mid-80s we personally witnessed the creation of a new type of collider - the Stanford Linear Collider. Also witnessed, was the resurgence of study into novel methods of acceleration. This paper will cover acceleration and longitudinal motion in a synchrotron. A synchrotron is a circular accelerator with the following three characteristics: (1) Magnetic guiding (dipole) and confinement (quadrupole) components are placed in a small neighborhood around the equilibrium orbit. (2) Particles are kept in resonance with the radio-frequency electric field indefinitely to achieve acceleration to higher energies. (3) Magnetic fields are varied adiabatically with the energy of the particle. D. Edwards described the transverse oscillations of particles in a synchrotron. Here the author talks about the longitudinal oscillations of particles. The phase stability principle was invented by V. Veksler and E. McMillan independently in 1945. The phase stability and strong focusing principle, invented by Courant and Livingston in 1952, enabled the steady energy gain of accelerators and storage rings witnessed during the past 30 years. This paper is a unified overview of the related rf subjects in an accelerator and a close coupling between accelerator physics and engineering practices, which is essential for the major progress in areas such as high intensity synchrotrons, a multistage accelerator complex, and anti-proton production and cooling, made possible in the past 20 years

  5. Loading Conditions and Longitudinal Strength

    DEFF Research Database (Denmark)

    Sørensen, Herman

    1995-01-01

    Methods for the calculation of the lightweight of the ship.Loading conditions satisfying draught, trim and intact stability requirements and analysis of the corresponding stillwater longitudinal strength.......Methods for the calculation of the lightweight of the ship.Loading conditions satisfying draught, trim and intact stability requirements and analysis of the corresponding stillwater longitudinal strength....

  6. 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...

  7. 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...

  8. 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 ...

  9. 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, ...

  10. 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...

  11. 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.

  12. 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....

  13. 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...

  14. 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.

  15. "Nine" syndrome: A new neuro-ophthalmologic syndrome: Report of two cases

    Directory of Open Access Journals (Sweden)

    Rohan R Mahale

    2015-01-01

    Full Text Available "Eight-and-a-half" syndrome is a rare condition involving the ipsilateral abducens nucleus or paramedian pontine reticular formation (PPRF, the ipsilateral medial longitudinal fasciculus (MLF, and the adjacent facial colliculus/facial nerve fascicle. The condition is often caused by a lesion (vascular or demyelinating in the dorsal tegmentum of the caudal pons. There are new variants of this syndrome caused by extension of lesion to involve new adjacent structures in pontine tegmentum. We report two patients with different etiology presenting with clinical features suggestive of eight-and-a-half syndrome associated with hemiataxia representing "nine" syndrome (8– + – = 9 adding new dimension to "eight-and-a-half" syndrome.

  16. 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

  17. Longitudinal Research with Latent Variables

    CERN Document Server

    van Montfort, Kees; Satorra, Albert

    2010-01-01

    This book combines longitudinal research and latent variable research, i.e. it explains how longitudinal studies with objectives formulated in terms of latent variables should be carried out, with an emphasis on detailing how the methods are applied. Because longitudinal research with latent variables currently utilizes different approaches with different histories, different types of research questions, and different computer programs to perform the analysis, the book is divided into nine chapters. Starting from some background information about the specific approach, short history and the ma

  18. 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.

  19. 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.

  20. 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.

  1. Longitudinal Analysis of Academic Burnout in Korean Middle School Students.

    Science.gov (United States)

    Kim, Boyoung; Lee, Minyoung; Kim, Keunhwa; Choi, Hyunju; Lee, Sang Min

    2015-10-01

    The purpose of the study was to investigate the longitudinal relationships between the initial values and slopes of three dimensions of burnout syndrome (i.e. emotional exhaustion, cynicism and academic inefficacy). The study utilized four-wave longitudinal data from a total of 367 (81.6% response rate) middle school students in South Korea. Comprising a 6-month interval survey, the first survey was conducted in June 2010, the second in December 2010, the third in June 2011 and the fourth in December 2011. All participants were 13-year-olds at the first and second surveys, and 14-year-olds at the third and fourth surveys. The Maslach Burnout Inventory-Student Survey was used for each survey to assess the level of academic burnout. The longitudinal data were analysed using latent growth modelling. The results of the study indicated that high initial values (intercept) for emotional exhaustion were associated with a higher rate of increase (slope) in cynicism and academic inefficacy. On the other hand, high initial values for cynicism and academic inefficacy were associated with a lower rate of increase in the other dimensions. This longitudinal study should promote understanding of burned-out students and contribute to the literature by informing the design of prevention programmes for academic burnout. Copyright © 2014 John Wiley & Sons, Ltd.

  2. 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? ...

  3. 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 ...

  4. 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 ...

  5. [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.

  6. 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...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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 ...

  16. 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...

  17. 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 ...

  18. 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 ...

  19. 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 ...

  20. 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. " ...

  1. 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 ...

  2. 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: ...

  3. 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...

  4. 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...

  5. 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)

  6. [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.

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

    Science.gov (United States)

    Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

    2016-01-01

    In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

  13. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

  14. 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.

  15. 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 ...

  16. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort.

    Science.gov (United States)

    Mathews, Carol A; Scharf, Jeremiah M; Miller, Laura L; Macdonald-Wallis, Corrie; Lawlor, Debbie A; Ben-Shlomo, Yoav

    2014-01-01

    Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors.

  17. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort†

    Science.gov (United States)

    Mathews, Carol A.; Scharf, Jeremiah M.; Miller, Laura L.; Macdonald-Wallis, Corrie; Lawlor, Debbie A.; Ben-Shlomo, Yoav

    2014-01-01

    Background Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. Aims To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Method Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Results Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. Conclusions This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors. PMID:24262815

  18. 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

  19. 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.

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. 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)

  5. 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.

  6. 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.

  7. 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

  8. 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

  9. 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

  10. 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.

  11. 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. 

  12. 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

  13. 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.

  14. 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)

  15. [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.

  16. Summary of longitudinal instabilities workshop

    Energy Technology Data Exchange (ETDEWEB)

    Chasman, R.

    1976-01-01

    A five-day ISABELLE workshop on longitudinal instabilities was held at Brookhaven, August 9-13, 1976. About a dozen outside accelerator experts, both from Europe and the U.S.A., joined the local staff for discussions of longitudinal instabilities in ISABELLE. An agenda of talks was scheduled for the first day of the workshop. Later during the week, a presentation was given on the subject ''A more rigorous treatment of Landau damping in longitudinal beam instabilities''. A few progress meetings were held in which disagreements regarding calculations of coupling impedances were clarified. A summary session was held on the last day. Heavy emphasis was put on single bunched beam instabilities in the microwave region extending above the cut-off frequency of the ISABELLE vacuum chamber.

  17. “Sixteen and a half”: a rare neurological syndrome

    Directory of Open Access Journals (Sweden)

    Chetan Chaudhari

    2012-07-01

    Full Text Available "Sixteen and a half" syndrome is a recently coined terminology for a novel pontine neuro-ophthalmological condition. It is characterised by "one and a half" syndrome with an additional ipsilateral seventh and eighth cranial nerve palsy (1½+7+8=16½. We hereby present a case with "sixteen and a half" syndrome, characterised by facial asymmetry, conjugate gaze palsy and unilateral deafness with vertigo. As demonstrated by magnetic resonance imaging, the responsible pontine lesion was a brainstem tuberculoma involving the ipsilateral abducens nucleus and the adjacent medial longitudinal fasciculus (MLF, along with facial and vestibulocochlear nerve. The location of the tuberculoma and the clinical presentation is unusual.

  18. Longitudinal dynamics in storage rings

    International Nuclear Information System (INIS)

    Colton, E.P.

    1986-01-01

    The single-particle equations of motion are derived for charged particles in a storage ring. Longitudinal space charge is included in the potential assuming an infinitely conducting circular beam pipe with a distributed inductance. The framework uses Hamilton's equations with the canonical variables phi and W. The Twiss parameters for longitudinal motion are also defined for the small amplitude synchrotron oscillations. The space-charge Hamiltonian is calculated for both parabolic bunches and ''matched'' bunches. A brief analysis including second-harmonic rf contributions is also given. The final sections supply calculations of dynamical quantities and particle simulations with the space-charge effects neglected

  19. Longitudinal single-bunch instabilities

    International Nuclear Information System (INIS)

    Migliorati, M.; Palumbo, L.; Rome Univ. La Sapienza, Rome

    2001-02-01

    After introducing the concepts of longitudinal wakefield and coupling impedance, it is reviewed the theory of longitudinal single-bunch collective effects in storage rings. From the Fokker-Planck equation it is first derived the stationary solution describing the natural single-bunch regime, and then treat the problem of microwave instability, showing the different approaches used for estimating the threshold current. The lecture is ended with the semi-empirical laws that allow everyone to obtain the single-bunch behaviour above threshold, and with a description of the simulation codes that are now reliable tools for investigating all these effects

  20. Passive longitudinal phase space linearizer

    Directory of Open Access Journals (Sweden)

    P. Craievich

    2010-03-01

    Full Text Available We report on the possibility to passively linearize the bunch compression process in electron linacs for the next generation x-ray free electron lasers. This can be done by using the monopole wakefields in a dielectric-lined waveguide. The optimum longitudinal voltage loss over the length of the bunch is calculated in order to compensate both the second-order rf time curvature and the second-order momentum compaction terms. Thus, the longitudinal phase space after the compression process is linearized up to a fourth-order term introduced by the convolution between the bunch and the monopole wake function.

  1. Longitudinal feedback system for PEP

    International Nuclear Information System (INIS)

    Allen, M.A.; Cornacchia, M.; Millich, A.

    1979-02-01

    Whether the wide bandwidth longitudinal feedback system described in this paper is made to act on the individual modes in frequency domain or on the individual bunches in time domain, it represents a clean and efficient way of damping the longitudinal oscillations without influencing other beam parameters such as bunch shape or synchrotron frequency distribution. The frequency domain feedback presents the advantage of providing information on which modes are unstable and on their risetimes, which may be helpful in locating dangerous resonators in the ring

  2. The phenotype of polycystic ovary syndrome ameliorates with aging

    NARCIS (Netherlands)

    Brown, Zoe A.; Louwers, Yvonne V.; Fong, Sharon Lie; Valkenburg, Olivier; Birnie, Erwin; de Jong, Frank H.; Fauser, Bart C. J. M.; Laven, Joop S. E.

    2011-01-01

    Objective: To assess the effects of aging on the features of polycystic ovary syndrome (PCOS). Design: Retrospective longitudinal follow-up study. Setting: Tertiary care center. Patient(s): Patients with PCOS, diagnosed according to the 2003 Rotterdam criteria, who visited the outpatient clinic on

  3. Noncomprehension Signaling in Males and Females with Fragile X Syndrome

    Science.gov (United States)

    Thurman, Angela John; Kover, Sara T.; Brown, W. Ted; Harvey, Danielle J.; Abbeduto, Leonard

    2017-01-01

    Purpose: This study used a prospective longitudinal design to evaluate the trajectory and predictors of noncomprehension signaling in male and female youth with fragile X syndrome (FXS). Method: A direction-following task in which some of the directions were inadequate was administered. Participants were 52 youth (36 boys, 16 girls) with FXS. Upon…

  4. Phonological Awareness and Reading in Boys with Fragile X Syndrome

    Science.gov (United States)

    Adlof, Suzanne M.; Klusek, Jessica; Shinkareva, Svetlana V.; Robinson, Marissa L.; Roberts, Jane E.

    2015-01-01

    Background: Reading delays are well documented in children with fragile X syndrome (FXS), but few studies have examined linguistic precursors of reading in this population. This study examined the longitudinal development of phonological awareness and its relationship with basic reading in boys with FXS. Individual differences in genetic,…

  5. 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.

  6. Developmental dyscalculia: a dysconnection syndrome?

    Science.gov (United States)

    Kucian, Karin; Ashkenazi, Simone Schwizer; Hänggi, Jürgen; Rotzer, Stephanie; Jäncke, Lutz; Martin, Ernst; von Aster, Michael

    2014-09-01

    Numerical understanding is important for everyday life. For children with developmental dyscalculia (DD), numbers and magnitudes present profound problems which are thought to be based upon neuronal impairments of key regions for numerical understanding. The aim of the present study was to investigate possible differences in white matter fibre integrity between children with DD and controls using diffusion tensor imaging. White matter integrity and behavioural measures were evaluated in 15 children with developmental dyscalculia aged around 10 years and 15 matched controls. The main finding, obtained by a whole brain group comparison, revealed reduced fractional anisotropy in the superior longitudinal fasciculus in children with developmental dyscalculia. In addition, a region of interest analysis exhibited prominent deficits in fibres of the superior longitudinal fasciculus adjacent to the intraparietal sulcus, which is thought to be the core region for number processing. To conclude, our results outline deficient fibre projection between parietal, temporal and frontal regions in children with developmental dyscalculia, and therefore raise the question of whether dyscalculia can be seen as a dysconnection syndrome. Since the superior longitudinal fasciculus is involved in the integration and control of distributed brain processes, the present results highlight the importance of considering broader domain-general mechanisms in the diagnosis and therapy of dyscalculia.

  7. 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...

  8. 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

  9. 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. ...

  10. 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.

  11. 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 ...

  12. 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)

  13. 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.

  14. 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.

  15. 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.…

  16. 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 ...

  17. 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 ...

  18. 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.

  19. 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

  20. 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

  1. 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. ...

  2. 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, ...

  3. Longitudinal bulk acoustic mass sensor

    DEFF Research Database (Denmark)

    Hales, Jan Harry; Teva, Jordi; Boisen, Anja

    2009-01-01

    A polycrystalline silicon longitudinal bulk acoustic cantilever is fabricated and operated in air at 51 MHz. A mass sensitivity of 100 Hz/fg (1 fg=10(-15) g) is obtained from the preliminary experiments where a minute mass is deposited on the device by means of focused ion beam. The total noise...

  4. Correspondence analysis of longitudinal data

    NARCIS (Netherlands)

    Van der Heijden, P.G.M.|info:eu-repo/dai/nl/073087998

    2005-01-01

    Correspondence analysis is an exploratory tool for the analysis of associations between categorical variables, the results of which may be displayed graphically. For longitudinal data with two time points, an analysis of the transition matrix (showing the relative frequencies for pairs of

  5. Longitudinal heritability of childhood aggression

    NARCIS (Netherlands)

    Porsch, R.M.P.; Middeldorp, C.M.; Cherny, S.S.; Krapohl, E.; van Beijsterveldt, C.E.M.; Loukola, A.; Korhonen, T.; Pulkkinen, L.; Corley, R.P.; Rhee, S.; Kaprio, J.; Rose, R.; Hewitt, J.K.; Sham, P.; Plomin, R.; Boomsma, D.I.; Bartels, M.

    2016-01-01

    The genetic and environmental contributions to the variation and longitudinal stability in childhood aggressive behavior were assessed in two large twin cohorts, the Netherlands Twin Register (NTR), and the Twins Early Development Study (TEDS; United Kingdom). In NTR, maternal ratings on aggression

  6. [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.

  7. 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

  8. 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+.

  9. 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.

  10. 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.

  11. 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 ...

  12. 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.

  13. 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.

  14. 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 ...

  15. [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.

  16. 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.

  17. 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 ...

  18. 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- ...

  19. 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 ...

  20. 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 ...

  1. Metabolic Syndrome and 16-year Cognitive Decline in Community-Dwelling Older Adults

    Science.gov (United States)

    McEvoy, Linda K.; Laughlin, Gail A.; Barrett-Connor, Elizabeth; Bergstrom, Jaclyn; Kritz-Silverstein, Donna; Der-Martirosian, Claudia; von Mühlen, Denise

    2012-01-01

    PURPOSE To determine whether metabolic syndrome is associated with accelerated cognitive decline in community-dwelling older adults. METHODS Longitudinal study of 993 adults (mean 66.8 ± 8.7 years) from the Rancho Bernardo Study. Metabolic syndrome components, defined by 2001 NCEP-ATP III criteria, were measured in 1984–87. Cognitive function was first assessed in 1988–92. Cognitive assessments were repeated approximately every four years, for a maximum 16-year follow-up. Mixed-effects models examined longitudinal rate of cognitive decline by metabolic syndrome status, controlling for factors plausibly associated with cognitive function (diabetes, inflammation). RESULTS Metabolic syndrome was more common in men than women (14% vs. 9%, p=0.01). In women, metabolic syndrome was associated with greater executive function and long term memory decline. These associations did not differ by inflammatory biomarker levels. Diabetes did not alter the association of metabolic syndrome with long-term recall but modified the association with executive function: metabolic syndrome was associated with accelerated executive function decline in diabetic women only. Metabolic syndrome was not related to rate of decline on any cognitive measure in men. CONCLUSIONS Metabolic syndrome was a risk factor for accelerated cognitive decline, but only in women. Prevention of metabolic syndrome may aid in maintenance of cognitive function with age. PMID:22285865

  2. 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 ...

  3. 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. ...

  4. Single bunch fast longitudinal instability

    International Nuclear Information System (INIS)

    Wang, J.M.; Pellegrini, C.

    1979-01-01

    Single bunch longitudinal instability producing an increase of the bunch area have been observed in proton synchrotron and storage rings. Signals at microwave frequencies are observed during the bunch blow-up and because of this the effect has been called the microwave instability. A similar increase in bunch area is observed also in electron storage rings, where it is usually referred to as the bunch lengthening effect. This paper is an attempt to obtain a more general theory of this effect. Here we describe the model used and the method of calculation, together with some general results. More detailed results will be given in another paper. The main result is the derivation of a condition for the existence of a fast longitudinal bunch blow-up. This condition is a generalized threshold formula, showing explicitly the dependence on the bunch energy spread and length. This condition is qualitatively in agreement with Boussard's suggestion

  5. Single bunch fast longitudinal instability

    International Nuclear Information System (INIS)

    Wang, J.M.; Pellegrini, C.

    1979-01-01

    Single bunch longitudinal instability producing an increase of the bunch areas has been observed in proton synchrotron and storage rings. Singals at microwave frequencies are observed during the bunch blow-up and because of this the effect has been called the microwave instability. A similar increase in bunch area is observed also in electron storage rings, where it is usually referred to as the bunch lengthening effect. This paper is an attempt to obtain a more general theory of this effect. Here we describe the model used and the method of calculation, together with some general results. The main result of this paper is the derivation of a condition for the existence of a fast longitudinal bunch blow-up. This condition is a generalized threshold formula, showing explicitly the dependence on the bunch energy spread and length

  6. 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 ...

  7. Parameterized Linear Longitudinal Airship Model

    Science.gov (United States)

    Kulczycki, Eric; Elfes, Alberto; Bayard, David; Quadrelli, Marco; Johnson, Joseph

    2010-01-01

    A parameterized linear mathematical model of the longitudinal dynamics of an airship is undergoing development. This model is intended to be used in designing control systems for future airships that would operate in the atmospheres of Earth and remote planets. Heretofore, the development of linearized models of the longitudinal dynamics of airships has been costly in that it has been necessary to perform extensive flight testing and to use system-identification techniques to construct models that fit the flight-test data. The present model is a generic one that can be relatively easily specialized to approximate the dynamics of specific airships at specific operating points, without need for further system identification, and with significantly less flight testing. The approach taken in the present development is to merge the linearized dynamical equations of an airship with techniques for estimation of aircraft stability derivatives, and to thereby make it possible to construct a linearized dynamical model of the longitudinal dynamics of a specific airship from geometric and aerodynamic data pertaining to that airship. (It is also planned to develop a model of the lateral dynamics by use of the same methods.) All of the aerodynamic data needed to construct the model of a specific airship can be obtained from wind-tunnel testing and computational fluid dynamics

  8. Bayesian Nonparametric Longitudinal Data Analysis.

    Science.gov (United States)

    Quintana, Fernando A; Johnson, Wesley O; Waetjen, Elaine; Gold, Ellen

    2016-01-01

    Practical Bayesian nonparametric methods have been developed across a wide variety of contexts. Here, we develop a novel statistical model that generalizes standard mixed models for longitudinal data that include flexible mean functions as well as combined compound symmetry (CS) and autoregressive (AR) covariance structures. AR structure is often specified through the use of a Gaussian process (GP) with covariance functions that allow longitudinal data to be more correlated if they are observed closer in time than if they are observed farther apart. We allow for AR structure by considering a broader class of models that incorporates a Dirichlet Process Mixture (DPM) over the covariance parameters of the GP. We are able to take advantage of modern Bayesian statistical methods in making full predictive inferences and about characteristics of longitudinal profiles and their differences across covariate combinations. We also take advantage of the generality of our model, which provides for estimation of a variety of covariance structures. We observe that models that fail to incorporate CS or AR structure can result in very poor estimation of a covariance or correlation matrix. In our illustration using hormone data observed on women through the menopausal transition, biology dictates the use of a generalized family of sigmoid functions as a model for time trends across subpopulation categories.

  9. A study of the HEB longitudinal dynamics

    International Nuclear Information System (INIS)

    Larson, D.J.

    1993-12-01

    A study of the High Energy Booster (HEB) longitudinal dynamics is presented. Full derivations of ramp dependent longitudinal variables are given. The formulas assume that the input magnetic field and beam longitudinal emittance are known as a function of time, and that either the rf voltage or the rf bucket area are known as a function of time. Once these three inputs are specified, the formulas can be used to calculate values for all other longitudinal dynamics variables. The formulas have been incorporated into a single computer code named ELVIRA: Evaluation of Longitudinal Variables in Relativistic Accelerators. The ELVIRA code is documented here in detail. The ELVIRA code is used under two initial longitudinal emittance assumptions to plot ramp functions for the longitudinal dynamics design of the HEB as of May 5, 1992

  10. Hearing impairment in genotyped Wolfram syndrome patients.

    Science.gov (United States)

    Plantinga, Rutger F; Pennings, Ronald J E; Huygen, Patrick L M; Bruno, Rocco; Eller, Philipp; Barrett, Timothy G; Vialettes, Bernard; Paquis-Fluklinger, Veronique; Lombardo, Fortunato; Cremers, Cor W R J

    2008-07-01

    Wolfram syndrome is a progressive neurodegenerative syndrome characterized by the features "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We sought to study the audiometric data of genotyped Wolfram syndrome patients with sensorineural hearing impairment. Pure tone threshold data of 23 Wolfram syndrome patients were used for cross-sectional analysis in subgroups (age less than 16 years or between 19 and 25 years, gender, and origin). All subgroups, with 1 exception, showed a fairly similar type of hearing impairment with, on average, thresholds of about 25 dB (range, 0 to 65 dB) at 0.25 to 1 kHz, gently sloping downward to about 60 dB (range, 25 to 95 dB) at 8 kHz. The subgroup of Dutch women, which was excluded from the calculations of the average hearing thresholds, showed a higher degree of hearing impairment. Only the latter subgroup showed progression; however, contrary to the previous longitudinal analysis, progression was not significant in the present cross-sectional analysis, presumably because of the high degree of cross-subject variability. This unique collection of audiometric data from genotyped Wolfram syndrome patients shows no substantial progression in sensorineural hearing impairment with advancing age, no relation to the types of WFS1 mutations identified, and, with exclusion of the subgroup of Dutch female patients, no significant sex-related differences.

  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. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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

  2. 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 (

  3. 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 ...

  4. 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

  5. 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 ...

  6. The effects of work organization on the health of immigrant manual workers: A longitudinal analysis.

    Science.gov (United States)

    Arcury, Thomas A; Chen, Haiying; Mora, Dana C; Walker, Francis O; Cartwright, Michael S; Quandt, Sara A

    2016-01-01

    This analysis uses a longitudinal design to examine the associations of work organization and health outcomes among Latino manual workers. Participants included 247 Latino workers who completed baseline and 1-year follow-up interviews and clinical examinations. Health outcome measures were epicondylitis, rotator cuff syndrome, back pain, and depressive symptoms. Independent measures were measures of job demand, job control, and job support. Workers commonly experienced rotator cuff syndrome (6.5%), back pain (8.9%), and depressive symptoms (11.2%); fewer experienced epicondylitis (2.4%). Psychological demand was associated with rotator cuff syndrome; awkward position and decision latitude were associated with back pain. Decreased skill variety but increased decision latitude was associated with elevated depressive symptoms. Work context factors are important for health outcomes among vulnerable workers. Further research is needed to expand upon this work, particularly cultural perspectives on job support.

  7. Longitudinal tune control in synchrotrons

    International Nuclear Information System (INIS)

    Colton, E.P.

    1984-01-01

    Dual rf systems that use fundamental and higher-harmonic cavities can be used to control the longitudinal tune in synchrotrons. The equations of motion and the Hamiltonian are defined for particle motion using dual rf systems. An example is considered using a second-harmonic system - it is shown, that as phi/sub s/ is increased, a substantial gain in bucket area over a single rf system can be realized by proper relative phasing of the first- and second-harmonic voltages

  8. 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.

  9. 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.

  10. Exploring Longitudinal Risk-return Relationships

    DEFF Research Database (Denmark)

    Andersen, Torben J.; Bettis, Richard A.

    2015-01-01

    We study a longitudinal fit model of adaptation and its association with the longitudinal risk-return relationship. The model allows the firm to adjust its position in response to partial learning about a changing environment characterized by two path-dependent processes—a random walk and a stoch......We study a longitudinal fit model of adaptation and its association with the longitudinal risk-return relationship. The model allows the firm to adjust its position in response to partial learning about a changing environment characterized by two path-dependent processes—a random walk...... can lead to the inverse longitudinal risk-return relationships observed empirically. We discuss this apparent paradox and the possible resolution between mindless and conscious behavior as plausible causes of the longitudinal Bowman Paradox....

  11. Longitudinal patterns of semantic and episodic memory in frontotemporal lobar degeneration and Alzheimer's disease.

    Science.gov (United States)

    Xie, Sharon X; Libon, David J; Wang, Xingmei; Massimo, Lauren; Moore, Peachie; Vesely, Luisa; Khan, Alea; Chatterjee, Anjan; Coslett, H Branch; Hurtig, Howard I; Liang, Tsao-Wei; Grossman, Murray

    2010-03-01

    The longitudinal assessment of episodic and semantic memory was obtained from 236 patients diagnosed with Alzheimer's disease (AD, n = 128) and with frontotemporal lobar degeneration (FTLD, n = 108), including patients with a social comportment/dysexecutive (SOC/EXEC) disorder, progressive nonfluent aphasia (PNFA), semantic dementia (SemD), and corticobasal syndrome (CBS). At the initial assessment, AD patients obtained a lower score on the delayed free recall test than other patients. Longitudinal analyses for delayed free recall found converging performance, with all patients reaching the same level of impairment as AD patients. On the initial evaluation for delayed recognition, AD patients also obtained lower scores than other groups. Longitudinal analyses for delayed recognition test performance found that AD patients consistently produced lower scores than other groups and no convergence between AD and other dementia groups was seen. For semantic memory, there were no initial between-group differences. However, longitudinal analyses for semantic memory revealed group differences over illness duration, with worse performance for SemD versus AD, PNFA, SOC/EXEC, and CBS patients. These data suggest the presence of specific longitudinal patterns of impairment for episodic and semantic memory in AD and FTLD patients suggesting that all forms of dementia do not necessarily converge into a single phenotype.

  12. [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.

  13. 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.

  14. 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.

  15. Longitudinal study of fingerprint recognition.

    Science.gov (United States)

    Yoon, Soweon; Jain, Anil K

    2015-07-14

    Human identification by fingerprints is based on the fundamental premise that ridge patterns from distinct fingers are different (uniqueness) and a fingerprint pattern does not change over time (persistence). Although the uniqueness of fingerprints has been investigated by developing statistical models to estimate the probability of error in comparing two random samples of fingerprints, the persistence of fingerprints has remained a general belief based on only a few case studies. In this study, fingerprint match (similarity) scores are analyzed by multilevel statistical models with covariates such as time interval between two fingerprints in comparison, subject's age, and fingerprint image quality. Longitudinal fingerprint records of 15,597 subjects are sampled from an operational fingerprint database such that each individual has at least five 10-print records over a minimum time span of 5 y. In regard to the persistence of fingerprints, the longitudinal analysis on a single (right index) finger demonstrates that (i) genuine match scores tend to significantly decrease when time interval between two fingerprints in comparison increases, whereas the change in impostor match scores is negligible; and (ii) fingerprint recognition accuracy at operational settings, nevertheless, tends to be stable as the time interval increases up to 12 y, the maximum time span in the dataset. However, the uncertainty of temporal stability of fingerprint recognition accuracy becomes substantially large if either of the two fingerprints being compared is of poor quality. The conclusions drawn from 10-finger fusion analysis coincide with the conclusions from single-finger analysis.

  16. Longitudinal Space Charge in the SPS

    CERN Document Server

    Lasheen, Alexandre

    2016-01-01

    Longitudinal instabilities due to the SPS beam coupling impedance are a major issue for future projects and it is essential to have an accurate SPS impedance model to study them. The longitudinal space charge effect can be modelled by a pure reactive impedance and should also be included in simulations as it may have an impact at low energy. In this Note, the effect of the longitudinal space charge in the SPS is evaluated by taking into account the variation of the transverse beam size and vacuum chamber geometry along the ring. Scaling laws are used to investigate what are the most important parameters for the evaluation of the longitudinal space charge impedance.

  17. 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.

  18. 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.

  19. 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.

  20. Asperger Syndrome In Adulthood: A Review

    Directory of Open Access Journals (Sweden)

    Ali Tufan

    2011-09-01

    Full Text Available Asperger’s syndrome (AS is one of the disorders classified under pervasive developmental disorders. Individuals with AS have problems in social interaction, unusual special interests, and a tendency to ritualized behavior. AS is a chronic disorder that affects the social, occupational, sexual and psychological functionality of individiuals with AS. This review was prepared on the basis of a selective literature review by Pubmed and information in relevant reference books. As a result, longitudinal studies are deemed to be necessary to be able understand the features of AS in adulthood.

  1. Yellow Nail Syndrome - a Case Report

    Directory of Open Access Journals (Sweden)

    Paravina Mirjana

    2015-06-01

    Full Text Available Yellow nail syndrome is a rare disease of unknown etiology. It is clinically characterized by a triad of yellow nails, lymphedema at one or more sites, and chronic respiratory disease (bronchitis, bronchiectasis and rhinosinusitis. All nails may be affected, but some may be spared. The nail plates are yellowish green, thickened, occasionally with transverse ridging and onycholysis, with increased longitudinal and transversal over-curvature, with partial or complete separation of the nail plate from the nail bed, without lunula and cuticle and slow nail growth rate. The lymphedema is usually peripheral, affecting the lower limbs, or in the form of pleural effusion.

  2. Twiddler's syndrome in a patient with CRT-D device – A case report

    Directory of Open Access Journals (Sweden)

    Dheeraj D. Bhatt

    2015-11-01

    Full Text Available Twiddler's syndrome is a rare cause of pacemaker lead dislodgement. A 61-year-old female patient was implanted with a defibrillator capable of cardiac re-synchronization therapy (CRT-D; 10 months later, she presented with uneasiness and vibratory sensations in the chest. Fluoroscopy revealed rotation of the pulse generator along its longitudinal axis and dislodgement of all three leads. Diagnosis of Twiddler's syndrome was made.

  3. Laugier–Hunziker syndrome: a report of three cases and literature review

    Science.gov (United States)

    Wang, Wen-Mei; Wang, Xiang; Duan, Ning; Jiang, Hong-Liu; Huang, Xiao-Feng

    2012-01-01

    Laugier–Hunziker syndrome (LHS) is an acquired pigmentary condition affecting lips, oral mucosa and acral area, frequently associated with longitudinal melanonychia. There is neither malignant predisposition nor underlying systemic abnormality associated with LHS. Herein, we present three uncommon cases of LHS with possibly new feature of nail pigmentation, which were diagnosed during the past 2 years. We also review the clinical and histological findings, differential diagnosis, and treatment of the syndrome in published literature. PMID:23174847

  4. 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.

  5. Introduction to Longitudinal Beam Dynamics

    International Nuclear Information System (INIS)

    Holzer, B J

    2014-01-01

    This chapter gives an overview of the longitudinal dynamics of the particles in an accelerator and, closely related to that, the issue of synchronization between the particles and the accelerating field. Beginning with the trivial case of electrostatic accelerators, the synchronization condition is explained for a number of driven accelerators like Alvarez linacs, cyclotrons and finally synchrotrons and storage rings, where it plays a crucial role. In the case of the latter, the principle of phase focusing is motivated qualitatively as well as on a mathematically more correct level and the problem of operation below and above the transition energy is discussed. Throughout, the main emphasis is more on physical understanding rather than on a mathematically rigorous treatment

  6. Introduction to Longitudinal Beam Dynamics

    CERN Document Server

    Holzer, B J

    2014-01-01

    This chapter gives an overview of the longitudinal dynamics of the particles in an accelerator and, closely related to that, the issue of synchronization between the particles and the accelerating field. Beginning with the trivial case of electrostatic accelerators, the synchronization condition is explained for a number of driven accelerators like Alvarez linacs, cyclotrons and finally synchrotrons and storage rings, where it plays a crucial role. In the case of the latter, the principle of phase focusing is motivated qualitatively as well as on a mathematically more correct level and the problem of operation below and above the transition energy is discussed. Throughout, the main emphasis is more on physical understanding rather than on a mathematically rigorous treatment.

  7. Introduction to Longitudinal Beam Dynamics

    Energy Technology Data Exchange (ETDEWEB)

    Holzer, B J [European Organization for Nuclear Research, Geneva (Switzerland)

    2014-07-01

    This chapter gives an overview of the longitudinal dynamics of the particles in an accelerator and, closely related to that, the issue of synchronization between the particles and the accelerating field. Beginning with the trivial case of electrostatic accelerators, the synchronization condition is explained for a number of driven accelerators like Alvarez linacs, cyclotrons and finally synchrotrons and storage rings, where it plays a crucial role. In the case of the latter, the principle of phase focusing is motivated qualitatively as well as on a mathematically more correct level and the problem of operation below and above the transition energy is discussed. Throughout, the main emphasis is more on physical understanding rather than on a mathematically rigorous treatment.

  8. 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

  9. 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.

  10. College Women's Female Friendships: A Longitudinal View

    Science.gov (United States)

    Aleman, Ana M. Martinez

    2010-01-01

    This article presents a longitudinal qualitative study of the cognitive value of female friendships formed in college and seeks to appraise the meaning of the phenomenon for the participants. To grasp the temporal effects of the longitudinal data in this study, the author examines and assesses the relevant developmental literature, particularly…

  11. Total Survey Error for Longitudinal Surveys

    NARCIS (Netherlands)

    Lynn, Peter; Lugtig, P.J.

    2016-01-01

    This article describes the application of the total survey error paradigm to longitudinal surveys. Several aspects of survey error, and of the interactions between different types of error, are distinct in the longitudinal survey context. Furthermore, error trade-off decisions in survey design and

  12. 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

  13. 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.

  14. 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.

  15. Prospective longitudinal evaluation of lung function during the first year of life after extracorporeal membrane oxygenation.

    Science.gov (United States)

    Hofhuis, Ward; Hanekamp, Manon N; Ijsselstijn, Hanneke; Nieuwhof, Eveline M; Hop, Wim C J; Tibboel, Dick; de Jongste, Johan C; Merkus, Peter J F M

    2011-03-01

    To collect longitudinal data on lung function in the first year of life after extracorporeal membrane oxygenation and to evaluate relationships between lung function and perinatal factors. Longitudinal data on lung function in the first year of life after extracorporeal membrane oxygenation are lacking. Prospective longitudinal cohort study. Outpatient clinic of a tertiary level pediatric hospital. The cohort consisted of 64 infants; 33 received extracorporeal membrane oxygenation for meconium aspiration syndrome, 14 for congenital diaphragmatic hernia, four for sepsis, six for persistent pulmonary hypertension of the neonate, and seven for respiratory distress syndrome of infancy. Evaluation was at 6 mos and 12 mos; 39 infants were evaluated at both time points . None. Functional residual capacity and forced expiratory flow at functional residual capacity were measured and expressed as z score. Mean (sem) functional residual capacities in z score were 0.0 (0.2) and 0.2 (0.2) at 6 mos and 12 mos, respectively. Mean (sem) forced expiratory flow was significantly below average (z score = 0) (p capacity significantly above normal: mean (sem) z score = 1.2 (0.5). Infants treated with extracorporeal membrane oxygenation have normal lung volumes and stable forced expiratory flows within normal range, although below average, within the first year of life. There is reason to believe, therefore, that extracorporeal membrane oxygenation either ameliorates the harmful effects of mechanical ventilation or somehow preserves lung function in the very ill neonate.

  16. Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions.

    Science.gov (United States)

    Cohen, Philip R

    2011-08-01

    Longitudinal erythronychia is a linear red band on the nail plate that originates at the proximal nail fold, traverses the lunula, and extends to the free edge of the nail plate. Longitudinal erythronychia is classified based upon the number of nails affected and the number of red streaks present on each nail as follows: type Ia (monodactylous - single band), type Ib (monodactylous - bifid bands), type IIa (polydactylous - single band), and type IIb (polydactylous - multiple bands). Associated morphologic findings that can be present at the distal tip of the nail with longitudinal erythronychia include fragility, onycholysis, splinter hemorrhage, splitting, subungual keratosis, thinning, and V-shaped nick. Some patients with longitudinal erythronychia seek medical evaluation because of pain in the associated distal digit; however, the linear red nail plate dyschromia is often asymptomatic and the individual is concerned about the cosmetic appearance or distal nail fragility. Longitudinal erythronychia can be a clinical manifestation of an underlying local or systemic condition. Benign tumors (glomus tumor, onychopapilloma, and warty dyskeratoma), malignant neoplasms (malignant melanoma and squamous cell carcinoma), and other conditions (hemiplegia and postsurgical scar) can be associated with monodactylous longitudinal erythronychia or it may be idiopathic or the initial stage of polydactylous longitudinal erythronychia-associated systemic conditions. Polydactylous longitudinal erythronychia is most commonly reported in patients with Darier disease (keratosis follicularis); other associated conditions include acantholytic dyskeratotic epidermal nevus, acantholytic epidermolysis bullosa, acrokeratosis verruciformis of Hopf, amyloidosis, graft-versus-host disease, lichen planus, and pseudobulbar syndrome. Polydactylous longitudinal erythronychia has also been observed as an idiopathic finding. Biopsy of the nail matrix and nail bed may be necessary to establish the

  17. Longitudinal research and data collection in primary care.

    NARCIS (Netherlands)

    Weel, C. van

    2005-01-01

    PURPOSE: This article reviews examples of and experience with longitudinal research in family medicine. The objective is to use this empirical information to formulate recommendations for improving longitudinal research. METHODS: The article discusses 3 longitudinal studies from the Nijmegen

  18. 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....

  19. 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 ...

  20. 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 ...

  1. 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.

  2. 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, ...

  3. 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 ...

  4. 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.

  5. 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, ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. 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 ...

  10. 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

  11. 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 ...

  12. 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 ...

  13. 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 ...

  14. 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 ...

  15. 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. ...

  16. 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 ...

  17. 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 ...

  18. 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.

  19. [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.

  20. 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.)....

  1. 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

  2. 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.

  3. 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.

  4. 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 ...

  5. 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)

  6. 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: ...

  7. 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

  8. 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 ...

  9. 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...

  10. 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

  11. 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

  12. Presymptomatic and longitudinal neuroimaging in neurodegeneration--from snapshots to motion picture: a systematic review.

    Science.gov (United States)

    Schuster, Christina; Elamin, Marwa; Hardiman, Orla; Bede, Peter

    2015-10-01

    Recent quantitative neuroimaging studies have been successful in capturing phenotype and genotype-specific changes in dementia syndromes, amyotrophic lateral sclerosis, Parkinson's disease and other neurodegenerative conditions. However, the majority of imaging studies are cross-sectional, despite the obvious superiority of longitudinal study designs in characterising disease trajectories, response to therapy, progression rates and evaluating the presymptomatic phase of neurodegenerative conditions. The aim of this work is to perform a systematic review of longitudinal imaging initiatives in neurodegeneration focusing on methodology, optimal statistical models, follow-up intervals, attrition rates, primary study outcomes and presymptomatic studies. Longitudinal imaging studies were identified from 'PubMed' and reviewed from 1990 to 2014. The search terms 'longitudinal', 'MRI', 'presymptomatic' and 'imaging' were utilised in combination with one of the following degenerative conditions; Alzheimer's disease, amyotrophic lateral sclerosis/motor neuron disease, frontotemporal dementia, Huntington's disease, multiple sclerosis, Parkinson's disease, ataxia, HIV, alcohol abuse/dependence. A total of 423 longitudinal imaging papers and 103 genotype-based presymptomatic studies were identified and systematically reviewed. Imaging techniques, follow-up intervals and attrition rates showed significant variation depending on the primary diagnosis. Commonly used statistical models included analysis of annualised percentage change, mixed and random effect models, and non-linear cumulative models with acceleration-deceleration components. Although longitudinal imaging studies have the potential to provide crucial insights into the presymptomatic phase and natural trajectory of neurodegenerative processes a standardised design is required to enable meaningful data interpretation. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under

  13. 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.

  14. Transverse and Longitudinal proximity effect

    Science.gov (United States)

    Jalan, Pryianka; Chand, Hum; Srianand, Raghunathan

    2018-04-01

    With close pairs (˜1.5arcmin) of quasars (QSOs), absorption in the spectra of a background quasar in the vicinity of a foreground quasar can be used to study the environment of the latter quasar at kpc-Mpc scales. For this we used a sample of 205 quasar pairs from the Sloan Digital Sky-Survey Data Release 12 (SDSS DR12) in the redshift range of 2.5 to 3.5 by studying their H I Ly-α absorption. We study the environment of QSOs both in the longitudinal as well as in the transverse direction by carrying out a statistical comparison of the Ly-α absorption lines in the quasar vicinity to that of the absorption lines caused by the inter-galactic medium (IGM). This comparison was done with IGM, matched in absorption redshift and signal-to-noise ratio (SNR) to that of the proximity region. In contrast to the measurements along the line-of-sight, the regions transverse to the quasars exhibit enhanced H I Ly-α absorption. This discrepancy can either be interpreted as due to an anisotropic emission from the quasars or as a consequence of their finite lifetime.

  15. 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.

  16. 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

  17. Cognitive, Linguistic and Adaptive Functioning in Williams Syndrome: Trajectories from Early to Middle Adulthood

    Science.gov (United States)

    Howlin, Patricia; Elison, Sarah; Udwin, Orlee; Stinton, Christopher

    2010-01-01

    Background: Little is known about trajectories of cognitive functioning as individuals with Williams syndrome (WS) move though adulthood. Method: The present study investigated cognitive, linguistic and adaptive functioning in adults with WS aged 19-55 years, using both cross-sectional and longitudinal approaches. Results: Data from the…

  18. Systematic Review of Cognitive Development across Childhood in Down Syndrome: Implications for Treatment Interventions

    Science.gov (United States)

    Patterson, T.; Rapsey, C. M.; Glue, P.

    2013-01-01

    Background: There is conjecture regarding the profile of cognitive development over time in children with Down syndrome (DS). Characterising this profile would be valuable for the planning and assessment of intervention studies. Method: A systematic search of the literature from 1990 to the present was conducted to identify longitudinal data on…

  19. Does polycystic ovary syndrome affect cognition? : A functional magnetic resonance imaging study exploring working memory

    NARCIS (Netherlands)

    Soleman, Remi S; Kreukels, Baudewijntje P C; Veltman, Dick J; Cohen-Kettenis, Peggy T; Hompes, Peter G A; Drent, Madeleine L; Lambalk, Cornelis B

    OBJECTIVE: To study effects of overexposure to androgens and subsequent antiandrogenic treatment on brain activity during working memory processes in women with polycystic ovary syndrome (PCOS). DESIGN: In this longitudinal study, working memory function was evaluated with the use of functional

  20. Syndrome Specificity and Mother-Child Interactions: Examining Positive and Negative Parenting across Contexts and Time

    Science.gov (United States)

    Blacher, Jan; Baker, Bruce L.; Kaladjian, Araksia

    2013-01-01

    This study examined the extent to which child syndromes and observation context related to mothers' parenting behaviors. Longitudinal observations were conducted of parenting behavior across ages 3, 4, and 5 years during structured and unstructured activities. The 183 participants included mothers of children with autism spectrum disorders,…

  1. Life Satisfaction among Mothers of Individuals with Prader-Willi Syndrome

    Science.gov (United States)

    Shivers, Carolyn M.; Leonczyk, Caroline L.; Dykens, Elisabeth M.

    2016-01-01

    Mothers of individuals with Prader-Willi syndrome (PWS) often experience numerous stressors, even when compared to mothers of children with other intellectual and developmental disabilities. Despite this, these mothers show great variability in self-reported life satisfaction. Using data from a longitudinal study of individuals with PWS and their…

  2. Long-term hormone replacement therapy preserves bone mineral density in Turner syndrome

    DEFF Research Database (Denmark)

    Cleemann, Line; Hjerrild, Britta E; Lauridsen, Anna L

    2009-01-01

    CONTEXT: Reduced bone mineral density (BMD) and increased risk of fractures are present in many women with Turner syndrome (TS). OBJECTIVE: Examine longitudinal changes in BMD in TS and relate changes to biochemical parameters. DESIGN: Prospective, pragmatic, and observational study. Examinations...

  3. Prevalence, course and determinants of carpal tunnel syndrome symptoms during pregnancy : A prospective study

    NARCIS (Netherlands)

    Meems, M.; Truijens, S. E. M.; Spek, V.; Visser, L. H.; Pop, V. J. M.

    2015-01-01

    Objective To investigate the prevalence, severity and relation to fluid retention of self-reported pregnancy-related carpal tunnel syndrome (CTS) symptoms in a large sample of pregnant women. Design A prospective longitudinal cohort study. Setting Dutch women who became pregnant between January 2013

  4. Bronchiolitis obliterans syndrome after lung transplantation and health-related quality of life

    NARCIS (Netherlands)

    van den Berg, JWK; van der Bij, W; Koeter, GH; Postma, DS; ten Vergert, EM

    The present study was undertaken to assess the relationship between health-related quality of life (HRQOL) and bronchiolitis obliterans syndrome (BOS), as both represent important parameters of outcome after lung transplantation. HRQOL was measured both cross-sectionally and longitudinally by

  5. Systematic review of case reports of antiphospholipid syndrome following infection.

    Science.gov (United States)

    Abdel-Wahab, N; Lopez-Olivo, M A; Pinto-Patarroyo, G P; Suarez-Almazor, M E

    2016-12-01

    and antiphospholipid syndrome cannot be established, but the possible contribution of various infections in the pathogenesis of antiphospholipid syndrome need further longitudinal and controlled studies to establish the incidence, and better quantify the risk and the outcomes of antiphospholipid-related events after infection. © The Author(s) 2016.

  6. An alternative longitudinal polarization scheme for tristan

    International Nuclear Information System (INIS)

    Chao, A.W.; Yokoya, Kaoru.

    1981-07-01

    For electron storage rings general conditions are derived to get a high level longitudinal polarization and a possible design of the experimental insertion for TRISTAN e-p collider is presented. (author)

  7. Longitudinal beam dynamics at transition crossing

    Energy Technology Data Exchange (ETDEWEB)

    Bogacz, S.A.

    1991-11-01

    A brief outline of the longitudinal single particle dynamics at transition is presented in terms of phase-space mappings. Simple quantitative prediction about the phase-space dilution is made. More realistic simulation (ESME) of the transition crossing is carried out (including various collective and single particle effects contributing to the longitudinal emittance blow up). The simulation takes into account the longitudinal space-charge force (bunch length oscillation), the transverse space-charge (the Umstaetter effect) and finally the dispersion of the momentum compaction factor (the Johnsen effect). As a result of this simulation one can separate relative strengths of the above mechanisms and study their individual effects on the longitudinal phase-space evolution, especially filamentation of the bunch and formation of a galaxy-like'' pattern. 7 refs., 2 figs.

  8. Energy dissipation by a longitudinal Raman process

    International Nuclear Information System (INIS)

    Fano, U.; Inokuti, Mitio

    1994-01-01

    The concept of a longitudinal Raman process is introduced to encompass the indirect transmission of energy from slow electrons to nuclei through the reversible polarization of surrounding electrons. Experimental approaches are sought to assess this process quantitatively

  9. Multilevel Cross-Dependent Binary Longitudinal Data

    KAUST Repository

    Serban, Nicoleta; Staicu, Ana-Maria; Carroll, Raymond J.

    2013-01-01

    processes describing the within- and between-variability, and describing the cross-dependence of the repeated longitudinal measurements. We estimate the model components without employing mixed-effects modeling but assuming an approximation to the logistic

  10. Neurobehavioral aspects, pathophysiology, and management of Tourette syndrome.

    Science.gov (United States)

    Shprecher, David R; Schrock, Lauren; Himle, Michael

    2014-08-01

    This update summarizes progress in understanding Tourette syndrome clinical characteristics, etiology, and treatment over the past year. Premonitory sensory phenomena were found to have important impacts on Tourette syndrome quality of life. A rare genetic form of Tourette syndrome due to L-histidine-decarboxylase mutation, with similar features in human and rodent, has inspired new research on functional anatomy of Tourette syndrome. In response to new data, treatment guidelines have been revised to include behavioral therapy as first-line treatment. Novel dopamine receptor antagonists aripiprazole and ecopipam have shown potential efficacy - as well as tolerability concerns. Recent work has suggested efficacy and tolerability of topiramate and fluphenazine, but more rigorous studies are needed to further understand their role in Tourette syndrome management. Recent consensus guidelines explain when deep brain stimulation can be considered for severe refractory cases under a multidisciplinary team. More research is needed to identify better tolerated treatments for, to understand pathophysiology or functional anatomy of, and to predict or influence longitudinal outcome of Tourette syndrome.

  11. Is Pseudoexfoliation Syndrome a Risk Factor for Cerebro Vascular Disease?

    Science.gov (United States)

    Kan, Emrah; Yılmaz, Ahmet; Demirağ, Mehmet Derya; Çalık, Murat

    2017-01-01

    To determine the relationship between cerebro vascular disease and pseudoexfoliation syndrome. This cross-sectional case control study consisted of 50 patients with ischemic-type cerebro vascular disease and 50 control subjects. All subjects were investigated for diabetes mellitus and hypertension status and underwent a detailed ophthalmic examination. A diagnosis of pseudoexfoliation syndrome was made if characteristic greyish particulate matter was found on the anterior lens capsule after pupillary dilatation by slit-lamp examination. All subjects were compared in terms of pseudoexfoliation syndrome, diabetes mellitus, and hypertension. Pearson Chi Square and Student's t test were used for statistical analysis. Logistic regression analyses of the risk factors between groups were also made. The presence of pseudoexfoliation syndrome was significantly higher in patients with cerebro vascular disease when compared to the control subjects (p = 0.02). The frequency of diabetes mellitus was similar between the two groups. Arterial hypertension was significantly more frequent in the patient group when compared to the control subjects (p cerebro vascular disease. In the present study, we found that pseudoexfoliation syndrome frequency was found to be higher in patients with cerebro vascular disease than in control subjects. A slit-lamp examination of the eye could be an important marker that indicates the risk of cerebro vascular disease. We recommend an evaluation of all subjects with pseudoexfoliation syndrome for the presence of cerebro vascular disease. Longitudinal studies with larger populations are needed to confirm this relationship.

  12. Longitudinal and transverse wake potentials in SLAC

    International Nuclear Information System (INIS)

    Bane, K.; Wilson, P.

    1980-01-01

    In a machine with short bunches of high peak currents, such as the SLAC collider, one needs to know the longitudinal wake potential, for the higher mode losses, and the transverse wake potential, since, for bunches passing slightly off axis, the induced transverse forces will tend to cause beam break up. The longitudinal and transverse wakes of the SLAC structure presented here, were calculated by computer using the modal method, and including an analytic extension for higher modes. (Auth.)

  13. Longitudinal Risk Factors for Cyberbullying in Adolescence

    OpenAIRE

    Sticca, Fabio; Ruggieri, Sabrina; Alsaker, Françoise; Perren, Sonja

    2013-01-01

    Cyberbullying has emerged as a new form of antisocial behaviour in the context of online communication over the last decade. The present study investigates potential longitudinal risk factors for cyberbullying. A total of 835 Swiss seventh graders participated in a short-term longitudinal study (two assessments 6 months apart). Students reported on the frequency of cyberbullying, traditional bullying, rule-breaking behaviour, cybervictimisation, traditional victimisation, and frequency of onl...

  14. Nonlinear longitudinal dynamics studies at the ALS

    International Nuclear Information System (INIS)

    Byrd, J.M.; Cheng, W.-H.; De Santis, S.; Li, D.; Stupakov, G.; Zimmermann, F.

    1999-01-01

    We present a summary of results for a variety of studies of nonlinear longitudinal dynamics in the Advanced Light Source, an electron storage ring. These include observation of decoherence at injection, decay of an injected beam, forced synchrotron oscillations and diffusion from one bunch to the next. All of the measurements were made using a dual-scan streak camera which allowed the real-time observation of the longitudinal distribution of the electron beam

  15. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  16. Cardiorenal Syndrome in Acute Heart Failure Syndromes

    Directory of Open Access Journals (Sweden)

    Mohammad Sarraf

    2011-01-01

    Full Text Available Impaired cardiac function leads to activation of the neurohumoral axis, sodium and water retention, congestion and ultimately impaired kidney function. This sequence of events has been termed the Cardiorenal Syndrome. This is different from the increase in cardiovascular complications which occur with primary kidney disease, that is, the so-called Renocardiac Syndrome. The present review discusses the pathogenesis of the Cardiorenal Syndrome followed by the benefits and potential deleterious effects of pharmacological agents that have been used in this setting. The agents discussed are diuretics, aquaretics, natriuretic peptides, vasodilators, inotropes and adenosine α1 receptor antagonists. The potential role of ultrafiltration is also briefly discussed.

  17. Docosahexaenoic Acid Levels in Blood and Metabolic Syndrome in Obese Children: Is There a Link?

    Science.gov (United States)

    Lassandro, Carlotta; Banderali, Giuseppe; Radaelli, Giovanni; Borghi, Elisa; Moretti, Francesca; Verduci, Elvira

    2015-08-21

    Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF) criteria has been suggested in children. Docosahexaenoic acid (DHA) has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DHA content in plasma and erythrocytes and components of the metabolic syndrome included in the IDF criteria (obesity, alteration of glucose metabolism, blood lipid profile, and blood pressure) and non-alcoholic fatty liver disease in obese children. The current evidence is inconsistent and no definitive conclusion can be drawn in the pediatric population. Well-designed longitudinal and powered trials need to clarify the possible association between blood DHA status and metabolic syndrome.

  18. Docosahexaenoic Acid Levels in Blood and Metabolic Syndrome in Obese Children: Is There a Link?

    Directory of Open Access Journals (Sweden)

    Carlotta Lassandro

    2015-08-01

    Full Text Available Prevalence of metabolic syndrome is increasing in the pediatric population. Considering the different existing criteria to define metabolic syndrome, the use of the International Diabetes Federation (IDF criteria has been suggested in children. Docosahexaenoic acid (DHA has been associated with beneficial effects on health. The evidence about the relationship of DHA status in blood and components of the metabolic syndrome is unclear. This review discusses the possible association between DHA content in plasma and erythrocytes and components of the metabolic syndrome included in the IDF criteria (obesity, alteration of glucose metabolism, blood lipid profile, and blood pressure and non-alcoholic fatty liver disease in obese children. The current evidence is inconsistent and no definitive conclusion can be drawn in the pediatric population. Well-designed longitudinal and powered trials need to clarify the possible association between blood DHA status and metabolic syndrome.

  19. Weight Suppression Predicts Maintenance and Onset of Bulimic Syndromes at 10-Year Follow-up

    Science.gov (United States)

    Keel, Pamela K.; Heatherton, Todd F.

    2010-01-01

    Conflicting results have emerged regarding the prognostic significance of weight suppression for maintenance of bulimic symptoms. This study examined whether the magnitude of weight suppression would predict bulimic syndrome maintenance and onset in college-based samples of men (n=369) and women (n=968) at 10-year follow-up. Data come from a longitudinal study of body weight and disordered eating with high retention (80%). Among those with a bulimic syndrome at baseline, greater weight suppression significantly predicted maintenance of the syndrome, and, among those without a bulimic syndrome at baseline, greater weight suppression predicted onset of a bulimic syndrome at 10-year follow-up in multivariate models that included baseline body mass index, diet frequency, and weight perception. Future research should address mechanisms that could account for the effects of weight suppression over a long duration of follow-up. PMID:20455599

  20. A Rare Pontine Neuro-ophthalmic Syndrome: Eight-and-a-Half Syndrome

    Directory of Open Access Journals (Sweden)

    Esra Eruyar

    2017-06-01

    Full Text Available One-and-a half syndrome is seen in paramedian pontine lesions, and may also co-exist with cranial nerve paralysis. This clinical situation is called eight-and-a-half syndrome when facial nerve paralysis also accompanies this manifestation. A man aged 38 years was admitted with symptoms of sudden-onset binocular diplopia and dizziness. The patient had no known co-morbidities. Cranial magnetic resonance imaging showed a small-sized infarct in the left paramedian pontine tegmentum posterior area. In his neuro-ophthalmologic examination, total paresis of left eye horizontal movements, mild lateral deviation, and monocular nystagmus during abduction of the right eye were observed. The patient also had peripheral facial paralysis on the left side; therefore, no signs of motor deficit of his extremities were examined. Eight-and-a-half syndrome is a rare disorder that is seen in localized-small pons lesions, mostly accompanied by infarcts. This clinical manifestation is called eight-and-a-half syndrome and arises within lesions in both the parapontine reticular formation and the medial longitudinal fasciculus in the inferior pons tegmentum where horizontal eye movements are controlled, and facial axons adjacent to the nucleus of the sixth nerve. We wanted to present this case to emphasize this rare situation

  1. Genetics Home Reference: Marfan syndrome

    Science.gov (United States)

    ... Share: Email Facebook Twitter Home Health Conditions Marfan syndrome Marfan syndrome Printable PDF Open All Close All Enable Javascript ... Marfan syndrome KidsHealth from Nemours Foundation MalaCards: marfan syndrome Orphanet: Marfan syndrome Your Genes Your Health from Cold Spring ...

  2. Gorlin-goltz syndrome

    Directory of Open Access Journals (Sweden)

    B V Shobha

    2011-01-01

    Full Text Available Gorlin-Goltz syndrome also known as nevoid basal cell carcinoma syndrome (NBCCS is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT in the jaw, multiple basal cell carcinomas and skeletal abnormalities. This syndrome may be diagnosed early by a dentist by routine radiographic examination in the first decade of life, as KCOTs are usually one of the first manifestations of the NBCCS syndrome. This article reports the case of a 12-year-old girl with Gorlin-Goltz syndrome, emphasizing its clinical and radiographic manifestation. This study highlights the importance of health professionals in the early diagnosis of this syndrome and a multidisciplinary approach to provide a better diagnosis and prognosis.

  3. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  4. [Menopause and metabolic syndrome].

    Science.gov (United States)

    Meirelles, Ricardo M R

    2014-03-01

    The incidence of cardiovascular disease increases considerably after the menopause. One reason for the increased cardiovascular risk seems to be determined by metabolic syndrome, in which all components (visceral obesity, dyslipidemia, hypertension, and glucose metabolism disorder) are associated with higher incidence of coronary artery disease. After menopause, metabolic syndrome is more prevalent than in premenopausal women, and may plays an important role in the occurrence of myocardial infarction and other atherosclerotic and cardiovascular morbidities. Obesity, an essential component of the metabolic syndrome, is also associated with increased incidence of breast, endometrial, bowel, esophagus, and kidney cancer. The treatment of metabolic syndrome is based on the change in lifestyle and, when necessary, the use of medication directed to its components. In the presence of symptoms of the climacteric syndrome, hormonal therapy, when indicated, will also contribute to the improvement of the metabolic syndrome.

  5. Orofacial syndromes: A review

    Directory of Open Access Journals (Sweden)

    N Shyam Sunder

    2011-01-01

    Full Text Available A syndrome is a set of signs and symptoms that tend to occur together and reflect the presence of a particular disease or an increased chance of developing to a particular disease. There are numerous orofacial syndromes and a thorough knowledge of their manifestations and implications is pertinent in good oral health care delivery. The aim of this review is to describe collective esoteric knowledge, about various malformations and syndromes associated with orofacial region.

  6. Steele Richardson Olszewski syndrome

    Directory of Open Access Journals (Sweden)

    Vijayashree S Gokhale

    2013-01-01

    Full Text Available Parkinson′s disease and its plus syndromes are an important cause of morbidity in the geriatric age group. Its plus syndromes show a myriad of clinical features characterized by progressive symptoms. Here we present a 65-year-old woman with progressive "Parkinsonian-like features," i.e., mask-like face, slowness of all movements and tendency to fall, and difficulty in eye movements, leading to the diagnosis of Steele Richardson Olszewski Syndrome or progressive supranuclear palsy.

  7. 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...

  8. Post cardiac injury syndrome

    DEFF Research Database (Denmark)

    Nielsen, S L; Nielsen, F E

    1991-01-01

    The post-pericardiotomy syndrome is a symptom complex which is similar in many respects to the post-myocardial infarction syndrome and these are summarized under the diagnosis of the Post Cardiac Injury Syndrome (PCIS). This condition, which is observed most frequently after open heart surgery, i...... on the coronary vessels, with cardiac tamponade and chronic pericardial exudate. In the lighter cases, PCIS may be treated with NSAID and, in the more severe cases, with systemic glucocorticoid which has a prompt effect....

  9. A seizuring alagille syndrome

    Directory of Open Access Journals (Sweden)

    Jomon Mathew John

    2017-01-01

    Full Text Available Alagille syndrome is a rare autosomal dominant inherited disorder with incidence of one in 100,000 live births. This syndrome with seizure as a presentation has been rarely reported in Indian studies. We present a 3-month-old infant who presented to us with seizures was found to have a dysmorphic face, jaundice, hepatomegaly, and soft systolic murmur. Infant was stabilized and remained seizure free. A detailed clinical evaluation of a common presentation may reveal a rare syndrome.

  10. Genetics Home Reference: Waardenburg syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Waardenburg syndrome Waardenburg syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Waardenburg syndrome is a group of genetic conditions that can ...

  11. What Is Antiphospholipid Antibody Syndrome?

    Science.gov (United States)

    ... Back To Health Topics / Antiphospholipid Antibody Syndrome Antiphospholipid Antibody Syndrome Also known as What Is Antiphospholipid (AN-te-fos-fo-LIP-id) antibody syndrome (APS) is an autoimmune disorder. Autoimmune disorders ...

  12. What Is Respiratory Distress Syndrome?

    Science.gov (United States)

    ... Home / Respiratory Distress Syndrome Respiratory Distress Syndrome Also known as What Is Respiratory ... This condition is called apnea (AP-ne-ah). Respiratory Distress Syndrome Complications Depending on the severity of ...

  13. Genetics Home Reference: Turner syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  14. Guide to Understanding Pfeiffer Syndrome

    Science.gov (United States)

    ... syndrome occurs more often in children with older fathers. if I have pfeiffer syndrome what are the odds of passing it to my children? p feiffer syndrome is a rare, autosomal dominant disorder, meaning it requires only one parent to ...

  15. Genetics Home Reference: Cockayne syndrome

    Science.gov (United States)

    ... Cockayne syndrome type II is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some ... link) National Institute of Neurological Disorders and Stroke: Cerebro-Oculo-Facio-Skeletal Syndrome Educational Resources (8 links) ...

  16. Genetics Home Reference: MEGDEL syndrome

    Science.gov (United States)

    ... Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 ... Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 ...

  17. Genetics Home Reference: Usher syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Usher syndrome Usher syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Usher syndrome is a condition characterized by partial or total ...

  18. Genetics Home Reference: Bartter syndrome

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  19. Lesch-Nyhan Syndrome

    Science.gov (United States)

    ... National Organization for Rare Disorders (NORD) Purine Research Society See all related organizations Publications Order NINDS Publications Definition Lesch-Nyhan syndrome (LNS) is a rare, inherited ...

  20. SNEDDON’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Valentin Valtchev

    2008-10-01

    Full Text Available Sneddon’s syndrome is usually characterized by the association of an ischemic cerebrovascular disease and a widespread livedo reticularis. The incidence of Sneddon syndrome is 4/1000 000. We present 42-year-old woman with livedo reticularis, recurrence ischaemic cerebrovascular accidents, two repetitive miscarriages and positive anti-2GPi antibodies. Skin biopsy specimens reveal inflammatory changes of small- to medium-sized arteries and subendothelial proliferation and fibrosis. The diagnosis Sneddon syndrome is confirmed by skin biopsy, and MR evidence. We suggest that anti-2GPi antibodies may be pathophysiologically related to the clinical manifestation observed in some patients with Sneddon syndrome.

  1. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  2. [Neurobiology of Tourette Syndrome].

    Science.gov (United States)

    Ünal, Dilek; Akdemir, Devrim

    2016-01-01

    Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although it is a common disorder in childhood, the etiology of Tourette Syndrome has not been fully elucidated yet. Studies, -conducted so far- have revealed differences in neurobiological structures of individuals who suffer from Tourette Syndrome. The objective of this review is to assess etiological and pathophysiological studies in the Tourette Syndrome literature. An electronical search was conducted in PubMed database using the keywords tic disorders, Tourette Syndrome, neurobiology, genetics, neuroimaging and animal models. Research and review studies published between 1985 and 2015, with a selection preference towards recent publications, were reviewed. According to the studies, genetic predisposition hypothesis is considered as a priority. However, a precise genetic disorder associated with Tourette Syndrome has not been found. The evidence from postmortem and neuroimaging studies in heterogenous patient groups and animal studies supports the pathological involvement of cortico-striato-thalamo-cortical (CSTC) circuits in Tourette Syndrome. Consequently, the most emphasized hypothesis in the pathophysiology is the dopaminergic dysfunction in these circuits. Furthermore, these findings of the animal, postmortem and neuroimaging studies have confirmed the neurodevelopmental hypothesis of Tourette Syndrome. In conclusion, more studies are needed to understand the etiology of the disorder. The data obtained from neurobiological studies of the disorder will not only shed light on the way of Tourette Syndrome, but also guide studies on its treatment options.

  3. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  4. Central Pain Syndrome

    Science.gov (United States)

    ... such as neurontin (gabapentin) can be useful. Lowering stress levels appears to reduce pain. View Full Treatment Information Definition Central pain syndrome is a neurological condition caused ...

  5. Neurocutaneous syndrome: A prospective study

    Directory of Open Access Journals (Sweden)

    Radheshyam Purkait

    2011-01-01

    Full Text Available Background: Neurocutaneous syndromes (NCS are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children. Aim: The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations. Materials and Methods: This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years. Results: The study population comprised of 67 children (35 boys, 32 girls.The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months. The various forms of NCS observed was neurofibromatosis 1(NF1 (n=33, tuberous sclerosis complex (TSC (n=23, Sturge Weber syndrome (n=6, ataxia telangiectasia (n=2, PHACE syndrome (n=1, incontinentia pigmenti (n=1, and hypomelanosis of Ito (n=1. The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs with time (P=0.0002 in NF1, unlike that of hypopigmented macules of TSC (P=0.15. Statistically, no relation was documented between the evolution of skin

  6. Longitudinal fluctuations and decorrelation of anisotropic flow

    Energy Technology Data Exchange (ETDEWEB)

    Pang, Long-Gang [Frankfurt Institute for Advanced Studies, Ruth-Moufang-Strasse 1, 60438 Frankfurt am Main (Germany); Petersen, Hannah [Frankfurt Institute for Advanced Studies, Ruth-Moufang-Strasse 1, 60438 Frankfurt am Main (Germany); Institute for Theoretical Physics, Goethe University, Max-von-Laue-Strasse 1, 60438 Frankfurt am Main (Germany); GSI Helmholtzzentrum für Schwerionenforschung, Planckstr. 1, 64291 Darmstadt (Germany); Qin, Guang-You [Key Laboratory of Quark & Lepton Physics (MOE) and Institute of Particle Physics, Central China Normal University, Wuhan 430079 (China); Roy, Victor [Institute for Theoretical Physics, Goethe University, Max-von-Laue-Strasse 1, 60438 Frankfurt am Main (Germany); Wang, Xin-Nian [Key Laboratory of Quark & Lepton Physics (MOE) and Institute of Particle Physics, Central China Normal University, Wuhan 430079 (China); Nuclear Science Division MS70R0319, Lawrence Berkeley National Laboratory, Berkeley, CA 94720 (United States)

    2016-12-15

    We investigate the decorrelation of 2nd and 3rd order anisotropic flow for charged particles in two different pseudo rapidity (η) windows by varying the pseudo rapidity gap, in an event-by-event (3+1)D ideal hydrodynamic model, with fluctuating initial conditions from A Multi-Phase Transport (AMPT) model. We visualize the parton distribution at initial state for Pb+Pb collisions at LHC and Au+Au collisions at RHIC, and demonstrate the longitudinal fluctuations originating from the asymmetry between forward and backward going participants, the fluctuations of the string length and the fluctuations due to finite number of partons at different beam energies. The decorrelation of anisotropic flow of final hadrons with large η gaps is found to originate from the spatial decorrelation along the longitudinal direction in the AMPT initial conditions through hydrodynamic evolution. The agreement between our results and recent CMS data in most centralities suggests that the string-like mechanism of initial parton production in AMPT model captures the initial longitudinal fluctuation that is responsible for the measured decorrelation of anisotropic flow in Pb+Pb collisions at LHC. Our predictions for Au+Au collisions at the highest RHIC energy show stronger longitudinal decorrelation than at LHC, indicating larger longitudinal fluctuations at lower beam energies.

  7. Study of CSR longitudinal bunch compression cavity

    International Nuclear Information System (INIS)

    Yin Dayu; Li Peng; Liu Yong; Xie Qingchun

    2009-01-01

    The scheme of longitudinal bunch compression cavity for the Cooling Storage Ring (CSR)is an important issue. Plasma physics experiments require high density heavy ion beam and short pulsed bunch,which can be produced by non-adiabatic compression of bunch implemented by a fast compression with 90 degree rotation in the longitudinal phase space. The phase space rotation in fast compression is initiated by a fast jump of the RF-voltage amplitude. For this purpose, the CSR longitudinal bunch compression cavity, loaded with FINEMET-FT-1M is studied and simulated with MAFIA code. In this paper, the CSR longitudinal bunch compression cavity is simulated and the initial bunch length of 238 U 72+ with 250 MeV/u will be compressed from 200 ns to 50 ns.The construction and RF properties of the CSR longitudinal bunch compression cavity are simulated and calculated also with MAFIA code. The operation frequency of the cavity is 1.15 MHz with peak voltage of 80 kV, and the cavity can be used to compress heavy ions in the CSR. (authors)

  8. Abdominoplasty in Prune Belly Syndrome.

    Science.gov (United States)

    Dénes, F T; Park, R; Lopes, R I; Moscardi, P R M; Srougi, M

    2015-10-01

    Many patients with Prune Belly Syndrome (PBS) require abdominoplasty alone or in combination with correction of any urogenital abnormalities. This video presents a simplified technique with which to treat the abdominal flaccidity in PBS. A longitudinal xypho-pubic fusiform figure is drawn on the abdomen, based on the area of skin and subcutaneous tissue to be removed. This is performed with preservation of the musculo-fascial layer and the umbilicus. A lateral elliptical single xypho-pubic line is drawn in the most lax side of the fascia, which is incised along this line. After urinary tract reconstruction and orchidopexy, closure is initiated by suturing the medial edge of the wider fascial flap laterally to the peritoneal side of the contralateral flap. Next, the now outer fascial flap is laid over the inner flap, and a buttonhole is made to expose the umbilicus. The subcutaneous tissue of the inner flap is laterally undermined to gain extra distance for the suture of the outer flap over the inner flap. The subcutaneous tissue and skin are sutured in the midline, incorporating the umbilicus. In a 30-year period, 43 PBS patients underwent this procedure with good cosmetic and long-term functional results. This abdominoplasty technique is simple and presents good functional and cosmetic results in PBS patients. Copyright © 2015 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

  9. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  10. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  11. Longitudinally extensive optic neuritis in neuromyelitis optica spectrum disorder.

    Science.gov (United States)

    Pula, John H; Kattah, Jorge C; Keung, Bonnie; Wang, Huaping; Daily, Jennifer

    2014-10-15

    Neuomyelitis optica, sarcoid, and multiple sclerosis can all cause optic neuritis. Further means of distinguishing the causes of optic neuritis among these etiologies would be valuable for the clinician. This is a retrospective, cohort study from a single university based hospital and neuro-ophthalmology clinic. Blinded interpretation of orbit MRIs was performed on patients with acute optic neuritis from multiple sclerosis (n=25), sarcoid (n=5) and neuromyelitis optica spectrum disorder (n=6). A length of >40 mm anterior visual pathway enhancement distinguished neuromyelitis optica spectrum disorder from multiple sclerosis (p=0.0376). No statistically significant differences were found for presence of pain or papillitis, however there was a trend for bilateral involvement and chiasmal involvement in neuromyelitis optica spectrum disorder compared to multiple sclerosis. In acute optic neuritis, enhancing anterior visual pathway lesion length >40 mm helps differentiate neuromyelitis optica spectrum disorder from multiple sclerosis. This degree of involvement can be considered longitudinally extensive optic neuritis. Further characterization is necessary as this degree of enhancement occurs in other clinical syndromes besides neuromyelitis optica. Copyright © 2014 Elsevier B.V. All rights reserved.

  12. Longitudinal Electroproduction of Charged Pions from

    International Nuclear Information System (INIS)

    David Gaskell; Abdellah Ahmidouch; Pawel Ambrozewicz; H. Anklin; John Arrington; K. Assamagan; Steven Avery; Kevin Bailey; Oliver K. Baker; Shelton Beedoe; Elizabeth Beise; Herbert Breuer; D. S. Brown; Roger Carlini; Jinseok Cha; Nicholas Chant; Anthony Cowley; Samuel Danagoulian; D. De Schepper; Jim Dunne; Dipangkar Dutta; Rolf Ent; Liping Gan; Ashot Gasparian; Donald Geesaman; Ron Gilman; Charles Glashausser; Paul Gueye; M. Harvey; O. Hashimoto; Wendy Hinton; G. Hofman; Ceasar Jackson; Hal Jackson; Cynthia Keppel; Ed Kinney; Doug Koltenuk; G. Kyle; Allison Lung; David Mack; D. McKee; Joseph Mitchell; Hamlet Mkrtchyan; B. Mueller; Gabriel Niculescu; Ioana Niculescu; Tom O'Neill; V. Papavassiliou; Dave Potterveld; Juerg Reinhold; Philip Roos; Reyad Sawafta; Ralph Segel; Stepan Stepanyan; Vardan Tadevosyan; T. Takahashi; Liguang Tang; B. Terburg; D. Van Westrum; J. Volmer; T. P. Welch; Stephen Wood; Lulin Yuan; Ben Zeidman; Beni Zihlmann

    2001-01-01

    Separated longitudinal and transverse cross sections for charged pion electroproduction from 1 H, 2 H, and 3 He were measured at Q 2 = 0.4 (GeV/c) 2 for two values of the invariant mass, (bar W) = 1.15 GeV and (bar W) = 1.60 GeV, in a search for a mass dependence which would signal the effect of nuclear pions. This is the first such study that includes recoil momenta significantly above the Fermi surface. The longitudinal cross section, if dominated by the pion-pole process, should be sensitive to nuclear pion currents. Comparisons of the longitudinal cross section target ratios to a quasifree calculation reveal a significant suppression in 3> He at (bar W) = 1.60 GeV. The (bar W) = 1.15 GeV results are consistent with simple estimates of the effect of nuclear pion currents, but are also consistent with pure quasifree production

  13. Longitudinal magnetoresistance and magnototermopower in Bi nanowires

    International Nuclear Information System (INIS)

    Para, G.

    2011-01-01

    Full text: The galvanomagnetic effect of single crystals Bi nanowires have been studied in longitudinal magnetic fields up to 14 T. The influence of diameters, temperature and deformation extension on the longitudinal magnetoresistance and magnetotermopower (H||I, H||ΔT) of bismuth nanowires is studied. Elastic deformation measurements were conducted at maximum relative elongation 2 %. For the first time have been investigated the magnetotermopower of Bi nanowires with d=45 nm. Essentially non monotonic dependence H max on temperature in longitudinal thermopower in wires with d=45-60 nm is found out. Such difference in behavior of maximum on R(H) and on α(H) in wires with d<100nm says that the behavior of resistance is caused by other mechanism, then thermopower. (author)

  14. Review of retention strategies in longitudinal studies and application to follow-up of ICU survivors.

    Science.gov (United States)

    Tansey, Catherine M; Matté, Andrea L; Needham, Dale; Herridge, Margaret S

    2007-12-01

    To review the literature on retention strategies in follow-up studies and their relevance to critical care and to comment on the Toronto experience with the acute respiratory distress syndrome (ARDS) and severe acute respiratory syndrome (SARS) follow-up studies. Literature review and two cohort studies in a tertiary care hospital in Toronto, Canada. ARDS and SARS patients. Review articles from the social sciences and medicine are summarized and our own experience with two longitudinal studies is drawn upon to elucidate strategies that can be successfully used to attenuate participant drop-out from longitudinal studies. Three key areas for retention of subjects are identified from the literature: (a) respect for patients: respect for their ideas and their time commitment to the research project; (b) tracking: collect information on many patient contacts at the initiation of the study and outline tracking procedures for subjects lost to follow-up; and (c) study personnel: interpersonal skills must be reinforced, flexible working hours mandated, and support offered. Our 5-year ARDS and 1-year SARS study retention rates were 86% and 91%, respectively, using these methods. Strategies to reduce patient attrition are time consuming but necessary to preserve internal and external validity. When the follow-up system is working effectively, researchers can acquire the necessary data to advance knowledge in their field and patients are satisfied that they have an important role to play in the research project.

  15. 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.

  16. Wolfram syndrome 1 and Wolfram syndrome 2.

    Science.gov (United States)

    Rigoli, Luciana; Di Bella, Chiara

    2012-08-01

    Wolfram syndrome 1 (WS1) is an autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DI DM OA D syndrome) associated with other variable clinical manifestations. The causative gene for WS1 (WFS1) encoding wolframin maps to chromosome 4p16.1. Wolframin has an important function in maintaining the homeostasis of the endoplasmic reticulum (ER) in pancreatic β cells. Recently, another causative gene, CISD2, has been identified in patients with a type of Wolfram syndrome (WS2) resulting in early optic atrophy, diabetes mellitus, deafness, decreased lifespan, but not diabetes insipidus. The CISD2-encoded protein ERIS (endoplasmic reticulum intermembrane small protein) also localizes to ER, but does not interact directly with wolframin. ERIS maps to chromosome 4q22. Numerous studies have shown an interesting similarity between WFS1 and CISD2 genes. Experimental studies demonstrated that the Cisd2 knockout (Cisd2) mouse shows premature aging and typical symptoms of Wolfram syndrome. These researches provide interesting insight into the relation of neurodegenerative diseases, mitochondrial disorders, and autophagy and are useful for the pathophysiological understanding of both Wolfram syndrome and mitochondrial-mediated premature aging. The knowledge of WS1 and WS2 pathogenesis, and of the interactions between WFS1 and CISD2 genes, is useful for accurate diagnostic classification and for diagnosis of presymptomatic individuals.

  17. 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.

  18. Magnetic field of longitudinal gradient bend

    Science.gov (United States)

    Aiba, Masamitsu; Böge, Michael; Ehrlichman, Michael; Streun, Andreas

    2018-06-01

    The longitudinal gradient bend is an effective method for reducing the natural emittance in light sources. It is, however, not a common element. We have analyzed its magnetic field and derived a set of formulae. Based on the derivation, we discuss how to model the longitudinal gradient bend in accelerator codes that are used for designing electron storage rings. Strengths of multipole components can also be evaluated from the formulae, and we investigate the impact of higher order multipole components in a very low emittance lattice.

  19. Simulations of longitudinally pumped dye laser amplifier

    International Nuclear Information System (INIS)

    Takehisa, Kiwamu; Takemori, Satoshi

    1995-01-01

    Simulations of a copper laser pumped dye laser amplifier and new designs of the longitudinally pumped dye laser amplifier are presented. The simulations take the consideration of the amplified spontaneous emission (ASE). The new designs utilize a center-hole reflector instead of a dichroic mirror. The simulation results indicate that the poor spatial overlap between the pump beam and the dye beam in the transverse pumping not only reduces the laser output power, but also generates ASE strongly. The results also indicate that the longitudinal pumping is as efficient as the transverse pumping. (author)

  20. Longitudinal and bulk viscosities of expanded rubidium

    International Nuclear Information System (INIS)

    Zaheri, Ali Hossein Mohammad; Srivastava, Sunita; Tankeshwar, K

    2003-01-01

    First three non-vanishing sum rules for the bulk and longitudinal stress auto-correlation functions have been evaluated for liquid Rb at six thermodynamic states along the liquid-vapour coexistence curve. The Mori memory function formalism and the frequency sum rules have been used to calculate bulk and longitudinal viscosities. The results thus obtained for the ratio of bulk viscosity to shear viscosity have been compared with experimental and other theoretical predictions wherever available. The values of the bulk viscosity have been found to be more than the corresponding values of the shear viscosity for all six thermodynamic states investigated here

  1. Metabolic syndrome and quality of life: a systematic review

    Directory of Open Access Journals (Sweden)

    Patrícia Pozas Saboya

    Full Text Available ABSTRACT Objectives: to present currently available evidence to verify the association between metabolic syndrome and quality of life. Method: Cochrane Library, EMBASE, Medline and LILACS databases were studied for all studies investigating the association with metabolic syndrome and quality of life. Two blinded reviewers extracted data and one more was chosen in case of doubt. Results: a total of 30 studies were included, considering inclusion and exclusion criteria, which involved 62.063 patients. Almost all studies suggested that metabolic syndrome is significantly associated with impaired quality of life. Some, however, found association only in women, or only if associated with depression or Body Mass Index. Merely one study did not find association after adjusted for confounding factors. Conclusion: although there are a few studies available about the relationship between metabolic syndrome and quality of life, a growing body of evidence has shown significant association between metabolic syndrome and the worsening of quality of life. However, it is necessary to carry out further longitudinal studies to confirm this association and verify whether this relationship is linear, or only an association factor.

  2. Alport Syndrome Diagnosis

    Science.gov (United States)

    ... 4 months later, my father walked me down the aisle. We danced to a Beatles song & then to j… Connect on Instagram Email: info@alportsyndrome.org Phone: (480) 800-3510 Mailing Address: Alport syndrome Foundation P.O. Box 4130 ... 5, 2017 Cecil Alport: Naming the Syndrome November 26, 2016 The Renal Diet: Potassium ...

  3. Adult onset Leigh syndrome

    Directory of Open Access Journals (Sweden)

    Pandit Lekha

    2007-01-01

    Full Text Available Leigh syndrome is a rare progressive mitochondrial disorder of oxidative metabolism. Though it has been reported in infancy and childhood, it is rarely described in adults. The authors describe a patient who had clinical and magnetic resonance imaging features diagnostic of Leigh syndrome, with supportive biochemical and muscle histochemistry evidence.

  4. Post-Polio Syndrome

    Science.gov (United States)

    ... You are here Home » Disorders » All Disorders Post-Polio Syndrome Information Page Post-Polio Syndrome Information Page What research is being done? ... behavior of motor neurons many years after a polio attack. Others are looking at the mechanisms of ...

  5. Klippel-Feil Syndrome

    Science.gov (United States)

    ... proteins that are involved in bone development and segmentation of the vertebrae. × Definition Klippel-Feil Syndrome is a rare disorder characterized ... proteins that are involved in bone development and segmentation of the vertebrae. View Full Definition ... Treatment Treatment for Klippel-Feil Syndrome is symptomatic ...

  6. 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.

  7. Beckwith-Wiedemann syndrome

    Science.gov (United States)

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  8. Middle East Respiratory Syndrome

    Centers for Disease Control (CDC) Podcasts

    2014-07-07

    This podcast discusses Middle East Respiratory Syndrome, or MERS, a viral respiratory illness caused by Middle East Respiratory Syndrome Coronavirus—MERS-CoV.  Created: 7/7/2014 by National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 7/7/2014.

  9. International Rett Syndrome Foundation

    Science.gov (United States)

    ... state Rett Syndrome Handbook Called the “Rett Syndrome Bible”, all the information you need for your journey- available in PDF version. Purchase a hard copy Get 1:1 Support Connect with our Family Empowerment Team , join a special interest network More forms of support Find your Family Empowerment ...

  10. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  11. Churg-strauss syndrome

    Directory of Open Access Journals (Sweden)

    Brar B

    2009-01-01

    Full Text Available We report a case of 29-year-old man who presented with cutaneous vasculitis and was subsequently diagnosed as a case of Churg-Strauss syndrome. The patient fulfilled five out of the six criteria of the syndrome developed by American College of Rheumatology.

  12. ACUTE COMPARTMENT SYNDROME

    African Journals Online (AJOL)

    muscle destruction, muscle fibrosis, contractures and permanent disability and at worst case scenario of amputation (3,4). As reported by Frink et al (3) on their study on acute compartment syndrome it can occur even when there is no fracture. Also general surgeons have reported acute compartment syndrome.

  13. 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.

  14. Shaken Baby Syndrome

    Science.gov (United States)

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  15. Korsakoff's syndrome is preventable

    NARCIS (Netherlands)

    Oudman, Erik; Wijnia, Jan W.

    2014-01-01

    Wernicke-Korsakoff syndrome (WKS) is a life-threatening neuropsychiatric disorder caused by thiamine (vitamin B1) deficiency. Wernicke-Korsakoff syndrome is associated with mammillary body edema and small vessel ischemia. Many patients who develop WKS have a history of serious alcoholism and

  16. Foix-Chavany syndrome

    International Nuclear Information System (INIS)

    Ferrari, G.; Boninsegna, C.; Beltramello, A.

    1979-01-01

    The Foix-Chavany syndrome is a neurological entity characterized by linguo-bucco-facial apraxia almost always caused by disturbed cerebral circulation. Three typical cases of this syndrome are described and the role of the CT scan to obtain a definite diagnosis is emphasized. (orig.) [de

  17. Usher syndrome in Denmark

    DEFF Research Database (Denmark)

    Shzeena, Dad; Rendtorff, Nanna Dahl; Tranebjærg, Lisbeth

    2016-01-01

    BACKGROUND: Usher syndrome (USH) is a genetically heterogeneous deafness-blindness syndrome, divided into three clinical subtypes: USH1, USH2 and USH3. METHODS: Mutations in 21 out of 26 investigated Danish unrelated individuals with USH were identified, using a combination of molecular diagnostic...

  18. Proteus syndrome in adulthood

    NARCIS (Netherlands)

    Muller, E; Lichtendahl, DHE; Hofer, SOP

    Proteus syndrome is a very rare congenital condition comprising malformations and overgrowth of multiple sorts of tissue. It was described for the first time in 1979 and was termed Proteus syndrome in 1983. The authors describe a 37-year-old patient who was diagnosed initially as having

  19. The stress ulcer syndrome

    NARCIS (Netherlands)

    H.A. van Essen

    1986-01-01

    textabstractThe stress ulcer syndrome is described in this thesis. This syndrome is seen in patients admitted to intensive care departments or being treated in field hospitals, in disaster areas, or battle fields. Acute mucosal lesions associated with burns (Curling's ulcers) and central nervous

  20. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  1. Colitis of Behcet's syndrome

    International Nuclear Information System (INIS)

    O'Connell, D.J.; Courtney, J.V.; Riddell, R.H.

    1980-01-01

    Three patients with Behcet's syndrome and colitis are described. The radiologic and histologic appearances of the colitis are discussed. The similarities of Behcet's colitis to Crohn's disease are outlined. The cases demonstrate the necessity to consider Behcet's syndrome in the differential diagnosis of inflammatory bowel disease. (orig.) [de

  2. Trigeminalt trofisk syndrom--

    DEFF Research Database (Denmark)

    Kjaerskov, Mette Wanscher; Bygum, Anette

    2009-01-01

    Trigeminal trophic syndrome (TTS) is a rare but well-described syndrome consisting of the triad: paraesthesia, anaesthesia and crescent-shaped ulceration of the ala nasi. We report a case of a 62-year-old woman presenting with TTS after operative excision of an acusticus neurinoma. She attended s...

  3. Polycystic ovarian syndrome

    OpenAIRE

    Nina Madnani; Kaleem Khan; Phulrenu Chauhan; Girish Parmar

    2013-01-01

    Polycystic ovarian syndrome (PCOS) is a "multispeciality" disorder suspected in patients with irregular menses and clinical signs of hyperandrogenism such as acne, seborrhoea, hirsutism, irregular menses, infertility, and alopecia. Recently, PCOS has been associated with the metabolic syndrome. Patients may develop obesity, insulin resistance, acanthosis nigricans, Type 2 diabetes, dyslipidemias, hypertension, non-alcoholic liver disease, and obstructive sleep apnoea. Good clinical examinatio...

  4. Rothmund - Thomson Syndrome

    Directory of Open Access Journals (Sweden)

    Sharma N. L

    2003-01-01

    Full Text Available Rothmund-Thomson syndrome is a rare geno-photodermatosis of children. Poikilodermatous cutaneous changes, growth retardation, juvenile cataract and high incidence of malignancy are its classical features. A Thomson type of Rothmund-Thomson syndrome with characteristic poikiloderma congenitale, growth retardation, absence of juvenile cataract and parental non-consanguinity is described in an 8 year old Indian girl.

  5. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

    Full Text Available A case of yellow nail syndrome is described in a forty year old male patient who presented with classical triad of this syndrome i.e. deformed yellow nails, lymph-edema and chronic recurrent pleural effusion. The practical problems in the di-agnosis are also briefly discussed with emphasis on awareness of this rare clinical entity.

  6. [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.

  7. Lumbar dorsal ramus syndrome.

    Science.gov (United States)

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.

  8. Heterogeneity in Waardenburg syndrome.

    Science.gov (United States)

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  9. Apert syndrome (acrocephalosyndactyly

    Directory of Open Access Journals (Sweden)

    Milovanović J.

    2014-01-01

    Full Text Available Apert syndrome is named for the French physician, Eugen Apert who was, in 1906. described anomalous shape of the skull with coronary suture synostosis and hypoplasia sphenoethmoidmaxillary part of the face and fingers syndactyly of hands and feet. Apert syndrome accounts for about 4,5% of all craniosynostosis. With the prevalence of 1:160 000-200 000, inherited in an autosomal domi­nant, and in 25% of cases are fresh mutations in the gene. This syndrome has no predilection by gender and race, varies in severity form in witch it is manifested. Anomality of internal organs are very rare, but half of the patients with this syndrome have mental retardation. Apert syndrome has no cure, but surgery can help to correct some of the problems.

  10. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

    Parkash, J.; Salat, S. M.; Khan, I.A.

    2006-01-01

    A pre-term baby girl was born following a pregnancy complicated by severe polyhydramnios at a gestational age of 36 weeks. She was initially suffering from respiratory distress consistent with idiopathic respiratory distress syndrome, and altered electrolyte imbalance with hyponatremia, hypokalemia and hypochloremic metabolic alkalosis. However, during the third week of life when she had dehydration along with significant electrolyte imbalance, Bartter's syndrome was considered which was supported by findings of high renin and aldosterone levels. Treatment was done by correction of electrolytes and dehydration along with indomethacin. The drug was well tolerated. The infant showed correction of electrolyte imbalance. The features of this case suggest an extreme form of Bartter's syndrome presenting from the early days of life. The syndrome is reported because of it's rarity and alerts pediatricians to the antenatal and neonatal variant of Bartter's syndrome. (author)

  11. Extended MRI findings of intersection syndrome

    International Nuclear Information System (INIS)

    Lee, Roger P.; Hatem, Stephen F.; Recht, Michael P.

    2009-01-01

    The symptoms and physical findings of intersection syndrome have been well described in the clinical medical literature. However, the magnetic resonance imaging (MRI) findings in patients with intersection syndrome of the forearm have only recently been described in a small number of patients. We review our experience with imaging of intersection syndrome, describe previously unreported MRI findings, and emphasize modifications to MRI protocols for its evaluation. Institutional review board approval was obtained for this retrospective review of patients with MRI findings consistent with intersection syndrome of the forearm during the period from January 2004 to September 2006. Six patients were identified, three males and three females, with an average age of 39.3 years. The MRI examinations were reviewed to assess signal abnormalities within and adjacent to the first and second dorsal extensor tendon compartments (DETC): tendinosis, peritendinous edema or fluid, muscle edema, subcutaneous edema, and juxtacortical edema. The overall longitudinal extent of signal alterations was measured as well as the distance from Lister's tubercle to the crossover of the first and second DETC. Review of the MRIs showed increased intrasubstance tendon signal suggesting tendinosis in two of the six patients, peritendinous edema or fluid in all six patients, muscle edema in five of the six patients, and subcutaneous edema in three of the six patients. Juxtacortical edema was seen in one patient. Peritendinous edema or fluid extended distally beyond the radiocarpal joint in three of the six patients. The average distance from Lister's tubercle to the crossover of the first and second DETC was 3.95 cm, in keeping with recently published data. Intersection syndrome is an uncommon MRI diagnosis. In addition to the previously described MRI findings of edema adjacent to the first or second DETC, possibly with proximal extension and subcutaneous edema, we have identified additional

  12. Spontaneous Cervical Intradural Disc Herniation Associated with Ossification of Posterior Longitudinal Ligament

    Directory of Open Access Journals (Sweden)

    Dachuan Wang

    2014-01-01

    Full Text Available Intradural herniation of a cervical disc is rare; less than 35 cases have been reported to date. A 52-year-old man with preexisting ossification of posterior longitudinal ligament developed severe neck pain with Lt hemiparesis while asleep. Neurological exam was consistent with Brown-Séquard syndrome. Magnetic resonance images showed a C5-6 herniated disc that was adjacent to the ossified ligament and indenting the cord. The mass was surrounded by cerebrospinal fluid signal intensity margin, and caudally the ventral dura line appears divided into two, consistent with the “Y-sign” described by Sasaji et al. Cord edema were noted. Because of preexisting canal stenosis and spinal cord at risk, a laminoplasty was performed, followed by an anterior C6 corpectomy. Spot-weld type adhesions of the posterior longitudinal ligament to the dura was noted, along with a longitudinal tear in the dura. An intradural extra-arachnoid fragment of herniated disc was removed. Clinical exam at 6 months after surgery revealed normal muscle strength but persistent mild paresthesias. It is difficult to make a definite diagnosis of intradural herniation preoperatively; however, the clinical findings and radiographic signs mentioned above are suggestive and should alert the surgeon to look for an intradural fragment.

  13. Syndrome in question: Gorlin-Goltz syndrome.

    Science.gov (United States)

    Ribeiro, Pauline Lyrio; Souza, João Basílio de; Abreu, Karina Demoner de; Brezinscki, Marisa Simon; Pignaton, Christine Chambo

    2016-01-01

    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

  14. [Asthenic syndrome in patients with burnout syndrome].

    Science.gov (United States)

    Chutko, L S; Surushkina, S Iu; Rozhkova, A V; Nikishena, I S; Iakovenko, E A

    2013-01-01

    The authors present the results of a survey of 103 patients aged 25 to 45 years with burnout syndrom. The results showed that most patients with the syndrome of burnout have clinical manifestations of asthenia, varying degrees of severity. According to psychological and psychophysiological examination in this group of patients were found attention and memory dysfunction. This study evaluated the efficacy of memoplant in the treatment of this pathology. The high efficiency of memoplant (improvement in 69.7% of cases) was detected, confirmed by the data of the clinical, psychological and neuropsychological research.

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

    Science.gov (United States)

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

    2009-02-01

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

  16. Phenotype Development in Adolescents With Tourette Syndrome

    DEFF Research Database (Denmark)

    Groth, Camilla; Debes, Nanette Mol; Skov, Liselotte

    2017-01-01

    Tourette syndrome (TS) is a neurodevelopmental disorder characterized by frequent comorbidities and a wide spectrum of phenotype presentations. This study aimed to describe the development of phenotypes in TS and tic-related impairment in a large longitudinal study of 226 children and adolescents...... followed up after 6 years. The participants were clinically examined to assess tic severity and impairment, obsessive compulsive disorder (OCD), and attention-deficit/hyperactivity disorder (ADHD). The development in phenotypes changed toward less comorbidity with 40% TS-only (no OCD or ADHD) (TS without...... OCD or ADHD) at baseline and 55% at follow-up.Tic-related impairment was expected to improve with an age-related tic decline, but surprisingly the impairment score did not reflect the tic decline. Sex, vocal and motor tics, and OCD and ADHD severity were highly significantly correlated...

  17. Collaborative Knowledge-Building: A Longitudinal Study

    Science.gov (United States)

    Li, Qing

    2009-01-01

    The focus of this paper is on knowledge-building in a technology-supported learning environment in higher education through a longitudinal study of a graduate course from 2003 to 2007. The primary question is: how do learning conditions designed into a graduate course contribute to collaborative knowledge building? In particular, two major…

  18. Are Sibling Relationships Protective? A Longitudinal Study

    Science.gov (United States)

    Gass, Krista; Jenkins, Jennifer; Dunn, Judy

    2007-01-01

    Background: Although the protective effects of familial and parental support have been studied extensively in the child psychopathology literature, few studies have explored the protective quality of positive sibling relationships. Methods: A two-wave longitudinal design was used to examine the protective effect of positive sibling relationships…

  19. Advection models of longitudinal dispersion in rivers

    NARCIS (Netherlands)

    Kranenburg, C.

    1996-01-01

    A derivation is presented of a general cross-section averaged model of longitudinal dispersion, which is based on the notion of the advection of tracer particles. Particle displacement length and particle travel time are conceived as stochastic variables, and a joint probability density function is

  20. The Czech longitudinal study of optimal development

    Czech Academy of Sciences Publication Activity Database

    Kebza, V.; Šolcová, Iva; Kodl, M.; Kernová, V.

    2012-01-01

    Roč. 47, Suppl. 1 (2012), s. 266-266 ISSN 0020-7594. [International Congress of Psychology /30./. 22.07.2012-27.07.2012, Cape Town] R&D Projects: GA ČR GAP407/10/2410 Institutional support: RVO:68081740 Keywords : optimal development * Prague longitudinal study Subject RIV: AN - Psychology