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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    unpublished family is also described with a novel mutation in CRLF1, c.605delC (p.Ala202Valfs*32).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. PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME.

    Science.gov (United States)

    Rafiq, Mahmood; Almasry, Shadi; Abdulrahman, Anas; Al-Sohabani, Mazen; Tobias, Joseph D

    2016-06-01

    Crisponi syndrome is an autosomal recessive disorder characterized by intermittent episodes of muscular contraction of the facial muscles with trismus and excessive salivation simulating a tetanic spasm. These episodes occur in response to tactile stimulation or during crying. Associated physical and constitutional findings include characteristic facial anomalies, camptodactyly, intermittent hyperthermia, and feeding difficulties. We present a 15-month-old girl who required anesthetic care during laparoscopic fundoplication and gastric tube insertion. The perioperative implications of the disorder are reviewed and suggestions for anesthetic management provided.

  3. Corneal alterations in Crisponi/CISS1 syndrome: A slit-lamp biomicroscopy and in vivo confocal microscopy corneal report.

    Science.gov (United States)

    Agresta, Antonio; Fasciani, Romina; Padua, Luca; Petroni, Sergio; La Torraca, Ilaria; Dickmann, Anna; Zampino, Giuseppe; Caporossi, Aldo

    2017-01-01

    Mutations in the cytokine receptor-like factor 1 (CRLF1) gene are responsible for Crisponi/Cold-induced Sweat Syndrome, an extremely rare autosomal-recessive multisystem disorder. The protein encoded is a soluble cytokine receptor, involved in the ciliary neurotrophic factor receptor (CNTFR) pathway. The ciliary neurotrophic factor (CNTF) promotes corneal wound healing and patients with Crisponi/CISS1 syndrome suffer from recurrent keratitis. The aim of the study was to report and discuss the corneal alterations in Crisponi/CISS1 rare disease. We evaluated the cornea of both eyes in four Crisponi/CISS1 patients to provide a detailed description of slit-lamp biomicroscopy findings. Corneal sensitivity, tears functionality and blinking video recording at rest were also assessed in all patients. Two patients were also evaluated with in vivo confocal microscopy, completed with a needle electromyography of their orbicularis muscles. None of the patients presented a tears dysfunction and video recording documented a prolonged lid excursion in all patients. Slit lamp examination revealed a chronic epithelial impairment in all cases. Needle electromyography of the orbicularis oculi showed a dystonic pattern. The confocal microscopy confirmed the biomicroscopic observed lesions and documented unusual findings of the corneal nerve plexus. This is the first report of microscopic cornea alterations explored with confocal imaging in Crisponi/CISS1 patients. The observed corneal findings suggest a possible direct correlation to the CNTFR pathway defect and the blinking imbalance could exacerbate the compromised epithelial wound healing. Topical administrations of lubricating eye drops are strongly recommended in these patients.

  4. Molecular and genetic characterization, clinical evaluation and pilot study to assess the feasibility of a carrier screening for Crisponi syndrome in Sardinia

    OpenAIRE

    Piras, Roberta

    2013-01-01

    Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia, associated with death in most cases in the first years of life. Functional and clinical studies supported the fact that they represent manifestations of the same autosomal recessive disorder caused by mutations in the...

  5. 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.).

  6. Longitudinal Trajectories of Aberrant Behavior in Fragile X Syndrome

    OpenAIRE

    Hustyi, Kristin M; Hall, Scott S.; Jo, Booil; Lightbody, Amy A; Reiss, Allan L.

    2014-01-01

    The Aberrant Behavior Checklist—Community (ABC-C; Aman, Burrow, & Wolford, 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 ...

  7. Longitudinal profiles of adaptive behavior in fragile X syndrome.

    Science.gov (United States)

    Klaiman, Cheryl; Quintin, Eve-Marie; Jo, Booil; Lightbody, Amy A; Hazlett, Heather Cody; Piven, Joseph; Hall, Scott S; Chromik, Lindsay C; Reiss, Allan L

    2014-08-01

    To examine longitudinally the adaptive behavior patterns in fragile X syndrome. 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. 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. 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. Copyright © 2014 by the American Academy of Pediatrics.

  8. Rett Syndrome: A Longitudinal Developmental Case Report.

    Science.gov (United States)

    Garber, Norman; Veydt, Nicole

    1990-01-01

    The clinical course of development of a 14-year-old girl with Rett Syndrome is outlined. Results indicated a general stagnation in gross and fine motor skills, self-help skills, communication, and cognition, beginning at approximately 15 months. No skills progressed beyond the 2-year level despite several years of intensive intervention.…

  9. Emotion recognition by children with Down syndrome: a longitudinal study.

    Science.gov (United States)

    Pochon, Régis; Declercq, Christelle

    2013-12-01

    According to the literature, children with Down syndrome (DS) have difficulties recognising facial expressions. Yet abilities to recognise emotional expressions are often assessed in tasks that imply comprehension of words for emotions. We investigated the development of these abilities in children with DS in a longitudinal study that did not involve lexical knowledge of emotions. Children with DS and nonspecific intellectual disability and typically developing children matched for developmental age (DA) were assessed once a year over 3 years. They were asked to recognise the facial expression of an emotion after hearing a vocalisation. In each annual session, children with DS were not significantly different from others at recognising emotions. Their abilities to discriminate basic emotions improved significantly and to a similar extent to those of other children. The findings indicate that children with DS develop emotion recognition abilities similarly to other children of the same DA.

  10. Longitudinal trajectories of aberrant behavior in fragile X syndrome.

    Science.gov (United States)

    Hustyi, Kristin M; Hall, Scott S; Jo, Booil; Lightbody, Amy A; Reiss, Allan L

    2014-11-01

    The Aberrant Behavior Checklist-Community (ABC-C; Aman et al., 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 males, 60 females) with FXS who had two or more assessments (average interval between assessments was approximately 4 years). Concomitant changes in age-equivalent scores on the Vineland Adaptive Behavior Scales (VABS) were also examined. As expected for an X-linked genetic disorder, males with FXS obtained significantly higher scores on all subscales of the ABC-C and significantly lower age-equivalent scores on the VABS than females with FXS. In both males and females with FXS, scores on the Irritability/Agitation and Hyperactivity/Noncompliance subscales of the ABC-C decreased significantly with age, with little to no change occurring over time on the Lethargy/Social Withdrawal, Stereotypic Behavior, and Inappropriate Speech subscales. The decrease in scores on the Hyperactivity/Noncompliance domain was significantly greater for males than for females. In both males and females, age-equivalent scores on the VABS increased significantly over this developmental period. These results establish a basis upon which to evaluate long-term outcomes from intervention-based research. However, longitudinal direct observational studies are needed to establish whether the severity of problem behavior actually decreases over time in this population.

  11. Longitudinal Trajectories of Aberrant Behavior in Fragile X Syndrome

    Science.gov (United States)

    Hustyi, Kristin M.; Hall, Scott S.; Jo, Booil; Lightbody, Amy A.; Reiss, Allan L.

    2016-01-01

    The Aberrant Behavior Checklist—Community (ABC-C; Aman, Burrow, & Wolford, 1995) has been increasingly adopted as a primary tool for measuring behavioral change in clinical trials for individuals with fragile X syndrome (FXS). To our knowledge, however, no study has documented the longitudinal trajectory of aberrant behaviors in individuals with FXS using the ABC-C. As part of a larger longitudinal study, we examined scores obtained on the ABC-C subscales for 124 children and adolescents (64 males, 60 females) with FXS who had two or more assessments (average interval between assessments was approximately 4 years). Concomitant changes in age-equivalent scores on the Vineland Adaptive Behavior Scales (VABS) were also examined. As expected for an X-linked genetic disorder, males with FXS obtained significantly higher scores on all subscales of the ABC-C and significantly lower age-equivalent scores on the VABS than females with FXS. In both males and females with FXS, scores on the Irritability/Agitation and Hyperactivity/Noncompliance subscales of the ABC-C decreased significantly with age, with little to no change occurring over time on the Lethargy/Social Withdrawal, Stereotypic Behavior, and Inappropriate Speech subscales. The decrease in scores on the Hyperactivity/Noncompliance domain was significantly greater for males than for females. In both males and females, age-equivalent scores on the VABS increased significantly over this developmental period. These results establish a basis upon which to evaluate long-term outcomes from intervention-based research. However, longitudinal direct observational studies are needed to establish whether the severity of problem behavior actually decreases over time in this population. PMID:25129200

  12. Longitudinal measurement invariance of the metabolic syndrome: is the assessment of the metabolic syndrome stable over time?

    Science.gov (United States)

    Barbosa-Leiker, Celestina; Wright, Bruce R; Burns, G Leonard; Parks, Craig D; Strand, Paul S

    2011-02-01

    Without verification of longitudinal measurement invariance, researchers cannot be certain whether observed change in the metabolic syndrome reflects true change or changes in assessment or structure of the construct over time. This research tested longitudinal measurement invariance of a 1-factor model of the metabolic syndrome during the course of 6 years. Tests of longitudinal measurement invariance (configural, metric, and scalar) were conducted on 604 men and women who participated in the Spokane Heart Study from 1996 to 2006. Metabolic syndrome indicators included body mass index, triglycerides, high-density lipoprotein, diastolic blood pressure, and fasting glucose. Sequential configural and metric invariance models demonstrated adequate model fit, but the scalar invariance model led to a decrement in fit. Therefore, the theoretical framework of the syndrome and the relationships between the syndrome construct and the indicators appear to be equivalent over time. However, observed values of the metabolic syndrome indicators may differ across time when there is a constant level of the syndrome. Because longitudinal invariance was not fully demonstrated, interpretation of change in the metabolic syndrome over time may be misleading because change may be partly attributable to measurement properties of the indicators. However, a cross-sectional 1-factor model of the metabolic syndrome is supported. Copyright © 2011 Elsevier Inc. All rights reserved.

  13. Ovarian function and reproductive hormone levels in girls with prader-willi syndrome: a longitudinal study.

    NARCIS (Netherlands)

    Siemensma, E.P.; Alfen-van der Velden, J. van; Otten, B.J.; Laven, J.S.E.; Hokken-Koelega, A.C.

    2012-01-01

    Context: The etiology of hypogonadism in girls with Prader-Willi syndrome (PWS) remains uncertain. Objectives: The aim of the study was to evaluate gonadal function longitudinally in girls and female adolescents with PWS. Measurements: We performed a longitudinal assessment of anti-Mullerian hormone

  14. A Longitudinal Study of Narrative Development in Children and Adolescents with Down Syndrome

    Science.gov (United States)

    Cleave, Patricia; Bird, Elizabeth Kay-Raining; Czutrin, Rachael; Smith, Lindsey

    2012-01-01

    The present study examined narrative development in children and adolescents with Down syndrome longitudinally. Narratives were collected from 32 children and adolescents with Down syndrome three times over a 1-year period. Both micro- and macrolevel analyses were conducted. Significant growth over the 1-year period was seen in semantic complexity…

  15. A Longitudinal Study of Narrative Development in Children and Adolescents with Down Syndrome

    Science.gov (United States)

    Cleave, Patricia; Bird, Elizabeth Kay-Raining; Czutrin, Rachael; Smith, Lindsey

    2012-01-01

    The present study examined narrative development in children and adolescents with Down syndrome longitudinally. Narratives were collected from 32 children and adolescents with Down syndrome three times over a 1-year period. Both micro- and macrolevel analyses were conducted. Significant growth over the 1-year period was seen in semantic complexity…

  16. Normal ageing in adults with Down's syndrome: a longitudinal study.

    Science.gov (United States)

    Devenny, D A; Silverman, W P; Hill, A L; Jenkins, E; Sersen, E A; Wisniewski, K E

    1996-06-01

    The ubiquitous presence of the neuropathology of Alzheimer disease (AD) in individuals with Down's syndrome (DS) over 40 years of age suggests that this group of people will exhibit a high prevalence of dementia of the Alzheimer type (DAT) as they age. The present study indicates that there is a clear discrepancy between the presumed presence of AD neuropathology and the clinical expression of DAT among older people with DS. In the first 6 years of a longitudinal study, the present authors compared 91 adults (31-63 years of age) with DS and mild or moderate mental retardation to 64 adults (31-76 years of age) with other forms of mental retardation (MR) on yearly measures of mental status, short- and long-term memory, speeded psychomotor function, and visuospatial organization. The results indicated that, over repeated testing on the verbal long-term memory test, younger participants with DS showed small increases in their scores, while older participants with DS showed very slight decreases. Overall performance scores on this test and a speeded psychomotor task were poorer for both diagnostic groups in individuals aged 50 years and older. The magnitude and type of these selective changes in performance were consistent with performance profiles observed in older healthy adults without mental retardation on tests measuring similar cognitive functions. Only four out of the 91 people with DS in the present sample showed changes in functioning that have led to a diagnosis of possible DAT, and in these individuals, alternative causes of performance declines were concurrently present (e.g. thyroid dysfunction). These findings indicate that some age-associated changes in functioning are related to "normal' but probably precocious ageing among adults with DS. Furthermore, these findings suggest that adults with DS and mild or moderate mental retardation may be at lower risk for dementia during their fourth and fifth decades of life than previous studies have suggested.

  17. Intellectual development in Noonan syndrome: a longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermuhle, E.; Kessels, R.P.C.; Egger, J.I.

    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, a

  18. Intellectual development in Noonan syndrome: a longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermuhle, E.; Kessels, R.P.C.; Egger, J.I.

    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, a

  19. Longitudinal relationships between language and verbal short-term memory skills in children with Down syndrome.

    Science.gov (United States)

    Næss, Kari-Anne B; Lervåg, Arne; Lyster, Solveig-Alma Halaas; Hulme, Charles

    2015-07-01

    Children with Down syndrome are at risk for language difficulties, the nature of which is not well understood. This study compared the longitudinal predictors of language skills in children with Down syndrome with those in typically developing control children matched for initial level of nonverbal mental ability. An age cohort of children with Down syndrome (n=43) and 57 typically developing control children was assessed on measures of vocabulary, grammar, and verbal short-term memory three times at yearly intervals. Children with Down syndrome showed slower development on all measures than the typically developing controls. Longitudinal analyses showed moderate to high stability of language and verbal short-term memory skills. Our results confirm earlier evidence of pervasive language learning difficulties in this group and suggest that early language intervention should be given high priority. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. 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.

  1. Longitudinal Evaluation of the Psychomotor Syndrome in Schizophrenia

    NARCIS (Netherlands)

    Docx, L.; Sabbe, B.G.C.; Fransen, E.; Bervoets, C.; Hulstijn, W.; Bossche, M.J.A. Van Den; Vermeylen, S.; Temmerman, A.; Morsel, A.M.; Morrens, M.

    2014-01-01

    Little is known about the longitudinal course of psychomotor signs and symptoms after illness onset in schizophrenia. Therefore, a 1-year follow-up study was conducted in which patients with schizophrenia were assessed three times with an extensive battery of psychomotor rating scales and tests. The

  2. Individual and Environmental Characteristics Associated with Cognitive Development in Down Syndrome: A Longitudinal Study

    Science.gov (United States)

    Couzens, Donna; Haynes, Michele; Cuskelly, Monica

    2012-01-01

    Background: Associations among cognitive development and intrapersonal and environmental characteristics were investigated for 89 longitudinal study participants with Down syndrome to understand developmental patterns associated with cognitive strengths and weaknesses. Materials and Methods: Subtest scores of the Stanford-Binet IV collected…

  3. Individual and Environmental Characteristics Associated with Cognitive Development in Down Syndrome: A Longitudinal Study

    Science.gov (United States)

    Couzens, Donna; Haynes, Michele; Cuskelly, Monica

    2012-01-01

    Background: Associations among cognitive development and intrapersonal and environmental characteristics were investigated for 89 longitudinal study participants with Down syndrome to understand developmental patterns associated with cognitive strengths and weaknesses. Materials and Methods: Subtest scores of the Stanford-Binet IV collected…

  4. Exceptional Rule Learning in a Longitudinal Case Study of Williams Syndrome: Acquisition of Past Tense

    Science.gov (United States)

    Jacobson, Peggy F.; Cairns, Helen Smith

    2010-01-01

    Conflicting reports of language ability in Williams syndrome (WS) are confusing and may hinder accurate clinical decisions with respect to therapeutic services and educational placements for children with WS.This longitudinal case study examined the acquisition of regular and irregular past tense verbs in a child with WS. The development of…

  5. 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…

  6. Longitudinal cerebellar diffusion tensor imaging changes in posterior fossa syndrome

    Directory of Open Access Journals (Sweden)

    Sean D. McEvoy, MD

    2016-01-01

    Full Text Available Posterior fossa syndrome is a severe transient loss of language that frequently complicates resection of tumors of the cerebellum. The associated pathophysiology and relevant anatomy to this language deficit remains controversial. We performed a retrospective analysis of all cerebellar tumor resections at Seattle Children's Hospital from 2010 to 2015. Diffusion tensor imaging was performed on each of the patients as part of their clinical scan. Patients included in the study were divided into groups based on language functioning following resection: intact (N = 19, mild deficit (N = 19, and posterior fossa syndrome (N = 9. Patients with posterior fossa syndrome showed white matter changes evidenced by reductions in fractional anisotropy in the left and right superior cerebellar peduncle following resection, and these changes were still evident 1-year after surgery. These changes were greater in the superior cerebellar peduncle than elsewhere in the cerebellum. Prior to surgery, posterior fossa patients did not show changes in fractional anisotropy however differences were observed in mean and radial diffusivity measures in comparison to other groups which may provide a radiographic marker of those at greatest risk of developing post-operative language loss.

  7. 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

    ). There was no correlation between medial longitudinal-arch deformation during quiet standing and gait in either of the 2 groups (r .653). The subjects with medial tibial stress syndrome in this study demonstrated increased navicular drop and medial longitudinal-arch deformation during quiet standing......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 deformation during quiet standing and gait. Thirty subjects aged 20 to 32 years were included (15 with medial tibial stress syndrome and 15 controls). Navicular drop and medial longitudinal-arch deformation were measured during quiet standing with neutral and loaded foot using a ruler and digital photography...

  8. 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.

  9. 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.

  10. A Longitudinal Examination of the Psychoeducational, Neurocognitive, and Psychiatric Functioning in Children with 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Hooper, Stephen R.; Curtiss, Kathleen; Schoch, Kelly; Keshavan, Matcheri S.; Allen, Andrew; Shashi, Vandana

    2013-01-01

    The present study sought to examine the longitudinal psychoeducational, neurocognitive, and psychiatric outcomes of children and adolescents with chromosome 22q11.2 deletion syndrome (22q11DS), a population with a high incidence of major psychiatric illnesses appearing in late adolescence/early adulthood. Little is known of the developmental…

  11. A Longitudinal Relationship Between Depressive Symptoms and Development of Metabolic Syndrome: The Coronary Artery Risk Development in Young Adults Study.

    Science.gov (United States)

    Womack, Veronica Y; De Chavez, Peter John; Albrecht, Sandra S; Durant, Nefertiti; Loucks, Eric B; Puterman, Eli; Redmond, Nicole; Siddique, Juned; Williams, David R; Carnethon, Mercedes R

    2016-09-01

    Despite variability in the burden of elevated depressive symptoms by sex and race and differences in the incidence of metabolic syndrome, few prior studies describe the longitudinal association of depressive symptoms with metabolic syndrome in a diverse cohort. We tested whether baseline and time-varying depressive symptoms were associated with metabolic syndrome incidence in black and white men and women from the Coronary Artery Risk Development in Young Adults study. Participants reported depressive symptoms using the Center for Epidemiologic Studies Depression Scale at four examinations between 1995 and 2010. At those same examinations, metabolic syndrome was determined. Cox proportional hazards models were used to examine the associations of depressive symptoms on the development of metabolic syndrome in 3208 participants without metabolic syndrome at baseline. For 15 years, the incidence rate of metabolic syndrome (per 10,000 person-years) varied by race and sex, with the highest rate in black women (279.2), followed by white men (241.9), black men (204.4), and white women (125.3). Depressive symptoms (per standard deviation higher) were associated with incident metabolic syndrome in white men (hazard ratio = 1.25, 95% confidence interval = 1.08-1.45) and white women (hazard ratio = 1.17, 95% confidence interval = 1.00-1.37) after adjustment for demographic characteristics and health behaviors. There was no significant association between depression and metabolic syndrome among black men or black women. Higher depressive symptoms contribute modestly to the onset of metabolic syndrome among white adults.

  12. Longitudinal relationships of metabolic syndrome and obesity with kidney function: Healthy Twin Study.

    Science.gov (United States)

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

    2015-10-01

    To examine cross-sectional and longitudinal relationships, including genetic and environmental correlations, of metabolic syndrome (MetS) and obesity with kidney function. Subjects were 3,437 Korean adults of the Healthy Twin Study for cross-sectional relationships and 1,881 participants for longitudinal relationships (follow-up interval 3.7 ± 1.4 years). Obesity (body mass index ≥ 25 vs. obesity and MetS, prevalent CKD was associated with MetS regardless of weight status [adjusted odds ratio (AOR) 4.19 for those with MetS but without obesity; AOR 4.63 for those with MetS and obesity]. Incident CKD was associated with obesity regardless of baseline metabolic status (AOR 2.03 for those with obesity but without MetS; AOR 2.85 for those with obesity and MetS). MetS at follow-up was associated with incident CKD regardless of baseline MetS (AOR 2.42-2.52). Sex-adjusted bivariate analyses show inverse environmental correlations of the number of MetS components and BMI at baseline, with eGFR at baseline and follow-up (ρ E, -0.26 to -0.42, P obesity, and obesity predicts incident CKD regardless of baseline MetS. Incident CKD is also associated with MetS at follow-up regardless of baseline MetS. These associations appear to be explained by shared environmental factors.

  13. The association between gallstones and metabolic syndrome in urban Han Chinese: a longitudinal cohort study

    Science.gov (United States)

    Zhu, Qian; Sun, Xiubin; Ji, Xiaokang; Zhu, Lin; Xu, Jing; Wang, Chunxia; Zhang, Chengqi; Xue, Fuzhong; Liu, Yanxun

    2016-01-01

    The precise association between metabolic syndrome (MetS) and gallstone disease remains unclear in China. This study aimed to clarify the relationship between MetS and gallstone and evaluate whether counts of metabolic abnormalities had influence on gallstone disease. We fitted gender-specific generalized estimating equation (GEE) regression models with data from a large-scale longitudinal study over 6-year follow-up to elucidate the real association. This study included 18291 participants with 3 times repeated measures at least who were free from a prior history of gallstone disease and cholecystectomy. A total of 873 cases of gallstones occurred during 6-year follow-up. The incidence density of gallstone in the group of subjects with MetS was higher than the group without MetS (10.27 vs 5.79). The GEE analyses confirmed and clarified the association between MetS and gallstone disease in males (RR = 1.33, P = 0.0020), while this association was not significant in females (RR = 1.15, P = 0.4962). With numbers of metabolic syndrome components increasing, the risk of gallstone disease showed corresponding increasing in males. In conclusion, the associations of MetS and gallstone are different in males and in females. And the risk of gallstone disease increases with the number of components of MetS for males but not for females. PMID:27443986

  14. Telomere longitudinal shortening as a biomarker for dementia status of adults with Down syndrome.

    Science.gov (United States)

    Jenkins, Edmund C; Ye, Lingling; Krinsky-McHale, Sharon J; Zigman, Warren B; Schupf, Nicole; Silverman, Wayne P

    2016-03-01

    Previous studies have suggested that Alzheimer's disease (AD) causes an accelerated shortening of telomeres, the ends of chromosomes consisting of highly conserved TTAGGG repeats that, because of unidirectional 5'-3' DNA synthesis, lose end point material with each cell division. Our own previous work suggested that telomere length of T-lymphocytes might be a remarkably accurate biomarker for "mild cognitive impairment" in adults with Down syndrome (MCI-DS), a population at dramatically high risk for AD. To verify that the progression of cognitive and functional losses due to AD produced this observed telomere shortening, we have now examined sequential changes in telomere length in five individuals with Down syndrome (3F, 2M) as they transitioned from preclinical AD to MCI-DS (N = 4) or dementia (N = 1). As in our previous studies, we used PNA (peptide nucleic acid) probes for telomeres and the chromosome 2 centromere (as an "internal standard" expected to be unaffected by aging or dementia status), with samples from the same individuals now collected prior to and following development of MCI-DS or dementia. Consistent shortening of telomere length was observed over time. Further comparisons with our previous cross-sectional findings indicated that telomere lengths prior to clinical decline were similar to those of other adults with Down syndrome (DS) who have not experienced clinical decline while telomere lengths following transition to MCI-DS or dementia in the current study were comparable to those of other adults with DS who have developed MCI-DS or dementia. Taken together, findings indicate that telomere length has significant promise as a biomarker of clinical progression of AD for adults with DS, and further longitudinal studies of a larger sample of individuals with DS are clearly warranted to validate these findings and determine if and how factors affecting AD risk also influence these measures of telomere length.

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

    Science.gov (United States)

    Balk, Lisanne; Hoekstra, Trynke; 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 coffee consumption and the components of the metabolic syndrome. Prospective data from the Amsterdam Growth and Health Longitudinal Study (AGAHLS) is used to analyse the associations between coffee consumption (averaged over a period from 27 till 42 years) and the components of the metabolic syndrome (at the age of 42 years). This was done by linear regression analyses and associations were adjusted for physical activity, energy intake, alcohol consumption and smoking behaviour. The results showed that moderate and high (>2 cups/day) coffee consumption was significantly associated with lower HDL in women. For men, coffee consumption was not associated with any of the components of the metabolic syndrome.

  16. Longitudinal trajectories of cortical thickness as a biomarker for psychosis in individuals with 22q11.2 deletion syndrome.

    Science.gov (United States)

    Ramanathan, Seetha; Mattiaccio, Leah M; Coman, Ioana L; Botti, Jo-Anna C; Fremont, Wanda; Faraone, Stephen V; Antshel, Kevin M; Kates, Wendy R

    2016-12-14

    22q11.2 deletion syndrome (DS) or velo-cardio-facial syndrome (VCFS) is a genetic condition that has been identified as the highest genetic risk factor for developing psychotic illnesses. This unique biological nature of 22q11DS provides a valuable opportunity to explore predictive biomarkers of psychosis. In this study, we examined the relationship of cortical thickness and surface area between various brain regions and prodromal symptoms of psychosis. 75 probands with 22q11DS, 32 age-matched controls and 28 siblings underwent MRIs over 2 or 3 timepoints. Longitudinal mixed model regression analyses, with age as an interaction variable, were carried out to study the differences in longitudinal trajectories of change in average cortical thickness and surface area over 6-9years. Similar analyses were carried out to examine the relationship with positive prodromal symptoms of psychosis. Significant differences were noted in the inferior and superior parietal regions in both the average thickness and longitudinal change in cortical thickness with age between the probands and controls. Significant associations were also noted between regions in the frontal cortex and positive prodromal symptoms among probands. No associations were noted with cortical surface area. Our results indicate that individuals with 22q11DS who develop positive prodromal symptoms demonstrate differential longitudinal trajectories of cortical thickness in some regions of the frontal lobe. Our results suggest that the pruning stage associated with adolescent brain development may be disrupted. Copyright © 2016. Published by Elsevier B.V.

  17. Longitudinal Changes in Liver Aminotransferases Predict Metabolic Syndrome in Chinese Patients with Nonviral Hepatitis

    Institute of Scientific and Technical Information of China (English)

    CHEN Qi Cai; XIAO Juan; ZHANG Peng Peng; CHEN Li Li; CHEN Xiao Xiao; WANG Shu Mei

    2016-01-01

    ObjectiveThis study exploredthe correlation of longitudinal changes in serumalanine aminotransferase (ALT) and aspartate aminotransferase (AST)levels with the incidence of metabolic syndrome (Mets)based on a dynamic health examination cohort. MethodsA Mets-free dynamic cohortinvolving 4541 participants who underwent at leastthree health examinations from 2006 to 2011 was included in the study. Mets was defined according to the Chinese Medical Association Diabetes Branch definitionthat included hypertension, obesity, hyperlipidemia, and hyperglycemia. Generalized estimating equation (GEE) model was used to analyze multivariate relative risk (RR) of repeated observations ofALT and AST in quartiles for Mets or its components according to gender. ResultsIn all, 826Mets cases were reported. Adjustmentof relevant parameters indicated that time-varyingchanges in ALT and ASTlevels were positively associated with the incidenceof Mets in a dose-response manner. Positive association between high ALT levels and fatty liver was much stronger than that between high AST levels and fatty liver, particularly in maleparticipants. These associations were consistently observed in the following subgroups: participants with ALT and ASTlevels of ConclusionThese results suggested that elevated serum ALT and AST levels wereearly biomarkers of Mets or its components.

  18. Metabolic syndrome and discrepancy between actual and self-identified good weight: Aerobics Center Longitudinal Study.

    Science.gov (United States)

    Wirth, Michael D; Blake, Christine E; Hébert, James R; Sui, Xuemei; Blair, Steven N

    2015-03-01

    This study examined whether the discrepancy between measured and self-identified good weight (weight discrepancy) predicts metabolic syndrome (MetSyn). This study included 6,413 participants enrolled in the Aerobics Center Longitudinal Study (mean follow-up: 4.8±3.8 years). Weight discrepancy was defined as measured weight minus self-identified good weight. MetSyn was defined using standard definitions. Hazard ratios (HRs) and 95% confidence intervals (95% CIs) for incident MetSyn, by weight discrepancy category, were estimated using Cox proportional hazards regression. The multivariable-adjusted HR for MetSyn was 3.48 (95% CI=2.48-4.86) for those who maintained higher weight discrepancy over time compared to individuals with lower weight discrepancy. Additional adjustment for body mass index did not change this interpretation (HR=3.44; 95% CI=2.46-4.82). Weight discrepancy may be a useful screening characteristic and target for future interventions to further reduce the risk of chronic weight-related disorders, included MetSyn.

  19. A Four-Year Longitudinal Study on Restless Legs Syndrome in Parkinson Disease

    Science.gov (United States)

    Moccia, Marcello; Erro, Roberto; Picillo, Marina; Santangelo, Gabriella; Spina, Emanuele; Allocca, Roberto; Longo, Katia; Amboni, Marianna; Palladino, Raffaele; Assante, Roberta; Pappatà, Sabina; Pellecchia, Maria Teresa; Barone, Paolo; Vitale, Carmine

    2016-01-01

    dopaminergic pathways, and worse sleep and cardiovascular disturbances. Citation: Moccia M, Erro R, Picillo M, Santangelo G, Spina E, Allocca R, Longo K, Amboni M, Palladino R, Assante R, Pappatà S, Pellecchia MT, Barone P, Vitale C. A four-year longitudinal study on restless legs syndrome in Parkinson disease. SLEEP 2016;39(2):405–412. PMID:26564123

  20. Longitudinal study of the diagnosis of components of the metabolic syndrome in individuals with binge-eating disorder123

    Science.gov (United States)

    Hudson, James I; Lalonde, Justine K; Coit, Caitlin E; Tsuang, Ming T; McElroy, Susan L; Crow, Scott J; Bulik, Cynthia M; Hudson, Margo S; Yanovski, Jack A; Rosenthal, Norman R; Pope, Harrison G

    2010-01-01

    Background: Binge-eating disorder may represent a risk factor for the metabolic syndrome. Objective: The objective was to assess longitudinally the relation between binge-eating disorder and components of the metabolic syndrome. Design: At 2.5 and 5 y of follow-up, 134 individuals with binge-eating disorder and 134 individuals with no history of eating disorders, who were frequency-matched for age, sex, and baseline body mass index (BMI), were interviewed during the follow-up interval regarding new diagnoses of 3 metabolic syndrome components: hypertension, dyslipidemia, and type 2 diabetes. Results: A comparison of individuals with and without a binge-eating disorder in analyses adjusted for age, sex, baseline BMI, and interval BMI change had hazard ratios (95% CIs) for reporting new diagnoses of metabolic syndrome components of 2.2 (1.2, 4.2; P = 0.023) for dyslipidemia, 1.5 (0.76, 2.9; P = 0.33) for hypertension, 1.6 (0.77, 3.9; P = 0.29) for type 2 diabetes, 1.7 (1.1, 2.6; P = 0.023) for any component, and 2.4 (1.1, 5.7; P = 0.038) for ≥2 components. Conclusion: Binge-eating disorder may confer a risk of components of the metabolic syndrome over and above the risk attributable to obesity alone. This trial was registered at www.clinicaltrials.gov as NCT00777634. PMID:20427731

  1. Longitudinal Profiles of Expressive Vocabulary, Syntax and Pragmatic Language in Boys with Fragile X Syndrome or Down Syndrome

    Science.gov (United States)

    Martin, Gary E.; Losh, Molly; Estigarribia, Bruno; Sideris, John; Roberts, Joanne

    2013-01-01

    Background: Fragile X syndrome (FXS) and Down syndrome (DS) are the two leading genetic causes of intellectual disability, and FXS is the most common known genetic condition associated with autism. Both FXS and DS are associated with significant language impairment, but little is known about expressive language across domains over time or the role…

  2. 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

    2002-10-01

    Longitudinal change in syntax comprehension and production skill, measured four times across a 6-year period, was modeled in 31 individuals with Down syndrome who were between the ages of 5 and 20 years at the start of the study. Hierarchical Linear Modeling was used to fit individual linear growth curves to the measures of syntax comprehension (TACL-R) and mean length of spontaneous utterances obtained in 12-min narrative tasks (MLU-S), yielding two parameters for each participant's comprehension and production: performance at study start and growth trajectory. Predictor variables were obtained by fitting linear growth curves to each individual's concurrent measures of nonverbal visual cognition (Pattern Analysis subtest of the Stanford-Binet), visual short-term memory (Bead Memory subtest), and auditory short-term memory (digit span), yielding two individual predictor parameters for each measure: performance at study start and growth trajectory. Chronological age at study start (grand-mean centered), sex, and hearing status were also taken as predictors. The best-fitting HLM model of the comprehension parameters uses age at study start, visual short-term memory, and auditory short-term memory as predictors of initial status and age at study start as a predictor of growth trajectory. The model accounted for 90% of the variance in intercept parameters, 79% of the variance in slope parameters, and 24% of the variance at level 1. The some predictors were significant predictors of initial status in the best model for production, with no measures predicting slope. The model accounted for 81% of the intercept variance and 43% of the level 1 variance. When comprehension parameters are added to the predictor set, the best model, accounting for 94% of the intercept and 22% of the slope variance, uses only comprehension at study start as a predictor of initial status and comprehension slope as a predictor of production slope. These results reflect the fact that expressive

  3. Longitudinal increase in gamma-glutamyltransferase within the reference interval predicts metabolic syndrome in middle-aged Korean men.

    Science.gov (United States)

    Ryu, Seungho; Chang, Yoosoo; Woo, Hee-Yeon; Yoo, Sang-Ho; Choi, Nam-Kyong; Lee, Won-Young; Kim, Inah; Song, Jaechul

    2010-05-01

    In the absence of existing research, we examined the association between longitudinal changes in serum gamma-glutamyltransferase (GGT) levels and the risk for metabolic syndrome (MetS). A MetS-free cohort of 9148 healthy male workers, who had participated in a health checkup program in 2002, was followed until September 2007. Metabolic syndrome was defined according to the modified National Cholesterol Education Program, using body mass index instead of waist circumference. Standard Cox proportional hazards and time-dependent Cox models were performed. During 37 663.4 person-years of follow-up, 1056 men developed MetS. The risk of incident MetS increased across the baseline GGT quartiles, even after further updating GGT values during the follow-up. A longitudinal increase in GGT as a time-dependent variable as well as a non-time-dependent variable was significantly related to MetS after adjusting for age plus the elapsed time from visit 1 to visit 2, baseline MetS traits, uric acid, regular exercise, alcohol consumption, and smoking. Even within the GGT reference interval (interval, 1.26-2.07). Furthermore, these associations were consistently observed within the subgroups-those with body mass index less than 23 kg/m(2), C-reactive protein less than 3.0 mg/L, homeostasis model assessment of insulin resistance less than 2.04, alcohol intake not exceeding 20 g/d, alanine aminotransferase less than 35 U/L, an absence of ultrasonographically detected fatty liver, and an absence of any MetS traits. A longitudinal increase in the GGT level, even within the GGT reference interval, may be an independent predictor for MetS, regardless of the baseline GGT.

  4. 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.

  5. A longitudinal study of the metabolic syndrome and risk of postmenopausal breast cancer.

    Science.gov (United States)

    Kabat, Geoffrey C; Kim, Mimi; Chlebowski, Rowan T; Khandekar, Janu; Ko, Marcia G; McTiernan, Anne; Neuhouser, Marian L; Parker, Donna R; Shikany, James M; Stefanick, Marcia L; Thomson, Cynthia A; Rohan, Thomas E

    2009-07-01

    The metabolic syndrome, characterized by abdominal obesity, high blood glucose levels, impaired glucose tolerance, dyslipidemia, and hypertension, is associated with increased risk of type 2 diabetes and coronary heart disease. Several studies have examined the association of the individual components of the metabolic syndrome with breast cancer; to date, however, no study has assessed the metabolic syndrome per se in relation to breast cancer risk. Furthermore, previous studies have relied only on baseline assessment of components of the syndrome. Therefore, we assessed the association of the metabolic syndrome with the risk of postmenopausal breast cancer among women in the 6% sample of subjects in the Women's Health Initiative clinical trial and the 1% sample of women in the observational study who had repeated measurements of the components of the syndrome during follow-up. We used Cox proportional hazards models to estimate hazard ratios and 95% confidence intervals for the association of breast cancer risk with the presence of the metabolic syndrome, as well as its components, at baseline and in time-dependent analyses. After exclusion of women with diabetes, among 4,888 women with baseline measurements, 165 incident cases of breast cancer were ascertained over a median of 8 years of follow-up. The presence of the metabolic syndrome at baseline was not associated with altered risk. Of the individual components measured at baseline, diastolic blood pressure showed a borderline positive association with breast cancer. In time-dependent covariate analyses, however, certain scenarios indicated a positive association between the metabolic syndrome and breast cancer, due primarily to positive associations with serum glucose, serum triglycerides, and diastolic blood pressure.

  6. 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).

  7. A longitudinal study of the metabolic syndrome and risk of colorectal cancer in postmenopausal women.

    Science.gov (United States)

    Kabat, Geoffrey C; Kim, Mimi Y; Peters, Ulrike; Stefanick, Marcia; Hou, Lifang; Wactawski-Wende, Jean; Messina, Catherine; Shikany, James M; Rohan, Thomas E

    2012-07-01

    The metabolic syndrome is associated with increased risk of diabetes and coronary heart disease. Although higher BMI and other related factors have been frequently associated with colorectal cancer, whether the metabolic syndrome is associated with the risk of colorectal cancer is unclear. We therefore assessed the association of the metabolic syndrome with the risk of colorectal cancer in a subsample of participants of the Women's Health Initiative who had repeated measurements of the components of the syndrome at baseline and during follow-up. Women with diabetes at baseline enrollment were excluded. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% confidence intervals (95% CI) at baseline and in time-dependent analyses. Among 4862 eligible women, 81 incident cases of colorectal cancer were identified over a median follow-up of 12 years. Presence of the metabolic syndrome at baseline was associated with increased risk of colorectal cancer (HR 2.15, 95% CI 1.30-3.53) and colon cancer (HR 2.28, 95% CI 1.31-3.98). These associations were largely explained by positive associations of serum glucose and systolic blood pressure with both outcomes. Time-dependent covariate analyses supported the baseline findings. Our results suggest that the positive association of the metabolic syndrome with risk of colorectal cancer is largely accounted for by serum glucose levels and systolic blood pressure. The biological mechanism underlying these associations remains to be clarified.

  8. Longitudinal Anti-Müllerian Hormone in Women with Polycystic Ovary Syndrome: An Acupuncture Randomized Clinical Trial

    Directory of Open Access Journals (Sweden)

    Jason Franasiak

    2012-01-01

    Full Text Available Others have studied acupuncture treatment for polycystic ovary syndrome (PCOS. Anti-müllerian hormone (AMH is positively correlated with the ovarian follicle pool, thus making it a useful ovarian reserve measure. AMH is elevated in women with PCOS and has been suggested as a diagnostic tool. This study examined the impact of electroacupuncture on AMH concentration in women with PCOS. Seventy-one women with PCOS participated in a randomized, double-blind, sham-controlled clinical trial of acupuncture. Three longitudinal AMH samples over the 5-month protocol were compared with objective ovulation parameters primarily using nonparametric statistics. Results indicated that AMH levels in PCOS were higher than published norms in women without PCOS. There was no difference between the true and sham acupuncture arms in the change in AMH longitudinally. Baseline AMH, but not the change in AMH over time, was inversely correlated with ovulation and menstrual cycle frequencies in both arms combined (<0.001. In conclusion, AMH correlated with an increased likelihood of monthly ovulation, as expected from the literature on women without PCOS. The lack of difference by intervention in AMH was consistent with the underlying clinical trial. AMH may be clinically useful to predict which PCOS women are more likely to respond to an intervention.

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

    Science.gov (United States)

    Baek, Jong Ha; Jin, Sang-Man; Bae, Ji Cheol; Jee, Jae Hwan; Yu, Tae Yang; Kim, Soo Kyoung; Hur, Kyu Yeon; Lee, Moon-Kyu

    2017-01-01

    Background An 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. Methods We 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. Results A 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. Conclusion There 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. PMID:28029017

  10. Progression of Microstructural Degeneration in Progressive Supranuclear Palsy and Corticobasal Syndrome: A Longitudinal Diffusion Tensor Imaging Study.

    Directory of Open Access Journals (Sweden)

    Yu Zhang

    Full Text Available Progressive supranuclear palsy (PSP and corticobasal syndrome (CBS are both 4 microtubule binding repeat tauopathy related disorders. Clinical trials need new biomarkers to assess the effectiveness of tau-directed therapies. This study investigated the regional distribution of longitudinal diffusion tensor imaging changes, measured by fractional anisotropy, radial and axial diffusivity over 6 months median interval, in 23 normal control subjects, 35 patients with PSP, and 25 patients with CBS. A mixed-effects framework was used to test longitudinal changes within and between groups. Correlations between changes in diffusion variables and clinical progression were also tested. The study found that over a 6 month period and compared to controls, the most prominent changes in PSP were up to 3±1% higher rates of FA reduction predominantly in superior cerebellar peduncles, and up to 18±6% higher rates of diffusivity increases in caudate nuclei. The most prominent changes in CBS compared to controls were up to 4±1% higher rates of anisotropy reduction and 18±6% higher rates of diffusivity increase in basal ganglia and widespread white matter regions. Compared to PSP, CBS was mainly associated with up to 3±1% greater rates of anisotropy reduction around the central sulci, and 11±3% greater rates of diffusivity increase in superior fronto-occipital fascicules. Rates of diffusivity increases in the superior cerebellar peduncle correlated with rates of ocular motor decline in PSP patients. This study demonstrated that longitudinal diffusion tensor imaging measurement is a promising surrogate marker of disease progression in PSP and CBS over a relatively short period.

  11. 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....

  12. The longitudinal time course of QTc in early infancy. Preliminary results of a prospective sudden infant death syndrome surveillance program.

    Science.gov (United States)

    Schaffer, M S; Trippel, D L; Buckles, D S; Young, R H; Dolan, P L; Gillette, P C

    1991-03-01

    Eleven hundred one healthy neonates in Charleston County, SC, were enrolled in a prospective, serial measurement sudden infant death syndrome/QT surveillance program. Automated computer-enhanced ECGs were recorded at 1 day of age in the hospital nursery and again at 1 week and 1, 2, and 3 months in the participant's home. At 1 year, the families were contacted by phone or mail and questioned as to the health of the child. Validation studies demonstrated the computer-enhanced ECGs to be 96% accurate, whereas traditional ECG recording and measurement was 94% accurate. No systematic differences in the QTc according to race and sex were observed. There were parallel longitudinal time courses for each race and sex group with a significant (P less than .001) shortening of the QTc at 1 week. There was no evidence of tracking of the QTc during the first 3 months of life. In conclusion, (1) automated, enhanced ECG QTc intervals are superior to traditional electrocardiography while retaining the advantages of automation; (2) there is a significant shortening of the QTc during the first month of life; and (3) a home follow-up sudden infant death syndrome surveillance program is feasible and produces accurate, reliable information.

  13. Brief Report: A Longitudinal Study of Excessive Smiling and Laughing in Children with Angelman Syndrome

    Science.gov (United States)

    Adams, Dawn; Horsler, Kate; Mount, Rebecca; Oliver, Chris

    2015-01-01

    Elevated laughing and smiling is a key characteristic of the Angelman syndrome behavioral phenotype, with cross-sectional studies reporting changes with environment and age. This study compares levels of laughing and smiling in 12 participants across three experimental conditions [full social interaction (with eye contact), social interaction with…

  14. 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 pr...

  15. 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…

  16. 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 gona

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

    NARCIS (Netherlands)

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

    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

  18. Onset of Dyspraxia in Aging Persons with Down Syndrome: Longitudinal Studies.

    Science.gov (United States)

    Dalton, Arthur J.; Fedor, Bettye L.

    1998-01-01

    Because dyspraxia (partial loss of the ability to perform purposeful motor acts) is an early symptom of Alzheimer disease, a 62-item dyspraxia scale adapted for adults with Down syndrome (DS) was developed. Use of the measure over 3.5 years with 72 DS individuals (age 40 or older) found statistically significant deterioration that suggested…

  19. 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…

  20. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome

    OpenAIRE

    Lee, Michelle; Martin, Gary E; Berry-Kravis, Elizabeth; Losh, Molly

    2016-01-01

    Background Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizin...

  1. Standing, Obesity, and Metabolic Syndrome: Findings From the Cooper Center Longitudinal Study.

    Science.gov (United States)

    Shuval, Kerem; Barlow, Carolyn E; Finley, Carrie E; Gabriel, Kelley Pettee; Schmidt, Michael D; DeFina, Laura F

    2015-11-01

    To examine the cross-sectional relationships between standing time, obesity, and metabolic syndrome alongside and independent of leisure-time physical activity (LTPA). The primary study sample consisted of 7075 adult patients (aged 20-79 years) from Cooper Clinic (Dallas, Texas). In this cross-sectional study we assessed the associations between reported standing time and directly measured obesity (body mass index ≥ 30), elevated waist circumference (men: ≥ 102 cm; women: ≥ 88 cm), body fat percentage (men: ≥ 25%; women ≥ 30%), and metabolic syndrome (yes/no). In addition, the joint associations of standing and LTPA on each outcome were examined. Multivariable logistic regression adjusting for confounders was used for statistical analyses. Standing a quarter of the time or more was significantly associated with reduced odds of an elevated body fat percentage in men (P obesity (P obesity (P=.04) in women. In addition, joint association analyses indicated that compared with the reference group (ie, not meeting the physical activity guidelines/standing almost none of the time), men and women who met the physical activity guidelines had lower odds of all obesity outcomes and metabolic syndrome with incremental additions of standing time (ie, a dose-response relationship). Standing a quarter of the time per day or more is associated with reduced odds of obesity. The inverse relationship of standing to obesity and metabolic syndrome is more robust when combined with health-promoting LTPA. Prospective studies are warranted to confirm these findings and establish a causal relationship. Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.

  2. 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.

  3. A Longitudinal Relationship between Depressive Symptoms and Development of Metabolic Syndrome: the Coronary Artery Risk Development in Young Adults (CARDIA) Study

    Science.gov (United States)

    Womack, Veronica Y.; De Chavez, Peter John; Albrecht, Sandra S.; Durant, Nefertiti; Loucks, Eric B.; Puterman, Eli; Redmond, Nicole; Siddique, Juned; Williams, David R.; Carnethon, Mercedes R.

    2016-01-01

    Objective Despite variability in the burden of elevated depressive symptoms by sex and race and differences in the incidence of metabolic syndrome, few prior studies describe the longitudinal association of depressive symptoms with metabolic syndrome in a diverse cohort. We tested whether baseline and time-varying depressive symptoms were associated with metabolic syndrome incidence in black and white men and women from the Coronary Artery Risk Development in Young Adults (CARDIA) study. Methods Participants reported depressive symptoms using the Center for Epidemiologic Studies Depression (CES-D) Scale at 4 examinations between 1995 and 2010. At those same examinations, metabolic syndrome was determined. Cox proportional hazards models were used to examine associations of depressive symptoms on development of metabolic syndrome in 3,208 participants without metabolic syndrome at baseline. Results Over 15 years, the incidence rate of metabolic syndrome (per 10,000 person-years) varied by race and sex with the highest rate in black women (279.2), followed by white men (241.9), black men (204.4) and white women (125.3). Depressive symptoms (per SD higher) were associated with incident metabolic syndrome in white men (hazard ratio [HR]=1.25, 95% confidence interval [CI]: 1.08, 1.45) and white women (HR=1.17, 95% CI: 1.00, 1.37) following adjustment for demographic characteristics and health behaviors. There was no significant association between depression and metabolic syndrome among black men or black women. Conclusion Higher depressive symptoms contribute modestly to the onset of metabolic syndrome among white adults. PMID:27490849

  4. Longitudinal Impact of the Smoking Ban Legislation in Acute Coronary Syndrome Admissions

    Science.gov (United States)

    Sousa, P.; Matias-Dias, C.; Pinto, F. J.

    2017-01-01

    Background and Purpose. The association between smoking and CV has been proved; however smoking is still the first preventable cause of death in the EU. We aim to evaluate the potential impact of the smoke ban on the number of ACS events in the Portuguese population. In addition, we evaluate the longitudinal effects of the smoking ban several years after its implementation. Methods. We analyzed the admission rate for ACS before and after the ban using data from hospital admission. Monthly crude rate was computed, using the Portuguese population as the denominator. Data concerning the proportion of smokers among ACS patients were obtained from the NRACS. Interrupted time series were used to assess changes over time. Results. A decline of −5.8% was found for ACS crude rate after the smoking ban. The decreasing trend was observed even after years since the law. The effect of the ban was higher in men and for people over 65 years. The most significant reduction of ACS rate was found in Lisbon. Conclusions. Our results suggest that smoking ban is related to a decline in ACS admissions, supporting the importance of smoke legislation as a public health measure, contributing to the reduction of ACS rate. PMID:28265574

  5. A longitudinal study of industrial and clerical workers: incidence of carpal tunnel syndrome and assessment of risk factors.

    Science.gov (United States)

    Gell, Nancy; Werner, Robert A; Franzblau, Alfred; Ulin, Sheryl S; Armstrong, Thomas J

    2005-03-01

    This study followed workers over an extended period of time to identify factors which may influence the onset of Carpal Tunnel Syndrome (CTS). The purpose was to evaluate incidence of CTS and to create a predictive model of factors that play a role in the development of CTS. This prospective study followed 432 industrial and clerical workers over 5.4 years. Incident cases were defined as workers who had no prior history of CTS at baseline testing and were diagnosed with CTS during the follow-up period or at the follow-up screening. On the basis of logistic regression, significant predictors for CTS include baseline median-ulnar peak latency difference, a history of wrist/hand/finger tendonitis, a history of numbness, tingling, burning, and/or pain in the hand, and work above the action level of the peak force and hand activity level threshold limit value. This longitudinal study supports findings from previous cross-sectional studies identifying both work related ergonomic stressors and physical factors as independent risk factors for CTS.

  6. Predictors of short and long term outcome in patellofemoral pain syndrome: a prospective longitudinal study

    Directory of Open Access Journals (Sweden)

    Crossley Kay M

    2010-01-01

    Full Text Available Abstract Background Patellofemoral pain syndrome (PFP is a common musculoskeletal condition that has a tendency to become chronic and problematic in a proportion of affected individuals. The objective of this study was to identify prognostic factors that may have clinical utility in predicting poor outcome on measures of pain and function in individuals with PFP. Methods A prospective follow-up study was conducted of 179 participants in a randomised clinical trial. Nine baseline factors (age, gender, body mass index, arch height, duration of knee pain, worst pain visual analogue scale, Kujala Patellofemoral Score (KPS, functional index questionnaire (FIQ, step down repetitions were investigated for their prognostic ability on outcome assessed at six, 12 and 52 weeks (worst pain, KPS and FIQ. Factors with significant univariate associations were entered into multivariate linear regression models to identify a group of factors independently associated with poor outcome. Results Long symptom duration was the most consistent predictor of poor outcome over 52 weeks rated on the KPS and the FIQ (β-0.07, 95% confidence interval -0.1 to -0.03, p p Conclusions Patients presenting with PFP of long duration who score worse on the KPS have a poorer prognosis, irrespective of age, gender and morphometry. These results suggest that strategies aimed at preventing chronicity of more severe PFP may optimise prognosis.

  7. Sweetened Soft Drinks Consumption Is Associated with Metabolic Syndrome: Cross-sectional Analysis from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil).

    Science.gov (United States)

    Velasquez-Melendez, Gustavo; Molina, Maria Del Carmen B; Benseñor, Isabela M; Cardoso, Leticia O; Fonseca, Maria de Jesus M; Moreira, Alexandra D; Pereira, Taísa Sabrina S; Barreto, Sandhi M

    2017-02-01

    To estimate the association between regular consumption of sweetened soft drinks, natural fruit juice, and coconut water with metabolic syndrome (MetS). This was a cross-sectional study including men and women aged 35-74 years from the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) Study, excluding patients with type 2 diabetes. The main explanatory variables were beverage consumption and the outcome variable was metabolic syndrome (Adult Treatment Panel III). After adjustments, a daily intake of 250 ml of soft drink increased the chance of metabolic syndrome (odds ratio [OR] = 1.95; 95% confidence interval [CI], 1.60-2.38). There was no association between coconut water and MetS. Moderate consumption of fruit juices has low odds of MetS compared to no consumption. Our results add evidence to potential negative effects of sweetened soft drinks on cluster metabolic abnormalities in middle-income countries.

  8. Ophthalmologic impairment during adulthood in central congenital hypoventilation syndrome: a longitudinal cohort analysis of nine patients.

    Science.gov (United States)

    Boulanger-Scemama, Elise; Fardeau, Christine; Straus, Christian; Simon, Claude; Touitou, Valérie; Touhami, Sara; Amini, Maryam; Similowski, Thomas; LeHoang, Phuc

    2014-12-01

    Congenital central hypoventilation syndrome (CCHS) is a rare dysgenetic form of neurocristopathy associated with dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are reported in CCHS children, and range from pupillary and iris abnormalities to ptosis, strabismus and convergence deficiency. Since earlier CCHS diagnosis and multidisciplinary management, combined with improved ventilatory support techniques, the lifespan of children with CCHS has been considerably lengthened. The oldest of them have now reached adult age and we report in this study the results of their ophthalmologic examination. Nine CCHS adult patients were prospectively included during a 14-month period. Each patient underwent complete ophthalmologic examination, static pupillometry with scotopic and photopic pupillary diameter (PD) measures, Humphrey 24-2 visual field analysis, macular OCT and complete orthoptic assessment including a Hess-Lancaster test. Ophthalmologic abnormalities were found in six of the nine patients (66%). The main features were strabismus in six patients (66%). Four patients (44%) displayed abnormal pupillary function, with a decrease in average scotopic PD (3.8 ± 1.4 mm), average photopic PD (3.5 ± 1.2 mm), and average percentage of pupillary constriction (7.6 ± 8.5%). Three patients (33%) exhibited iris abnormalities such as iris atrophy, smooth iris surface and atrophic sphincter. This study allowed the description of ophthalmologic abnormalities occurring in CCHS in a series of adult patients, thus improving current knowledge of the disease. The prevalence of pupillary and iris lesions were lower than those observed in a series of children, suggesting that they could be considered as systemic disease severity markers.

  9. 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.

  10. A longitudinal cohort based association study between uric acid level and metabolic syndrome in Chinese Han urban male population

    Directory of Open Access Journals (Sweden)

    Zhang Qian

    2012-06-01

    Full Text Available Abstract Background It has been recently demonstrated that serum uric acid (UA is associated with metabolic syndrome (MetS or its related clinical indications based on cross-sectional or prospective cohort studies. Nonetheless, due to the fact that UA level constantly fluctuates from time to time even for the person, using a single measure of UA level at baseline of those studies may not be sufficient for estimating the UA-Mets association. Methods To further estimate this time-dependent association, we fitted a generalized estimating equation (GEE regression model with data from a large-scale 6-year longitudinal study, which included 2222 participants aged > =25 years with an average of 3.5 repeated measures of UA per person in the Health Management Center of Shandong Provincial Hospital, Shandong, China. Results After adjusting for other potential confounding factors (i.e., total cholesterol, low-density lipoprotein, it was verified that time-dependent UA level was an independent risk factor for MetS (OR = 1.6920, p  Conclusions Serum UA level may serve as an important risk factor of MetS. Additionally, our study suggested that UA level be an independent risk factor to obesity, hypertension and dyslipidemia, but a protective factor to hyperglycemia. These findings are concordant with results from other studies on Asian populations, and jointly provide a basis to further develop a risk assessment model for predicting MetS using UA levels and other factors in China.

  11. 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.

  12. There is a low incidence of recurrent bacteriuria in painful bladder syndrome/interstitial cystitis patients followed longitudinally.

    Science.gov (United States)

    Stanford, Edward; McMurphy, Carolyn

    2007-05-01

    The objective of this paper was to establish whether patients with confirmed painful bladder syndrome/interstitial cystitis (PBS/IC) presenting with symptoms of UTI have actual bacteriuria vs a flare of their PBS/IC symptoms. One hundred and six (n = 106) consecutive female patients (mean age 39.8 +/- 14 years) with newly diagnosed IC were identified and followed longitudinally for 24 months. At the initial visit and at all subsequent visits, urinary specimens were obtained by sterile catheterization (Bard 14Fr female) and cultured for bacteria. Eight patients had an initially positive urine culture, and repeat cultures 8 weeks after treatment were all negative. Once sterile urine was established, the diagnosis of PBS/IC was confirmed. A pelvic pain/urgency/frequency (PUF) questionnaire score was obtained from 89 patients. After the diagnosis of PBS/IC, all patients received multimodal treatment. Patients were instructed to present to the office whenever they developed symptoms of UTI, at which time a sterile catheter specimen was obtained and sent for culture. Greater than 10(3) colonies were considered positive. Patients who did not report flares were contacted to establish whether unreported treatments were given. Seventy-two patients (68%) had no UTI episodes or flares. The remaining 34 patients (32%) presented with 54 flares, of which 44 were culture-negative and 10 were culture-positive. A single flare was reported by 21 patients during the 24 months, with three positive cultures (14.3%). Recurrent UTI symptoms (two to four flares) were seen in a small group (n = 13) for a total of 33 flares. Of these, seven had two flares each (12 negative, 2 positive), five had three flares each (12 negative, 3 positive), and one patient had four flares (two negative, two positive). Therefore, within the group with recurrent symptoms, seven positive cultures were obtained for a rate of recurrent bacteriuria of 6.6% (7/106). Nine of the 10 positive bacterial cultures were

  13. 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.

  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. 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…

  16. 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…

  17. Childhood Predictors of Written Expression in Late Adolescents with 22q11.2 Deletion Syndrome: A Longitudinal Study

    Science.gov (United States)

    Hamsho, N.; Antshel, K. M.; Eckert, T. L.; Kates, W. R.

    2017-01-01

    Background: 22q11.2 deletion syndrome (22q11DS) is the second most prevalent genetic syndrome and has a characteristic academic and behavioural phenotype. The primary objective of the current study was to examine the childhood predictors of written expression achievement in adolescents with 22q11DS. Written expression is an important skill that…

  18. Changes in objectively measured physical activity in adolescents with Down syndrome: the UP&DOWN longitudinal study.

    Science.gov (United States)

    Izquierdo-Gomez, R; Martinez-Gómez, D; Esteban-Cornejo, I; Hallal, P C; García-Cervantes, L; Villagra, A; Veiga, O L

    2017-04-01

    It is a priority to understand that physical activity behaviour over time is a priority in Down syndrome population in order to design and promote succesfull interventions to maintain or increase levels of physical activity. We aimed to study 1 and 2-year changes in objectively measured physical activity among a relatively large sample of adolescents with Down syndrome. This study comprised a total of 99 adolescents with Down syndrome (38 girls) aged from 11 to 20 years old at baseline. Participants with valid accelerometer data at baseline and at least one of the follow-up visits were included in the analysis. Overall, levels of physical activity observed in adolescents with Down syndrome declined from baseline to follow-ups, but these changes were not significant (all P > 0.05). Moderate-to-moderately high tracking of physical activity was observed in adolescents with Down syndrome (all P Down syndrome do not change their levels of physical activity at 2-year follow-ups, but those who met physical activity guidelines presented stronger declines in physical activity over time. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  19. Early recognition of apical ballooning syndrome by global longitudinal strain using speckle tracking imaging--the evil eye pattern, a case series.

    Science.gov (United States)

    Sosa, Sualy; Banchs, Jose

    2015-07-01

    We report 4 cases of patients diagnosed with stress-induced cardiomyopathy and the pattern of typical apical ballooning syndrome (ABS), who presented to our institution with chest pain, mildly elevated cardiac enzymes and ischemic electrocardiographic changes, found to have severe hypokinesis or akinesis of the mid to apical segments with dynamic basal segments on two-dimensional (2D) echocardiography along with a global longitudinal strain (GLS) pattern markedly different from the typical left anterior descending artery (LAD) myocardial infarction pattern. All of them had a similar GLS pattern on presentation, which was easy to recognize on the polar map the day of the event. Three of the patients underwent left heart catheterization and found to have nonobstructive coronary artery disease (CAD). We discuss the usefulness of early recognition of ABS using GLS images. © 2015, Wiley Periodicals, Inc.

  20. 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...

  1. 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.

  2. Abdominoplastia por plicatura anterior longitudinal na síndrome de prune belly: experiência inicial do hospital municipal Jesus Abdominoplasty by longitudinal anterior plicature in prune belly syndrome: preliminary experience in hospital municipal Jesus

    Directory of Open Access Journals (Sweden)

    Lisieux Eyer de Jesus

    2001-06-01

    patients 1, 2 and 3, respectivelly. We could demonstrate that anterior longitudinal abdominoplasty is a safe and easily performed surgical technique, with good aesthetic results and significant psychological and social improvement. Chronic constipation, aerobic capacity and postural changes are also ameliorated. Regarding urodynamic repercussions we think that a longer period of observation is necessary to reach any definitive conclusions. CONCLUSIONS: Anterior longitudinal abdominoplasty is an effective and safe technique to treat prune belly syndrome patients and ameliorates functions of the abdominal parietes. It has urodynamic consequences that need long-term follow-up.

  3. Two-dimensional longitudinal strain for the assessment of the left ventricular systolic function as compared with conventional echocardiographic methods in patients with acute coronary syndromes.

    Science.gov (United States)

    Ryczek, Robert; Krzesiński, Paweł; Krzywicki, Paweł; Smurzyński, Paweł; Cwetsch, Andrzej

    2011-01-01

    The evaluation of the left ventricular (LV) function is one of the most important elements of diagnosis in patients with cardiovascular (CV) diseases. A low LV ejection fraction (LVEF) is a strong and independent predictor of CV events. Traditionally, echocardiography characterises the LV systolic function by the estimation of LVEF with use of the Simpson method, supported by the wall motion score index (WMSI). Speckle tracking imaging is a new method of LV function imaging based on the estimation of longitudinal peak systolic strain (LPSS), by tracing of the automatically detected myocardial speckles. To evaluate the usefulness of global longitudinal peak systolic strain (GLPSS) and regional longitudinal peak systolic strain (r-LPSS) in LV systolic function assessment and to compare LPSS with conventional parameters such as LVEF, WMSI and regional wall motion score index (r-WMSI). The study was performed in a group of 44 patients with a clinical diagnosis of acute coronary syndrome (mean age 63.6 ± 12.2 years). The LVEF, WMSI, r-WMSI were estimated by echocardiography (VIVID 7 Dimension, GE Healthcare, USA). Moreover, LPSS (GLPSS and r-LPSS) with use of automated function imaging (AFI) were also estimated. In the study group mean LVEF was 43.1 ± 12.7%, mean WMSI: 1.68 ± 0.52, and GLPSS: -13.8 ± 5.6%. A very strong linear correlation between the conventional and new parameters was observed - for GLPSS and LVEF: r = -0.86 (p < 0.00001), for GLPSS and WMSI: r = 0.88 (p < 0.00001). The results of the regional myocardial contractility assessment (r-LPSS and r-WMSI) were also in agreement, especially for LV anterior wall (r = 0.87, p < 0.00001). These results suggest a considerable usefulness of LPSS - a new method of echocardiographical imaging - in the estimation of global and regional LV function in patients with acute coronary syndrome and its agreement with conventional parameters such as LVEF and WMSI.

  4. Asperger Syndrome and Autism: A Comparative Longitudinal Follow-Up Study More than 5 Years after Original Diagnosis

    Science.gov (United States)

    Cederlund, Mats; Hagberg, Bibbi; Billstedt, Eva; Gillberg, I. Carina; Gillberg, Christopher

    2008-01-01

    Prospective follow-up study of 70 males with Asperger syndrome (AS), and 70 males with autism more than 5 years after original diagnosis. Instruments used at follow-up included overall clinical assessment, the Diagnostic Interview for Social and Communication Disorders, Wechsler Intelligence Scales, Vineland Adaptive Behavior Scales, and Global…

  5. Longitudinal Course of Behavioural and Emotional Problems of Young Persons with Prader-Willi, Fragile X, Williams and Down Syndromes.

    Science.gov (United States)

    Einfeld, Stewart; Tonge, Bruce; Turner, Gillian; Parmenter, Trevor; Smith, Arabella

    1999-01-01

    A comparison of levels of emotional and behavioral disturbance in 599 children and adolescents with four genetically determined causes of intellectual disability and an epidemiologically derived control group found in a 4-year follow-up study that persons with Down syndrome had significantly less behavior disturbance than controls and those with…

  6. 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…

  7. Speckle-Tracking Sonographic Assessment of Longitudinal Motion of the Flexor Tendon and Subsynovial Tissue in Carpal Tunnel Syndrome

    NARCIS (Netherlands)

    van Doesburg, Margriet H. M.; Yoshii, Yuichi; Henderson, Jacqueline; Villarraga, Hector R.; Moran, Steven L.; Amadio, Peter C.

    2012-01-01

    Objectives-The aim of this study was to image both tendon and subsynovial connective tissue movement in patients with carpal tunnel syndrome and healthy control volunteers, using sonography with speckle tracking. To estimate accuracy of this tracking method, we used in vivo measurements during surge

  8. Longitudinal splitting to the peroneus brevis tendon. Diagnosis and MRI staging; Syndrome fissuraire du tendon court fibulaire

    Energy Technology Data Exchange (ETDEWEB)

    Tavernier, T. [Clinique de la Sauvegarde, 69 - Lyon (France); Bonnin, M. [Clinique Charcot, 69 - Sainte-Foy-les-Lyon (France); Bouysset, M. [Centre hospitalier Lyon-Sud, 69 Pierre-Benite (France)

    1997-05-01

    We present a series of 38 cases of longitudinal splitting of the peroneus brevis tendon revealed by MR imaging (12 lesions were confirmed at surgery). MRI enabled classification in four surgical grades.The frequency of such lesions in chronic ankle instability as observed in our series is often reported in the literature. Bilateral cases are common. Asymptomatic cases do occur, especially in grades I and II. MRI has been shown to be a very effective investigation for demonstrating this tendinous lesion: the proton density weighted sequence in the axial plane is the most adequate sequence. (authors). 15 refs.

  9. Longitudinal Anti-Müllerian Hormone in Women with Polycystic Ovary Syndrome: An Acupuncture Randomized Clinical Trial

    OpenAIRE

    Jason Franasiak; Young, Steven L; Williams, Christopher D.; Pastore, Lisa M.

    2012-01-01

    Others have studied acupuncture treatment for polycystic ovary syndrome (PCOS). Anti-müllerian hormone (AMH) is positively correlated with the ovarian follicle pool, thus making it a useful ovarian reserve measure. AMH is elevated in women with PCOS and has been suggested as a diagnostic tool. This study examined the impact of electroacupuncture on AMH concentration in women with PCOS. Seventy-one women with PCOS participated in a randomized, double-blind, sham-controlled clinical trial of ac...

  10. 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.

  11. 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

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    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

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

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    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.

  13. Description and prediction of the development of metabolic syndrome: a longitudinal analysis using a markov model approach.

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    Lee-Ching Hwang

    Full Text Available BACKGROUND: Delineating the natural history of metabolic syndrome (MetS is prerequisite to prevention. This study aimed to build Markov models to simulate each component's progress and to test the effect of different initial states on the development of MetS. METHODS: MetS was defined with revised AHA/NHLBI criteria. Each reversible multistate Markov chain consisted of 8 states (no component, five isolated component states, 2-component state, and MetS state. Yearly transition probabilities were calculated from a five-year population-based follow up studywhich enrolled 2,247 individuals with mean aged 32.4 years at study entry. RESULTS: In men, high BP or a 2-component state was most likely to initiate the progress of MetS. In women, abdominal obesity or low HDL were the most likely initiators. Metabolic components were likely to occur together. The development of MetS was an increasing monotonic function of time. MetS was estimated to develop within 15 years in 12.7% of young men with no component, and 2 components developed in 16.3%. MetS was estimated to develop in 10.6% of women with at the age of 47, and 2 components developed in 14.3%. MetS was estimated to develop in 24.6% of men and 27.6% of women with abdominal obesity, a rate higher than in individuals initiating with no component. CONCLUSIONS: This modeling study allows estimation of the natural history of MetS. Men tended to develop this syndrome sooner than women did, i.e., before their fifth decade of life. Individuals with 1 or 2 components showed increased development of MetS.

  14. Longitudinal measures of cognition in the Ts65Dn mouse: Refining windows and defining modalities for therapeutic intervention in Down syndrome.

    Science.gov (United States)

    Olmos-Serrano, J Luis; Tyler, William A; Cabral, Howard J; Haydar, Tarik F

    2016-05-01

    Mouse models have provided insights into adult changes in learning and memory in Down syndrome, but an in-depth assessment of how these abnormalities develop over time has never been conducted. To address this shortcoming, we conducted a longitudinal behavioral study from birth until late adulthood in the Ts65Dn mouse model to measure the emergence and continuity of learning and memory deficits in individuals with a broad array of tests. Our results demonstrate for the first time that the pace at which neonatal and perinatal milestones are acquired is correlated with later cognitive performance as an adult. In addition, we find that life-long behavioral indexing stratifies mice within each genotype. Our expanded assessment reveals that diminished cognitive flexibility, as measured by reversal learning, is the most robust learning and memory impairment in both young and old Ts65Dn mice. Moreover, we find that reversal learning degrades with age and is therefore a useful biomarker for studying age-related decline in cognitive ability. Altogether, our results indicate that preclinical studies aiming to restore cognitive function in Ts65Dn should target both neonatal milestones and reversal learning in adulthood. Here we provide the quantitative framework for this type of approach.

  15. Longitudinal annular displacement by M-mode (MAPSE and TAPSE) in twin-to-twin transfusion syndrome before and after laser surgery.

    Science.gov (United States)

    Ortiz, Javier U; Crispi, Fatima; Yamamoto, Ryo; Masoller, Narcis; Cruz-Lemini, Monica; Gómez, Olga; Bennasar, Mar; Lobmaier, Silvia M; Eixarch, Elisenda; Martinez, Josep M; Gratacós, Eduard

    2015-12-01

    To evaluate mitral and tricuspid annular plane systolic excursion (MAPSE and TAPSE) in fetuses with twin-to-twin transfusion syndrome (TTTS) before and after laser therapy. A prospective study in 24 fetal pairs with TTTS evaluated 24 h before and within 48 h after fetoscopy and 13 gestational age-matched normal monochorionic fetal pairs. MAPSE and TAPSE were measured in an apical or basal four-chamber view by placing the M-mode cursor at the lateral valve ring. Mean preoperative MAPSE (controls 3.6 ± 1.3 mm vs. donors 2.7 ± 0.8 mm vs. recipients 2.8 mm ± 0.9; P < 0.001) and TAPSE (controls 4.4 ± 1.5 mm vs. donors 3.3 ± 1 mm vs. recipients 3.6  ± 1.1 mm; P < 0.001) values were significantly reduced in both TTTS fetuses. When subdividing according to TTTS stages, changes were significant in both stage I-II and III-IV subgroups, although differences were more pronounced in the latter. All observations remained unchanged 48 h post-fetoscopy. Both recipient and donor fetuses had decreased global longitudinal motion, even in early TTTS stages. © 2015 John Wiley & Sons, Ltd.

  16. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Flor, Nicola [Unita Operativa di Radiologia Diagnostica Interventistica, University of Milan School of Medicine, Ospedale San Paolo, Milan (Italy)], E-mail: flornic@hotmail.com; Zuin, Massimo [Unita Operativa di Epatologia e Gastroenterologia Medica, University of Milan School of Medicine, Ospedale San Paolo, Via A. di Rudini 8, 20142 Milan (Italy); Brovelli, Francesca [Department of Radiology, Centro Diagnostico Italiano, Milan (Italy); Maggioni, Marco [Servizio di Anatomia Patologica, Ospedale San Paolo, Milan (Italy); Tentori, Augusta [Servizio di Radiologia, Ospedale di Voghera (Italy); Sardanelli, Francesco [Radiology, IRCCS Policlinico San Donato, University of Milan School of Medicine, Milan (Italy); Cornalba, Gian Paolo [Unita Operativa di Radiologia Diagnostica Interventistica, University of Milan School of Medicine, Ospedale San Paolo, Milan (Italy)

    2010-03-15

    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.

  18. Clustering of metabolic syndrome traits is associated with maladaptive carotid remodeling and stiffening: a 6-year longitudinal study.

    Science.gov (United States)

    Ferreira, Isabel; Beijers, Hanneke J; Schouten, Fleur; Smulders, Yvo M; Twisk, Jos W; Stehouwer, Coen D

    2012-08-01

    Maladaptive arterial remodeling may constitute a mechanism underlying the risk of stroke in individuals with the metabolic syndrome (MetS), but evidence supporting this contention derives from cross-sectional studies only. We, therefore, investigated, in apparently healthy adults, whether changes in MetS status between the ages of 36 and 42 years (never [n=207, reference group], incident [n=31], recovery [n=23], and persistent [n=32]) were associated with changes in carotid interadventitial diameter, lumen diameter, intima-media thickness, circumferential wall tension and stress, and Young's elastic modulus. All data analyses were adjusted for sex, height, and (changes in) age, lifestyle variables, low-density lipoprotein cholesterol, and use of antihypertensive medication. At baseline and as compared with the reference group, individuals with persistent MetS had significantly higher interadventitial diameter, circumferential wall tension, circumferential wall stress, and Young's elastic modulus but not intima-media thickness. In the course of follow-up, these individuals (versus reference group) displayed significantly steeper increases in intima-media thickness (0.011 versus 0.005 mm/y), which were accompanied by significantly steeper increases in interadventitial diameter (0.077 versus 0.032 mm/y) and lumen diameter (0.055 versus 0.023 mm/y) but not circumferential wall stress, which decreased (-0.34 versus 0.12 kPa/y). These findings suggest that increases in intima-media thickness in young adults with the MetS may primarily reflect an adaptive mechanism that attempts to restore local hemodynamic conditions to an equilibrium rather than atherosclerosis, per se. However, carotid adaptations did not restore circumferential wall stress to levels comparable with those of the reference group, and, therefore, outward remodeling was maladaptive. Importantly, individuals who recovered from the MetS restored carotid properties to levels comparable to the reference group

  19. Predicting reading comprehension academic achievement in late adolescents with velo-cardio-facial (22q11.2 deletion) syndrome (VCFS): a longitudinal study.

    Science.gov (United States)

    Antshel, K; Hier, B; Fremont, W; Faraone, S V; Kates, W

    2014-10-01

    The primary objective of the current study was to examine the childhood predictors of adolescent reading comprehension in velo-cardio-facial syndrome (VCFS). Although much research has focused on mathematics skills among individuals with VCFS, no studies have examined predictors of reading comprehension. 69 late adolescents with VCFS, 23 siblings of youth with VCFS and 30 community controls participated in a longitudinal research project and had repeat neuropsychological test batteries and psychiatric evaluations every 3 years. The Wechsler Individual Achievement Test-2nd edition (WIAT-II) Reading Comprehension subtest served as our primary outcome variable. Consistent with previous research, children and adolescents with VCFS had mean reading comprehension scores on the WIAT-II, that were approximately two standard deviations below the mean and word reading scores approximately one standard deviation below the mean. A more novel finding is that relative to both control groups, individuals with VCFS demonstrated a longitudinal decline in reading comprehension abilities yet a slight increase in word reading abilities. In the combined control sample, WISC-III FSIQ, WIAT-II Word Reading, WISC-III Vocabulary and CVLT-C List A Trial 1 accounted for 75% of the variance in Time 3 WIAT-II Reading Comprehension scores. In the VCFS sample, WISC-III FSIQ, BASC-Teacher Aggression, CVLT-C Intrusions, Tower of London, Visual Span Backwards, WCST Non-perseverative Errors, WIAT-II Word Reading and WISC-III Freedom from Distractibility index accounted for 85% of the variance in Time 3 WIAT-II Reading Comprehension scores. A principal component analysis with promax rotation computed on the statistically significant Time 1 predictor variables in the VCFS sample resulted in three factors: Word reading decoding/Interference control, Self-Control/Self-Monitoring and Working Memory. Childhood predictors of late adolescent reading comprehension in VCFS differ in some meaningful ways from

  20. The functional, social and economic impact of acute encephalitis syndrome in Nepal--a longitudinal follow-up study.

    Directory of Open Access Journals (Sweden)

    Michael J Griffiths

    Full Text Available Over 133,000 children present to hospitals with Acute Encephalitis Syndrome (AES annually in Asia. Japanese encephalitis (JE accounts for approximately one-quarter of cases; in most cases no pathogen is identified and management is supportive. Although JE is known to result in neurological impairment, few studies have examined the wider impact of JE and AES on patients and their families.Children (aged 1 month-14 years with AES were assessed 5-12 months after discharge from two Nepali hospitals. Assessment included clinical examination, the Liverpool Outcome Score (LOS - a validated assessment of function following encephalitis, questionnaires about the child's social participation since discharge, and out-of-pocket costs to the family. Children were classified as JE or 'other AES' based on anti-JE virus antibody titres during acute illness. Contact was made with the families of 76% (73/96 of AES children. Six children had died and one declined participation. 48% (32/66 reported functional impairment at follow-up, most frequently affecting behaviour, language or limb use. Impairment was more frequent in JE compared to 'other AES' cases (68% [13/19] versus 40% [19/47]; p = 0.06. 49% (26/53 had improvement in LOS between discharge and follow-up. The median out-of-pocket cost to families, including medical bills, medication and lost earnings was US$ 1151 (10 times their median monthly income for children with severe/moderate impairment and $524 (4.6 times their income for those with mild/no impairment (P = 0.007. Acute admission accounted for 74% of costs. Social participation was limited in 21% of children (n = 14.Prolonged functional impairment was common following AES. Economic impact to families was substantial. Encouragingly, almost half the children improved after discharge and most reported sustained social participation. This study highlights a need for long-term medical support following AES. Rationalisation of initial expensive hospital

  1. The value of 3-dimensional longitudinal strain in the evaluation of complex coronary lesions in non-ST-segment elevation acute coronary syndrome patient.

    Science.gov (United States)

    Cai, Zekun; Dai, Jianwei; Wu, Dan; Qiu, Jian; Ma, Jun; Li, Guoying; Zhu, Wei; Lei, Hongqiang; Huang, Wenhua; Zhang, Heye; Xu, Lin

    2016-09-01

    The aim of this study is to investigate the value of 3-dimensional global peak longitudinal strain (GPLS) derived from the 3-dimensional speckle-tracking echocardiography (3D-STE) in the diagnosis of the complex non-ST-segment elevation acute coronary syndromes (NSTE-ACS) by comparing GPLS to the synergy between percutaneous coronary intervention with taxus and cardiac surgery (SYNTAX) score.A total of 59 inpatients with NSTE-ACS in our hospital between October 2014 and January 2015 were enrolled into our study. All these subjects underwent the coronary angiography (CAG) and 3D-STE examination. The results of CAG were used to calculate the SYNTAX scores in each subject. The GPLS was assessed with speckle-tracking analysis using the dedicated software developed by GE Healthcare (Horten, Norway).We grouped all subjects according to the SYNTAX scores. A total of 23 patients (39%) were grouped as complex NSTE-ACS in our experiment. In our analysis, the values of GPLS significantly decreased from low SYNTAX scores to intermediate or high SYNTAX scores (-14.0 ± 2.7% and -9.5 ± 2.8%, respectively, P < 0.001). Multivariate regression analysis showed that GPLS and diabetes mellitus were independent predictors for complex NSTE-ACS. The area under the receiver operator characteristic curve (AUC) for GPLS to evaluate patients with complex NSTE-ACS was 0.882 (95% confidence interval [CI], 0.797-0.967, P < 0.001) with an optimal cutoff value of -11.76% (sensitivity 82.6% and specificity 83.3%). The evaluative value of the adjusted AUC for evaluating patients with complex NSTE-ACS improved after inclusion of GPLS (C statistics, 0.827-0.948, P < 0.001).The value of GPLS is significantly associated with the complexity of coronary artery lesions, according to SYNTAX score. Therefore, our study indicates that GPLS could be reproducible and efficient to evaluate the complex coronary artery disease in NSTE-ACS patients.

  2. Effects of dietary fibre intake during adolescence on the components of the metabolic syndrome at the age of 36 years: The Amsterdam Growth and Health Longitudinal Study

    NARCIS (Netherlands)

    Veldhuis, L.; Koppes, L.L.J.; Driessen, M.T.; Samoocha, D.; Twisk, J.W.R.

    2010-01-01

    Background: The prevalence of the metabolic syndrome is increasing, especially in young individuals. Most of the previous studies that have investigated the association between dietary fibre intake and the metabolic syndrome are cross-sectional or of short duration, and their results are inconsisten

  3. 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.

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

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    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.

  5. 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....

  6. 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....

  7. Predicting Reading Comprehension Academic Achievement in Late Adolescents with Velo-Cardio-Facial (22q11.2 Deletion) Syndrome (VCFS): A Longitudinal Study

    Science.gov (United States)

    Antshel, K.; Hier, B.; Fremont, W.; Faraone, S. V.; Kates, W.

    2014-01-01

    Background: The primary objective of the current study was to examine the childhood predictors of adolescent reading comprehension in velo-cardio-facial syndrome (VCFS). Although much research has focused on mathematics skills among individuals with VCFS, no studies have examined predictors of reading comprehension. Methods: 69 late adolescents…

  8. 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.

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

    Science.gov (United States)

    Perko, Daša; Debeljak, Maruša; Toplak, Nataša; Avčin, Tadej

    2015-01-01

    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. PMID:25821352

  10. Internato Longitudinal

    Directory of Open Access Journals (Sweden)

    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.

  11. Adaptive and Maladaptive Correlates of Repetitive Behavior and Restricted Interests in Persons with Down Syndrome and Developmentally-Matched Typical Children: A Two-Year Longitudinal Sequential Design

    Science.gov (United States)

    Evans, David W.; Kleinpeter, F. Lee; Slane, Mylissa M.; Boomer, K. B.

    2014-01-01

    We examined the course of repetitive behavior and restricted interests (RBRI) in children with and without Down syndrome (DS) over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA) levels: “younger” 2–4 years; “older” 5–11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales) in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist) at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior. PMID:24710387

  12. Adaptive and maladaptive correlates of repetitive behavior and restricted interests in persons with down syndrome and developmentally-matched typical children: a two-year longitudinal sequential design.

    Directory of Open Access Journals (Sweden)

    David W Evans

    Full Text Available We examined the course of repetitive behavior and restricted interests (RBRI in children with and without Down syndrome (DS over a two-year time period. Forty-two typically-developing children and 43 persons with DS represented two mental age (MA levels: "younger" 2-4 years; "older" 5-11 years. For typically developing younger children some aspects of RBRI increased from Time 1 to Time 2. In older children, these aspects remained stable or decreased over the two-year period. For participants with DS, RBRI remained stable or increased over time. Time 1 RBRI predicted Time 2 adaptive behavior (measured by the Vineland Scales in typically developing children, whereas for participants with DS, Time 1 RBRI predicted poor adaptive outcome (Child Behavior Checklist at Time 2. The results add to the body of literature examining the adaptive and maladaptive nature of repetitive behavior.

  13. Asperger syndrome and "non-verbal learning problems" in a longitudinal perspective: neuropsychological and social adaptive outcome in early adult life.

    Science.gov (United States)

    Hagberg, Bibbi S; Nydén, Agneta; Cederlund, Mats; Gillberg, Christopher

    2013-12-15

    Co-existence of Asperger syndrome (AS) and non-verbal learning disability (NLD) has been proposed based on the observation that people with AS tend to have significantly higher verbal than performance IQ (VIQ > PIQ by ≥ 15 points), one of the core features of NLD. In the present study we examined neuropsychological and social adaptive profiles with "non-verbal learning problems" associated with NLD in a group of individuals with AS followed from childhood into early adult life. The group was divided into three subgroups: (i) persistent NLD (P-NLD), i.e. NLD (VIQ > PIQ) both in childhood and early adulthood occasions, (ii) childhood NLD (CO-NLD), i.e. NLD (VIQ > PIQ) only at original diagnosis, or (iii) No NLD (VIQ > PIQ) ever (NO-NLD). All three subgroups were followed prospectively from childhood into adolescence and young adult life. One in four to one in five of the whole group of males with AS had P-NLD. The P-NLD subgroup had poorer neuropsychological outcome in early adult life than did those with CO-NLD and those with NO-NLD. There were no unequivocal markers in early childhood that predicted subgroup status in early adult life, but early motor delay and a history of early speech-language problems tended to be associated with P-NLD. © 2013 Elsevier Ireland Ltd. All rights reserved.

  14. Coffee consumption is not related to the metabolic syndrome at the age of 36 years: the Amsterdam Growth and Health Longitudinal Study.

    Science.gov (United States)

    Driessen, M T; Koppes, L L J; Veldhuis, L; Samoocha, D; Twisk, J W R

    2009-04-01

    Coffee consumption has been postulated to decrease the risk of diabetes mellitus type II. The long-term effects of coffee consumption on the metabolic syndrome (MS) and its components are unknown. This study investigated the relationship of long-term coffee consumption between the age of 27 and 36 years with the prevalence of the MS at the age of 36 years. Data on coffee consumption and the MS components were derived from a healthy sample of 174 men and 194 women followed up from the age of 27 years onwards. Data analysis was performed with the use of generalized estimating equations and regression analysis. At the age of 36 years, the prevalence of the MS was 10.1%. The growth of coffee consumption did not differ significantly between subjects with or without the MS or its components. Regression analyses showed that one cup day(-1) higher coffee consumption was related to 0.11 mm Hg lower mean arterial blood pressure (P=0.03), 0.02 mg 100 ml(-1) higher triglyceride level (P=0.57), 0.04 mg 100 ml(-1) higher high-density lipoprotein cholesterol level (P=0.35), 0.09% higher HbA(1c) (P=0.12) and 0.02 cm larger waist circumference (P=0.57). After adjustment for physical activity, energy intake, smoking behaviour and alcohol consumption, none of the relationships between coffee consumption and the MS or its components was significant. Coffee consumption is not associated with the MS or its components in a healthy sample followed up for 9 years.

  15. Decline in lung function rather than baseline lung function is associated with the development of metabolic syndrome: A six-year longitudinal study

    Science.gov (United States)

    Baek, Jong-Ha; Jee, Jae Hwan; Hur, Kyu Yeon; Lee, Moon-Kyu

    2017-01-01

    This study was conducted to investigate whether baseline lung function or change in lung function is associated with the development of metabolic syndrome (MS) in Koreans. We analyzed clinical and laboratory data from 3,768 Koreans aged 40–60 years who underwent medical check-ups over a six-year period between 2006 and 2012. We calculated the percent change in forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) over the study period. We tested for an association between baseline lung function or lung function change during the follow-up period and the development of MS. The 533 subjects (14.1%) developed MS after the six-year follow-up. The baseline FVC and FEV1 were not different between the subjects who developed MS after six years and the subject without MS after six years. The percent change in FVC over six years in subjects who developed MS after six years was higher than that in subjects who did not develop MS (-5.75 [-10.19 –-1.17], -3.29 [-7.69–1.09], respectively, P = 0.001). The percent change in FVC over six years was associated with MS development after adjusting for age, sex, body mass index (BMI), glucose, HDL, triglyceride, waist circumferences (WC), and systolic blood pressure. However, these association was not significant after adjusting for change of BMI and change of WC over six years (P = 0.306). The greater change in vital capacity over six years of follow-up was associated with MS development, predominantly due to obesity and abdominal obesity. The prospective study is needed to determine the relationship between lung function decline and MS. PMID:28346522

  16. Temporal Biomarker Profiling Reveals Longitudinal Changes in Risk of Death or Myocardial Infarction in Non-ST-Segment Elevation Acute Coronary Syndrome.

    Science.gov (United States)

    Chan, Mark Y; Neely, Megan L; Roe, Matthew T; Goodman, Shaun G; Erlinge, David; Cornel, Jan H; Winters, Kenneth J; Jakubowski, Joseph A; Zhou, Chunmei; Fox, Keith A A; Armstrong, Paul W; White, Harvey D; Prabhakaran, Dorairaj; Ohman, E Magnus; Huber, Kurt

    2017-07-01

    There are conflicting data on whether changes in N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity C-reactive protein (hs-CRP) concentrations between time points (delta NT-proBNP and hs-CRP) are associated with a change in prognosis. We measured NT-proBNP and hs-CRP at 3 time points in 1665 patients with non-ST-segment elevation acute coronary syndrome (NSTEACS). Cox proportional hazards was applied to the delta between temporal measurements to determine the continuous association with cardiovascular events. Effect estimates for delta NT-proBNP and hs-CRP are presented per 40% increase as the basic unit of temporal change. Median NT-proBNP was 370.0 (25th, 75th percentiles, 130.0, 996.0), 340.0 (135.0, 875.0), and 267.0 (111.0, 684.0) ng/L; and median hs-CRP was 4.6 (1.7, 13.1), 1.9 (0.8, 4.5), and 1.8 (0.8, 4.4) mg/L at baseline, 30 days, and 6 months, respectively. The deltas between baseline and 6 months were the most prognostically informative. Every +40% increase of delta NT-proBNP (baseline to 6 months) was associated with a 14% greater risk of cardiovascular death (adjusted hazard ratio (HR) 1.14, 95% CI, 1.03-1.27) and with a 14% greater risk of all-cause death (adjusted HR 1.14, 95% CI, 1.04-1.26), while every +40% increase of delta hs-CRP (baseline to 6 months) was associated with a 9% greater risk of the composite end point (adjusted HR 1.09, 95% CI, 1.02-1.17) and a 10% greater risk of myocardial infarction (adjusted HR 1.10, 95%, CI 1.00-1.20). Temporal changes in NT-proBNP and hs-CRP are quantitatively associated with future cardiovascular events, supporting their role in dynamic risk stratification of NSTEACS. ClinicalTrials.gov identifier NCT00699998. © 2017 American Association for Clinical Chemistry.

  17. Laugier-Hunziker syndrome.

    Science.gov (United States)

    Nayak, Ramakant S; Kotrashetti, Vijayalakshmi S; Hosmani, Jagadish V

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by diffuse hyperpigmentation of the oral mucosa and longitudinal melanonychia in adults. They appear as macular lesions less than 5 mm in diameter. Laugier-Hunziker syndrome is considered to be a benign disease with no systemic manifestation or malignant potential. Therefore, it is important to rule out other mucocutaneous pigmentary disorders that do require medical management. Prompt clinical recognition also averts the need for excessive and invasive procedures and treatments. In India, the reported cases of this syndrome are very few. We provide a review of literature on Laugier-Hunziker syndrome with its differential diagnosis.

  18. 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.

  19. 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

    Science.gov (United States)

    Notara, Venetia; Kogias, Yannis; Stravopodis, Petros; Antonoulas, Antonis; Zombolos, Spyros; Mantas, Yannis; Pitsavos, Christos

    2016-01-01

    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, peducation group than in the intermediate-education and high-education groups (42% vs. 30% and 35%, peducation 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 (peffects 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. PMID:27499164

  20. Scheie syndrome

    Science.gov (United States)

    ... Hurler syndrome) MPS II (Hunter syndrome) MPS IV (Morquio syndrome) MPS III (Sanfilippo syndrome) Causes Scheie syndrome ... Autosomal recessive Cloudy cornea Hearing loss Hurler syndrome Morquio syndrome Review Date 4/20/2015 Updated by: ...

  1. Laugier Hunziker syndrome.

    Science.gov (United States)

    Jabbari, Ali; Gonzalez, Mercedes E; Franks, Andrew G; Sanchez, Miguel

    2010-11-15

    Laugier Hunziker syndrome is a rare disorder that is characterized by adult-onset hyperpigmented macules of the lips, oral cavity, and fingertips. Longitudinal melanonychia is present in the majority of cases. We present a 45-year-old woman with adult-onset hyperpigmented macules of the oral cavity as well as linear melanonychia that involved multiple fingernails. The history, clinical examination, and paucity of laboratory abnormalities or systemic findings support a diagnosis of Laugier Hunziker syndrome.

  2. 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

  3. Dysmobility syndrome: current perspectives

    Science.gov (United States)

    Hill, Keith D; Farrier, Kaela; Russell, Melissa; Burton, Elissa

    2017-01-01

    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. PMID:28144132

  4. Laugier-Hunziker syndrome - Case report*

    Science.gov (United States)

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison’s disease and Peutz-Jeghers syndrome. PMID:26312723

  5. Laugier-Hunziker syndrome--Case report.

    Science.gov (United States)

    Lalosevic, Jovan; Zivanovic, Dubravka; Skiljevic, Dusan; Medenica, Ljiljana

    2015-01-01

    Laugier-Hunziker syndrome is a rare, acquired disorder characterized by lenticular hyperpigmentation of the oral mucosa and longitudinal melanonychia. We present the case of a 63-year-old female with progressive, asymptomatic hyperpigmentation of buccal mucosa and a 7-year history of hyperpigmentation in several fingernails. Laugier-Hunziker syndrome was diagnosed based on the clinical features presented, dermoscopic findings and exclusion of underlying systemic diseases. Laugier-Hunziker syndrome is regarded as a diagnosis of exclusion. By identifying Laugier-Hunziker syndrome, other, more severe syndromes associated with hyperpigmentations can be excluded, namely Addison's disease and Peutz-Jeghers syndrome.

  6. Longitudinal impedance of RHIC

    Energy Technology Data Exchange (ETDEWEB)

    Blaskiewicz, M. [Brookhaven National Lab. (BNL), Upton, NY (United States); Brennan, J. M. [Brookhaven National Lab. (BNL), Upton, NY (United States); Mernick, K. [Brookhaven National Lab. (BNL), Upton, NY (United States)

    2015-05-03

    The longitudinal impedance of the two RHIC rings has been measured using the effect of potential well distortion on longitudinal Schottky measurements. For the blue RHIC ring Im(Z/n) = 1.5±0.2Ω. For the yellow ring Im(Z/n) = 5.4±1Ω.

  7. 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...

  8. 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...

  9. Dumping Syndrome

    Science.gov (United States)

    ... System & How it Works Digestive Diseases A-Z Dumping Syndrome What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ... the colon and rectum—and anus. What causes dumping syndrome? Dumping syndrome is caused by problems with ...

  10. Effects of Longitudinal Photons

    CERN Document Server

    Friberg, C; Friberg, Christer; Sjöstrand, Torbjörn

    2000-01-01

    The description of longitudinal photons is far from trivial, and their phenomenological importance is largely unknown. While the cross section for direct interactions is calculable, an even more important contribution could come from resolved states. In the development of our model for the interactions of (real and) virtual photons, we have modeled resolved longitudinal effects by simple multiplicative factors on the resolved transverse-photon contributions. Recently, a first set of parton distributions for longitudinal virtual photons has been presented by Ch\\'yla. We therefore compare their impact on some representative distributions, relative to the simpler approaches.

  11. Longitudinal Magnification Drawing Mistake

    Science.gov (United States)

    Rabal, Héctor; Cap, Nelly; Trivi, Marcelo

    2004-01-01

    Lateral magnification in image formation by positive lenses, mirrors, and dioptrics is usually appropriately developed in most optics textbooks.1-9 However, the image of a three-dimensional object occupies a three-dimensional region of space. The optical system affects both the transverse and the longitudinal dimensions of the object and, in general, does it in different ways. The magnification in the direction of the optical axis (the longitudinal magnification) is seldom treated. In several texts, the concept of longitudinal magnification is not even considered. Symmetrical objects (such as arrows) are used and their images appear laterally inverted. It is not shown how a longitudinally nonsymmetric object is imaged. One of the few books where this subject is well treated is in the textbook by Hecht.10 We have repeatedly verified in our classes that there is some confusion related to this subject. Students tend to believe that the image is longitudinally symmetric with respect to the lens optic center. Some prestigious texts commit the same mistake. In addition, a very nice optics book,11 a catalogue of optical hardware,12 a worldwide scientific magazine,13 a paper in an optics journal,14 and a Spanish encyclopedia,15 for example, have also been found to contain this error in drawing the image of a three-dimensional object formed by a positive lens. In this paper we suggest that the teaching of longitudinal magnification should be done with some care and we include a figure showing a properly drawn image.

  12. Cushing syndrome

    Science.gov (United States)

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

  13. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... two medicines that affect the body's level of serotonin are taken together at the same time. The ...

  14. 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

  15. Gardner Syndrome

    Science.gov (United States)

    ... Home > Types of Cancer > Gardner Syndrome Request Permissions Gardner Syndrome Approved by the Cancer.Net Editorial Board , 06/2014 What is Gardner syndrome? Gardner syndrome is a subtype of familial ...

  16. LONGITUDINAL SOLUTIONS IN RHIC.

    Energy Technology Data Exchange (ETDEWEB)

    BLASKIEWICZ,M.BRENNAN,J.M.FISCHER,W.CAMERON,P.WEI,J.LUQUE,A.SCHAMEL,H.

    2003-05-12

    Stable, coherent, longitudinal oscillations have been observed in the RHIC accelerator. Within the context of perturbation theory, the beam parameters and machine impedance suggest these oscillations should be Landau damped. When nonlinear effects are included, long lived, stable oscillations become possible for low intensity beams. Simulations and theory are compared with data.

  17. Metabolic Syndrome

    Science.gov (United States)

    ... hypertension, hypertriglyceridemia, insulin resistance syndrome, low HDL cholesterol, Metabolic Syndrome, overweight, syndrome x, type 2 diabetes Family Health, Kids and Teens, Men, Women January 2005 Copyright © American Academy of Family PhysiciansThis ...

  18. Marfan Syndrome

    Science.gov (United States)

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

  19. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the ...

  20. Fahr's Syndrome

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Fahr's Syndrome Information Page Fahr's Syndrome Information Page What research is being done? ... and conducts research on neurogenetic disorders such as Fahr's Syndrome. The goals of this research are to ...

  1. 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.

  2. DOWN SYNDROME WITH MOYAMOYA SYNDROME

    National Research Council Canada - National Science Library

    Mohan Makwana; R. K. Vishnoi; Jai Prakash Soni; Kapil Jetha; Suresh Kumar Verma; Pradeep Singh Rathore; Monika Choudhary

    2017-01-01

    ...,” in which the arterial changes are seen among patients with various syndromes or other disease processes- Down syndrome, sickle cell anaemia, neurofibromatosis type-1, congenital heart disease...

  3. Kindler syndrome

    Directory of Open Access Journals (Sweden)

    Kaviarasan P

    2005-01-01

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

  4. The Growth of Reading Skills in Children with Down Syndrome

    Science.gov (United States)

    Hulme, Charles; Goetz, Kristina; Brigstocke, Sophie; Nash, Hannah M.; Lervag, Arne; Snowling, Margaret J.

    2012-01-01

    There appears to be a close and probably causal relationship between early variations in phoneme skills and later reading skills in typically developing children, though the pattern in children with Down Syndrome is less clear. We present the results of a 2-year longitudinal study of 49 children with Down Syndrome (DS) and 61 typically developing…

  5. The Growth of Reading Skills in Children with Down Syndrome

    Science.gov (United States)

    Hulme, Charles; Goetz, Kristina; Brigstocke, Sophie; Nash, Hannah M.; Lervag, Arne; Snowling, Margaret J.

    2012-01-01

    There appears to be a close and probably causal relationship between early variations in phoneme skills and later reading skills in typically developing children, though the pattern in children with Down Syndrome is less clear. We present the results of a 2-year longitudinal study of 49 children with Down Syndrome (DS) and 61 typically developing…

  6. Laugier-hunziker syndrome in a patient with pancreatic cancer.

    Science.gov (United States)

    Wondratsch, Hannes; Feldmann, Robert; Steiner, Andreas; Breier, Friedrich

    2012-05-01

    Laugier-Hunziker syndrome is a rare acquired disorder characterized by macular hyperpigmentation of the oral and occasionally genital mucosa as well as longitudinal melanonychia. It is considered a benign condition without systemic manifestation or malignant potential. We report on a woman who concomitantly developed Laugier-Hunziker syndrome and a carcinoma of the pancreas.

  7. 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.

  8. The Laugier-Hunziker syndrome.

    Science.gov (United States)

    Mahmood, Tahmina; Menter, Alan

    2015-01-01

    We describe a 46-year-old Hispanic woman who was incidentally found to have hyperpigmentation of the oral mucosa and nails during a routine full body skin examination. The patient reported having these changes for years with no symptoms. A diagnosis of the Laugier-Hunziker syndrome (LHS) was made. LHS is an acquired, benign condition characterized by pigmentary skin changes involving the oral mucosa and is often associated with longitudinal melanonychia.

  9. 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.

  10. 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....

  11. 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....

  12. Disease: H00935 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available unt for about 90% and mutations in CLCF1 account for about 10% of CISS and CRISPS. ...co M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V Mutations in cytokine receptor-like factor 1 (CRLF1) account...duced sweating syndrome (CISS) and Crisponi syndrome (CRISPS) are inherited in an autosomal recessive manner. Mutations in CRLF1 acco

  13. Syndromic autism: II. Genetic syndromes associated with autism

    National Research Council Canada - National Science Library

    Artigas-Pallarés, J; Gabau-Vila, E; Guitart-Feliubadaló, M

    2005-01-01

    ..., tuberous sclerosis, Duchenne's disease, Timothy syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert...

  14. Edwards' syndrome.

    Science.gov (United States)

    Crawford, Doreen; Dearmun, Annette

    2016-12-08

    Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.

  15. Dravet Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  16. Paraneoplastic Syndromes

    Science.gov (United States)

    ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ... dementia, seizures, sensory loss in the limbs, and vertigo or dizziness. Paraneoplastic syndromes include Lambert-Eaton myasthenic ...

  17. 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 ...

  18. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone ... cause your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  19. Lynch Syndrome

    Science.gov (United States)

    ... colon cancer may include surgery, chemotherapy and radiation therapy. Cancer screening for people with Lynch syndrome If you ... et al. Milestones of Lynch syndrome: 1895-2015. Nature Reviews Cancer. http://www.nature.com/nrc/journal/vaop/ncurrent/ ...

  20. Metabolic Syndrome

    Science.gov (United States)

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

  1. Meckel syndrome

    National Research Council Canada - National Science Library

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases...

  2. Angelman Syndrome

    Science.gov (United States)

    ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ... this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause ...

  3. Apert Syndrome.

    Science.gov (United States)

    Datta, Saikat; Saha, Sandip; Kar, Arnab; Mondal, Souvonik; Basu, Syamantak

    2014-09-01

    Apert syndrome is one of the craniosynostosis syndromes which, due to its association with other skeletal anomalies, is also known as acrocephalosyndactyly. It is a rare congenital anomaly which stands out from other craniosynostosis due to its characteristic skeletal presentations.

  4. Learning about Down Syndrome

    Science.gov (United States)

    ... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

  5. Velocardiofacial Syndrome

    Science.gov (United States)

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

    2009-01-01

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

  6. Fraser syndrome

    Directory of Open Access Journals (Sweden)

    Kalpana Kumari M

    2008-04-01

    Full Text Available Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly and abnormal genitalia. The diagnosis of this syndrome can be made on clinical examination and perinatal autopsy. We present the autopsy findings of a rare case of Fraser syndrome in a male infant.

  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. Wallenberg's Syndrome

    Science.gov (United States)

    ... Information Page You are here Home » Disorders » All Disorders Wallenberg's Syndrome Information Page Wallenberg's Syndrome Information Page What ... better ways to prevent, treat, and ultimately cure disorders such as Wallenberg’s syndrome. Information from the National Library of Medicine’s ...

  9. Refeeding syndrome.

    Science.gov (United States)

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

    2009-01-01

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

  10. [Metabolic syndrome].

    Science.gov (United States)

    Mitsuishi, Masanori; Miyashita, Kazutoshi; Itoh, Hiroshi

    2009-02-01

    Metabolic syndrome, which is consisted of hypertension, dyslipidemia and impaired glucose tolerance, is one of the most significant lifestyle-related disorders that lead to cardiovascular diseases. Among many upstream factors that are related to metabolic syndrome, obesity, especially visceral obesity, plays an essential role in its pathogenesis. In recent studies, possible mechanisms which connect obesity to metabolic syndrome have been elucidated, such as inflammation, abnormal secretion of adipokines and mitochondrial dysfunction. In this review, we focus on the relationship between obesity and metabolic syndrome; and illustrate how visceral obesity contributes to, and how the treatments for obesity act on metabolic syndrome.

  11. [Autoinflammatory syndrome].

    Science.gov (United States)

    Ida, Hiroaki; Eguchi, Katsumi

    2009-03-01

    The autoinflammatory syndromes include a group of inherited diseases that are characterized by 1) seemingly unprovoked episodes of systemic inflammations, 2) absence of high titer of autoantibody or auto-reactive T cell, and 3) inborn error of innate immunity. In this article, we will focus on the clinical features, the pathogenesis related the genetic defects, and the therapeutic strategies in the representative disorders including familial Mediterranean fever (FMF), TNF receptor associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), hyper-IgD with periodic fever syndrome (HIDS), syndrome of pyogenic arthritis with pyoderma gangrenosum and acne (PAPA), and Blau syndrome. Recent advances in genetics and molecular biology have proceeded our understanding of the pathogenesis of autoinflammatory syndromes.

  12. Wellens' syndrome

    Directory of Open Access Journals (Sweden)

    Franco Lai

    2007-12-01

    Full Text Available We report a case of quite rare cause of thoracic pain suspected by emergency physician as Wellens’ syndrome. Wellens’ syndrome is a pattern of electrocardiographic T-wave changes associated with critical, proximal left anterior descending artery (LAD. This syndrome is about 10-15% of all unstable angina in emergency department (ED. The cardiologic consult was obtained in ED and it was not conclusive for a Wellens’ syndrome, so that the diagnostistic planning was wrong. The authors point out the importance of this syndrome in ED and the necessity of an urgent angiographic study as every acute coronary syndrome presented in ED. We remark the importance in ED to recognize these changes associated with critical LAD obstruction and the high risk for anterior wall myocardial infarction.

  13. [Autoinflammatory syndromes].

    Science.gov (United States)

    Lamprecht, P; Gross, W L

    2009-06-01

    In its strict sense, the term "autoinflammatory syndromes" comprises the hereditary periodic fever syndromes (HPF), which are caused by mutations of pattern-recognition receptors (PRR) and perturbations of the cytokine balance. These include the crypyrinopathies, familial Mediterranean fever, TNF-receptor associated periodic fever syndrome (TRAPS), hyper-IgD and periodic syndrome (HIDS), pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, NALP12-HPF, and the Blau syndrome. The diseases are characterized by spontaneous activation of cells of the innate immunity in the absence of ligands. Autoantibodies are usually not found. HPF clinically present with recurrent fever episodes and inflammation, especially of serosal and synovial interfaces and the skin. Intriguingly, PRR-mediated autoinflammtory mechanisms also play a role in a number of chronic inflammatory and autoimmune diseases.

  14. [Longitudinal study of the metabolic syndrome after kidney transplantation].

    Science.gov (United States)

    Fernández Castillo, Rafael; Fernández Gallegos, Ruth; Zaragoza Fernández, Gloria María

    2014-09-12

    Introducción: La aparición del síndrome metabólico (SM) entre los receptores renales es una de la mayores complicaciones postrasplante y se asocia con un mayor riesgo de fracaso del injerto y altas tasas de obesidad y diabetes de nueva aparición. Objetivos: Este estudio tiene como objetivo investigar la prevalencia y factores de riesgo asociados al desarrollo del SM y evaluar la asociación del mismo con la disfunción del injerto. Métodos: La muestras estuvo formada por 138 pacientes trasplantados renales, 83 hombres y 55 mujeres, trasplantados renales, que asistieron durante cinco años a la consulta postrasplante. Se analizaron como posibles factores de riesgo para DMPT: edad, sexo, índice de masa corporal (IMC), peso, hipertensión, diabetes, LDL, HDL, triglicéridos en suero y terapia inmunosupresora (Ciclosporina, tacrolimus, micofenolato mofetil), también se evaluó la prevalencia de episodios de rechazo agudo y función renal. Resultados: La prevalencia de SM fue del 39,85%. Como factores de riesgo estadísticamente significativos se obtuvieron el IMC, sobrepeso, niveles colesterol HDL, triglicéridos y LDL así como la hipertensión y la diabetes. Se obtuvieron altas tasas de rechazo agudo y diferencias en cuento a la tasa de filtración glomerular. Conclusiones: Existe una alta prevalencia del SM que compromete gravemente la funcion renal y la supervivencia del injerto en pacientes trasplantados renales, Es importantisimo el control y seguimiento estricto de todos los factores de riesgo identificados.

  15. 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.

  16. Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Basanti Devi

    2013-01-01

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

  17. Gorlin syndrome.

    Science.gov (United States)

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

    2013-05-01

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

  18. Metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Gogia Atul

    2006-02-01

    Full Text Available The Metabolic syndrome is a widely prevalent and multi-factorial disorder. The syndrome has been given several names, including- the metabolic syndrome, the insulin resistance syndrome, the plurimetabolic syndrome, and the deadly quartet. With the formulation of NCEP/ATP III guidelines, some uniformity and standardization has occurred in the definition of metabolic syndrome and has been very useful for epidemiological purposes. The mechanisms underlying the metabolic syndrome are not fully known; however resistance to insulin stimulated glucose uptake seems to modify biochemical responses in a way that predisposes to metabolic risk factors. The clinical relevance of the metabolic syndrome is related to its role in the development of cardiovascular disease. Management of the metabolic syndrome involves patient-education and intervention at various levels. Weight reduction is one of the main stays of treatment. In this article we comprehensively discuss this syndrome- the epidemiology, pathogenesis, clinical relevance and management. The need to do a comprehensive review of this particular syndrome has arisen in view of the ever increasing incidence of this entitiy. Soon, metabolic syndrome will overtake cigarette smoking as the number one risk factor for heart disease among the US population. Hardly any issue of any primary care medical journal can be opened without encountering an article on type 2 diabetes, dyslipidemia or hypertension. It is rare to see type 2 diabetes, dyslipidemia, obesity or hypertension in isolation. Insulin resistance and resulting hyperinsulinemia have been implicated in the development of glucose intolerance (and progression to type 2 diabetes, hypertriglyceridemia, hypertension, polycystic ovary yndrome, hypercoagulability and vascular inflammation, as well as the eventual development of atherosclerotic cardiovascular disease manifested as myocardial infarction, stroke and myriad end organ diseases. Conversely

  19. 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.

  20. Longitudinal Wobbling in $^{133}$La

    CERN Document Server

    Biswas, S; Garg, U; Bhat, G H; Frauendorf, S; Li, W; Sheikh, J A; Sethi, J; Saha, S; Singh, Purnima; Choudhury, D; Matta, J T; Ayangeakaa, A D; Dar, W >; Singh, V; Sihotra, S

    2016-01-01

    Excited states of $^{133}$La have been investigated to search for the wobbling excitation mode in the low-spin regime. Wobbling bands with $n_\\omega$ = 0 and 1 are identified along with the interconnecting $\\Delta I$ = 1, $E2$ transitions, which are regarded as fingerprints of the wobbling motion. An increase in wobbling frequency %of the $n_\\omega$ = 1 band with spin implies longitudinal wobbling for $^{133}$La, in contrast with the case of transverse wobbling observed in $^{135}$Pr. This is the first observation of a longitudinal wobbling band in nuclei. The experimental observations are accounted for by calculations using the quasiparticle triaxial rotor with harmonic frozen approximation and the triaxial projected shell model approaches, which attribute the appearance of longitudinal wobbling to the early alignment of an h$_{11/2}$ neutron pair.

  1. 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.

  2. 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

  3. 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....

  4. 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, causi...

  5. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ravinder K. Gupta, Ritu Gupta, Sunil Dutt Sharma

    2006-10-01

    Full Text Available Turner Syndrome is one of the important chromosomal disorders characterised by loss (total or part ofsex chromosome. The manifestations being peripheral edema, short stature, extra skin fold, webbing ofneck, renal and cardiovascular anomalies, sexual infantilism, learning disability etc. We present here aone month female baby who had classical features of Turner Syndrome. The karyotape analysis wasconsistent with the diagnosis.

  6. Myelodysplastic Syndromes

    Science.gov (United States)

    ... your body, the white blood cells that fight infections, and the platelets that help with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy blood cells. ... anemia, or easy bleeding. Myelodysplastic syndromes often do ...

  7. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    George Renu

    1993-01-01

    Full Text Available A case of proteus syndrome in a 20 year old male is repoted. Hemihypertrophy, asymmetric megalodactyly, linear epidermal naevus, naevus flammeus, angiokeratoma, lymphangioma circumscriptum, thickening of the palms and soles, scoliosis and varicose veins were present. There are only few reports of these cases in adults. The syndrome has not been reported from India.

  8. Franceschetti syndrome

    Directory of Open Access Journals (Sweden)

    Vikrant Kasat

    2011-01-01

    Full Text Available Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is commonly known as Treacher Collins syndrome (TCS. It is named after E. Treacher Collins who described the essential components of the condition. It affects both genders equally. This article reports a case of TCS in an 18-year-old female.

  9. LEOPARD syndrome

    Science.gov (United States)

    ... L, Strano S, Carbone A, Calvieri C, Giustini S. LEOPARD syndrome. Dermatol Online J . 2008;14(3):7. PMID: 18627709 www.ncbi.nlm.nih.gov/pubmed/18627709 . Sarkozy A, Digilio MC, Dallapiccola B. LEOPARD syndrome. Orphanet J Rare Dis . 2008;3:13. PMID: ...

  10. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Akcan AB.

    2013-06-01

    Full Text Available Turner syndrome is an important cause of short stature in girls and primer amenorrhea in young women that is usually caused by loss of part or all of an X chromosome. This topic will review the clinical manifestations, diagnosis and management of Turner syndrome.

  11. Poland syndrome

    OpenAIRE

    Chandra Madhur Sharma; Shrawan Kumar; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  12. Poland syndrome

    Directory of Open Access Journals (Sweden)

    Chandra Madhur Sharma

    2014-01-01

    Full Text Available Poland′s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  13. Students dance longitudinal standing waves

    Science.gov (United States)

    Ruiz, Michael J.

    2017-05-01

    A demonstration is presented that involves students dancing longitudinal standing waves. The resulting kinaesthetic experience and visualization both contribute towards an understanding of the natural modes of vibrations in open and closed pipes. A video of this fun classroom activity is provided (http://mjtruiz.com/ped/dance/).

  14. 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...

  15. Correspondence analysis of longitudinal data

    NARCIS (Netherlands)

    Van der Heijden, P.G.M.

    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 categories

  16. Longitudinal health effects of disasters.

    NARCIS (Netherlands)

    Yzermans, C.J.

    2004-01-01

    Background: We carry out prospective, longitudinal studies on the possible health effects of two disasters in the Netherlands: the explosion of fireworks depot in a residential area (Enschede) and a fire in discotheque in Volendam. Learning from the chaotic aftermath previous disasters, the Dutch g

  17. 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 categories

  18. 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...... 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....

  19. Development of refractive error and strabismus in children with Down syndrome

    NARCIS (Netherlands)

    Cregg, M; Woodhouse, JM; Stewart, Ruth E.; Pakeman, VH; Bromham, NR; Gunter, HL; Trojanowska, L; Parker, M; Fraser, WI

    2003-01-01

    PURPOSE. To investigate the development of refractive errors and strabismus in a cohort of children with Down syndrome. METHOD. Data for 55 children with Down syndrome who are participating in this longitudinal study of visual development, first examined by us when aged less than 2 years and on at l

  20. The Prevalence and Incidence of Mental Ill-Health in Adults with Down Syndrome

    Science.gov (United States)

    Mantry, D.; Cooper, S. -A.; Smiley, E.; Morrison, J.; Allan, L.; Williamson, A.; Finlayson, J.; Jackson, A.

    2008-01-01

    Background: While there is considerable literature on adults with Down syndrome who have dementia, there is little published on the epidemiology of other types of mental ill-health in this population. Method: Longitudinal cohort study of adults with Down syndrome who received detailed psychiatric assessment (n = 186 at the first time point; n =…

  1. Dysregulation of the Autonomic Nervous System Predicts the Development of the Metabolic Syndrome

    NARCIS (Netherlands)

    Licht, Carmilla M. M.; de Geus, Eco J. C.; Penninx, Brenda W. J. H.

    Context: Stress is suggested to lead to metabolic dysregulations as clustered in the metabolic syndrome. Although dysregulation of the autonomic nervous system is found to associate with the metabolic syndrome and its dysregulations, no longitudinal study has been performed to date to examine the

  2. Dysregulation of the Autonomic Nervous System Predicts the Development of the Metabolic Syndrome

    NARCIS (Netherlands)

    Licht, Carmilla M. M.; de Geus, Eco J. C.; Penninx, Brenda W. J. H.

    2013-01-01

    Context: Stress is suggested to lead to metabolic dysregulations as clustered in the metabolic syndrome. Although dysregulation of the autonomic nervous system is found to associate with the metabolic syndrome and its dysregulations, no longitudinal study has been performed to date to examine the pr

  3. Prevalent Hallucinations during Medical Internships: Phantom Vibration and Ringing Syndromes

    OpenAIRE

    Yu-Hsuan Lin; Sheng-Hsuan Lin; Peng Li; Wei-Lieh Huang; Ching-Yen Chen

    2013-01-01

    BACKGROUND: Phantom vibration syndrome is a type of hallucination reported among mobile phone users in the general population. Another similar perception, phantom ringing syndrome, has not been previously described in the medical literature. METHODS: A prospective longitudinal study of 74 medical interns (46 males, 28 females; mean age, 24.8±1.2 years) was conducted using repeated investigations of the prevalence and associated factors of phantom vibration and ringing. The accompanying sympto...

  4. Polycystic ovary syndrome

    DEFF Research Database (Denmark)

    Aziz, M; Naver, Klara; Wissing, Marie Louise Muff

    2012-01-01

    Objectives: The primary objective of this multicenter study is to evaluate the relative impact of insulin resistance (IR) and body mass index (BMI) in women with polycystic ovary syndrome (PCOS) on (1) Key hemodynamic/thrombogenic variables, (2) Oocyte quality and early embryo development, (3) Fe...... biochemical markers of growth and inflammation and clinical pregnancy complications. Main outcome measures: Metabolic and hemostatic risk-biomarkers, oocyte and embryo quality, adverse pregnancy outcome, fetal growth and placental function in women with PCOS.......Objectives: The primary objective of this multicenter study is to evaluate the relative impact of insulin resistance (IR) and body mass index (BMI) in women with polycystic ovary syndrome (PCOS) on (1) Key hemodynamic/thrombogenic variables, (2) Oocyte quality and early embryo development, (3......) Fetal growth, placental function and adverse obstetric outcome. Secondary objective: To establish a PCOS database and biobank facilitating future basic and interventional research related to PCOS. Design: A cross-sectional and longitudinal cohort study at four University Hospitals in Denmark. Population...

  5. CHARGE syndrome

    Directory of Open Access Journals (Sweden)

    Prasad Chitra

    2006-09-01

    Full Text Available Abstract CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness. In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies and minor criteria of CHARGE syndrome. Individuals with all four major characteristics or three major and three minor characteristics are highly likely to have CHARGE syndrome. However, there have been individuals genetically identified with CHARGE syndrome without the classical choanal atresia and coloboma. The reported incidence of CHARGE syndrome ranges from 0.1–1.2/10,000 and depends on professional recognition. Coloboma mainly affects the retina. Major and minor congenital heart defects (the commonest cyanotic heart defect is tetralogy of Fallot occur in 75–80% of patients. Choanal atresia may be membranous or bony; bilateral or unilateral. Mental retardation is variable with intelligence quotients (IQ ranging from normal to profound retardation. Under-development of the external genitalia is a common finding in males but it is less apparent in females. Ear abnormalities include a classical finding of unusually shaped ears and hearing loss (conductive and/or nerve deafness that ranges from mild to severe deafness. Multiple cranial nerve dysfunctions are common. A behavioral phenotype for CHARGE syndrome is emerging. Mutations in the CHD7 gene (member of the chromodomain helicase DNA protein family are detected in over 75% of patients with CHARGE syndrome. Children with CHARGE syndrome require intensive medical management as well as numerous surgical interventions. They also need multidisciplinary follow up. Some of the hidden issues of CHARGE syndrome are often forgotten, one being the feeding adaptation of these children, which needs an early aggressive approach from a feeding team. As the child

  6. CLOVES syndrome.

    Science.gov (United States)

    Bloom, Jacob; Upton, Joseph

    2013-12-01

    A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes.

  7. Hubris syndrome.

    Science.gov (United States)

    Owen, David

    2008-08-01

    Hubris syndrome is associated with power, more likely to manifest itself the longer the person exercises power and the greater the power they exercise. A syndrome not to be applied to anyone with existing mental illness or brain damage. Usually symptoms abate when the person no longer exercises power. It is less likely to develop in people who retain a personal modesty, remain open to criticism, have a degree of cynicism or well developed sense of humour. Four heads of government in the last 100 years are singled out as having developed hubris syndrome: David Lloyd George, Margaret Thatcher, George W Bush and Tony Blair.

  8. HYDROLETHALUS SYNDROME

    Directory of Open Access Journals (Sweden)

    Aradhana

    2013-06-01

    Full Text Available INTRODUCTION: Hydrolethalus Syndrome (HLS is a rare lethal genetic syndrome, recognized as a consequence of a study on Meckle syndrome in Finland .1 HLS is characterized by multiple developmental defects of fetus which include fetal hydrocephalus, agenesis of corpus callosum, absent midline structures of brain, Cleft lip and cleft palate, defective lobulation of lungs, micrognathia and very characteristic abnormality of polydactyly. About 80% of patients have polydactyly, in hands it is postaxial and preaxial in feet with duplicated big toe. A highly characteristic hallux duplex is seen in almost no other situation .2 Club feet is also common.

  9. Neuroacanthocytosis Syndromes

    Directory of Open Access Journals (Sweden)

    Walker Ruth H

    2011-10-01

    Full Text Available Abstract Neuroacanthocytosis (NA syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome which have a Huntington´s disease-like phenotype consisting of a choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional multi-system features including myopathy and axonal neuropathy. In addition, cardiomyopathy may occur in McLeod syndrome. Acanthocytes are also found in a proportion of patients with autosomal dominant Huntington's disease-like 2, autosomal recessive pantothenate kinase-associated neurodegeneration and several inherited disorders of lipoprotein metabolism, namely abetalipoproteinemia (Bassen-Kornzweig syndrome and hypobetalipoproteinemia leading to vitamin E malabsorption. The latter disorders are characterized by a peripheral neuropathy and sensory ataxia due to dorsal column degeneration, but movement disorders and cognitive impairment are not present. NA syndromes are caused by disease-specific genetic mutations. The mechanism by which these mutations cause neurodegeneration is not known. The association of the acanthocytic membrane abnormality with selective degeneration of the basal ganglia, however, suggests a common pathogenetic pathway. Laboratory tests include blood smears to detect acanthocytosis and determination of serum creatine kinase. Cerebral magnetic resonance imaging may demonstrate striatal atrophy. Kell and Kx blood group antigens are reduced or absent in McLeod syndrome. Western blot for chorein demonstrates absence of this protein in red blood cells of chorea-acanthocytosis patients. Specific genetic testing is possible in all NA syndromes

  10. Jerusalem syndrome.

    Science.gov (United States)

    Bar-el, Y; Durst, R; Katz, G; Zislin, J; Strauss, Z; Knobler, H Y

    2000-01-01

    Jerusalem's psychiatrists expect to encounter, as the millennium approaches, an ever-increasing number of tourists who, upon arriving in Jerusalem, may suffer psychotic decompensation. To describe the Jerusalem syndrome as a unique acute psychotic state. This analysis is based on accumulated clinical experience and phenomenological data consisting of cultural and religious perspectives. Three main categories of the syndrome are identified and described, with special focus on the category pertaining to spontaneous manifestations, unconfounded by previous psychotic history or psychopathology. The discrete form of the Jerusalem syndrome is related to religious excitement induced by proximity to the holy places of Jerusalem, and is indicated by seven characteristic sequential stages.

  11. [Autoinflammatory syndromes/fever syndromes].

    Science.gov (United States)

    Schedel, J; Bach, B; Kümmerle-Deschner, J B; Kötter, I

    2011-05-01

    Hereditary periodic (fever) syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or joint symptoms. Some of these disorders present with organ involvement and serological signs of inflammation without fever. There is a strong serological inflammatory response with an elevation of serum amyloid A (SAA), resulting in an increased risk of secondary amyloidosis. There are monogenic disorders (familial mediterranean fever (FMF), hyper-IgD-syndrome (HIDS), cryopyrin-associated periodic syndromes (CAPS), "pyogenic arthritis, acne, pyoderma gangrenosum" (PAPA), and "pediatric granulomatous arthritis (PGA) where mutations in genes have been described, which in part by influencing the function of the inflammasome, in part by other means, lead to the induction of the production of IL-1β. In "early-onset of enterocolitis (IBD)", a functional IL-10 receptor is lacking. Therapeutically, above all, the IL-1 receptor antagonist anakinra is used. In case of TRAPS and PGA, TNF-antagonists (etanercept) may also be used; in FMF colchicine is first choice. As additional possible autoinflammatory syndromes, PFAPA syndrome (periodic fever with aphthous stomatitis, pharyngitis and adenitis), Schnitzler syndrome, Still's disease of adult and pediatric onset, Behçet disease, gout, chronic recurrent multifocal osteomyelitis (CRMO) and Crohn's disease also are mentioned.

  12. [Neuromyelitis optica spectrum disorders as initial presentation of Sjögren's syndrome: A case report].

    Science.gov (United States)

    Alva Díaz, Carlos; Andamayo Villalba, Luis; Mori, Nicanor; Ventura Chilón, Jésica Janet; Romero, Roberto

    2016-02-29

    Neuromyelitis Optica Spectrum Disorder (NMOSD) is a rare systemic autoimmune disease which is sometimes found in association with other autoimmune disorders including Sjogren's syndrome. Neurological manifestations occur in 20% to 25% of diagnosed cases of Sjögren's syndrome; however, less than 5% of patients with Sjögren's syndrome have neurological manifestations as the initial presenting feature of Sjögren's syndrome. We report the case of an elderly female with longitudinal myelitis as a presenting feature who had positive antibody to aquaporin-4 (NMO-IgG) and Sjögren's syndrome.

  13. Longitudinal peak detected Schottky spectrum

    CERN Document Server

    Shaposhnikova, E

    2009-01-01

    The "peak detected Schottky" spectrum is a diagnostic used since the late seventies for beam observation in the SPS and now already applied to the LHC. This tool was always believed, however without proof, to give a good picture of the particle distribution in synchrotron frequencies similar to the longitudinal Schottky spectrum of unbunched beam for revolution frequencies.In this paper an analysis of this measurement technique is presented both in a general form and for the particular realisation in the SPS. In addition the limitations of the present experimental set-up are discussed together with possible improvements. The analysis shows that for an optimised experimental set-up the spectrum of the peak detected signal is very close to the synchrotron frequency distribution inside the bunch - much closer than that given by the traditional longitudinal bunched-beam Schottky spectrum.

  14. The Importance of Longitudinal Studies

    Science.gov (United States)

    Knezek, Patricia

    2014-01-01

    It has been eight years since the AAS Council unanimously endorsed the document, known as "Equity Now: The Pasadena Recommendations for Gender Equality in Astronomy," in January 2005. This document was the main product of the conference entitled “Women in Astronomy II: Ten Years After” (WIA II), held in June 2003 in Pasadena, CA. One of the key recommendations represented in that document was the need for a longitudinal study of astronomers. It was recognized that in order to understand our own field, how it is evolving, and the impact on individuals, we need to track people over time. I will discuss the fundamental questions that led to the recommendation, and set the stage for the current (ongoing) longitudinal study.

  15. LONGITUDINAL LASER WIRE AT SNS

    Energy Technology Data Exchange (ETDEWEB)

    Aleksandrov, Alexander V [ORNL; Liu, Yun [ORNL; Zhukov, Alexander P [ORNL

    2014-01-01

    This paper describes a longitudinal H- beam profile scanner that utilizes laser light to detach convoy electrons and an MCP to collect and measure these electrons. The scanner is located in MEBT with H- energy of 2.5MeV and an RF frequency 402.5MHz. The picosecond pulsed laser runs at 80.5MHz in sync with the accelerator RF. The laser beam is delivered to the beam line through a 30m optical fiber. The pulse width after the fiber transmission measures about 10ps. Scanning the laser phase effectively allows measurements to move along ion bunch longitudinal position. We are able to reliably measure production beam bunch length with this method. The biggest problem we have encountered is background signal from electrons being stripped by vacuum. Several techniques of signal detection are discussed.

  16. Longitudinal dynamics in storage rings

    Energy Technology Data Exchange (ETDEWEB)

    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.

  17. Marfan syndrome

    Science.gov (United States)

    ... at least once every year. Alternative Names Aortic aneurysm - ... syndrome. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 702. ...

  18. Reye Syndrome

    Science.gov (United States)

    ... A Life After Diagnosis Support for Chronic Illness Corporate Partnerships Interview with Kristen Hanks Liver Lowdown July ... poor blood clotting and bleeding caused by liver failure. What are the symptoms of Reye syndrome? Reye ...

  19. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    2016-01-01

    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.

  20. Premenstrual syndrome

    National Research Council Canada - National Science Library

    Kwan, Irene; Onwude, Joseph Loze

    2015-01-01

    A woman has premenstrual syndrome (PMS) if she complains of recurrent psychological and/or physical symptoms occurring during the luteal phase of the menstrual cycle, and often resolving by the end of menstruation...

  1. Zellweger Syndrome

    Science.gov (United States)

    ... done? The National Institute of Neurological Disorders and Stroke (NINDS), and other institutes of the National Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  2. Autoinflammatory syndromes.

    Science.gov (United States)

    Galeazzi, M; Gasbarrini, G; Ghirardello, A; Grandemange, S; Hoffman, H M; Manna, R; Podswiadek, M; Punzi, L; Sebastiani, G D; Touitou, I; Doria, A

    2006-01-01

    The autoinflammatory disorders are a new and expanding classification of inflammatory diseases characterized by recurrent episodes of systemic inflammation in the absence of pathogens, autoantibodies or antigen specific T cells. These disorders are caused by primary dysfunction of the innate immune system, without evidence of adaptive immune dysregulation. Innate immune abnormalities include aberrant responses to pathogen associated molecular patterns (PAMPs) like lipopolysaccharide and peptidoglycan, prominent neutrophilia in blood and tissues, and dysregulation of inflammatory cytokines (IL-1beta, TNF-alpha) or their receptors. The autoinflammatory diseases comprise both hereditary (Familial Mediterranean Fever, FMF; Mevalonate Kinase Deficiency, MKD; TNF Receptor Associated Periodic Syndrome, TRAPS; Cryopyrin Associated Periodic Syndrome, CAPS; Blau syndrome; Pyogenic sterile Arthritis, Pyoderma gangrenosum and Acne syndrome, PAPA; Chronic Recurrent Multifocal Osteomyelitis, CRMO) and multifactorial (Crohn's and Behçet's diseases) disorders. Mutations responsible for FMF, TRAPS, CAPS, PAPA are in proteins involved in modulation of inflammation and apoptosis.

  3. Piriformis Syndrome

    Science.gov (United States)

    ... of sitting for a long period of time, climbing stairs, walking, or running. × Definition Piriformis syndrome is a ... of sitting for a long period of time, climbing stairs, walking, or running. View Full Definition Treatment Generally, ...

  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,...

  5. Bart syndrome

    Directory of Open Access Journals (Sweden)

    Gaikwad Anil

    1993-01-01

    Full Text Available An infant presenting with extensive aplasia cutis on lower extremities later developed blisters on skin and mucous membrane. Clinical features and histopathological examination of skin favoured the diagnosis of Bart syndrome.

  6. Neurocutaneous Syndromes

    Science.gov (United States)

    ... affect kids include: neurofibromatosis, types 1 and 2 (NF1 and NF2) Sturge-Weber syndrome tuberous sclerosis (TS) ... forms of this disorder are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and Schwannomatosis. NF1 is ...

  7. Usher Syndrome

    Science.gov (United States)

    ... optic nerve (arrow) looks very pale, the vessels (stars) are very thin and there is characteristic pigment, ... syndrome gene have a child together, with each birth there is a: 1-in-4 chance of ...

  8. 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...

  9. Beals Syndrome

    Science.gov (United States)

    ... arachnoldactyly (CCA), which refers to the joint contractures (shortening) that are key features of the syndrome. How ... remain contracted for long periods of time, the muscles can become tight and short, restricting movement. When ...

  10. Isaac's Syndrome

    Science.gov (United States)

    ... Page NINDS Wernicke-Korsakoff Syndrome Information Page NINDS Whiplash Information Page NINDS Infantile Spasms Information Page NINDS ... Support Library Clinical Research Next Steps Pre-Funding: After Review Terms of Award Pre-Award Start-up ...

  11. Noonan syndrome

    Science.gov (United States)

    ... chest shape (most often a sunken chest called pectus excavatum) Webbed and short-appearing neck Exams and Tests ... to consider genetic counseling before having children. Images Pectus excavatum References Ali O, Donohoue PA. Noonan syndrome. In: ...

  12. Dressler's Syndrome

    Science.gov (United States)

    ... syndrome can cause more-serious complications, including: Cardiac tamponade. Inflammation of the pericardium can cause fluids to ... including: Draining excess fluids. If you develop cardiac tamponade, your doctor will likely recommend a procedure (pericardiocentesis) ...

  13. [Mobius syndrome].

    Science.gov (United States)

    Vladuţiu, Cristina; Duma, Ionela

    2012-01-01

    Mobius syndrom, an anomaly in cranial nerve developement, presents with a remarkable clinical polymorphism. The rare occurence of this pathology and the questions raised by the diagnosis and treatment determined us to make this presentation.

  14. Down Syndrome

    Science.gov (United States)

    ... Diagnostic tests that can identify Down syndrome include: Amniocentesis. A sample of the amniotic fluid surrounding the ... somewhat higher risk of miscarriage than second trimester amniocentesis. Cordocentesis. In this test, also known as percutaneous ...

  15. Metabolic syndrome

    Science.gov (United States)

    ... obesity ). This body type may be described as "apple-shaped." Insulin resistance. Insulin is a hormone produced ... Syndrome Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the ...

  16. 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...

  17. SAPHO syndrome.

    Science.gov (United States)

    Carneiro, Sueli; Sampaio-Barros, Percival D

    2013-05-01

    SAPHO syndrome is a disorder characterized by Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis. As the osteoarticular and skin manifestations often do not occur simultaneously and there are no validated diagnostic criteria, the diagnosis can be difficult. Clinical and imaging investigation is necessary to establish the many differential diagnoses of SAPHO syndrome. The etiopathogenesis involves infectious (probably Propionibacterium acnes), immunologic, and genetic factors. Treatment is based on information gathered from case reports and small series, and is related to specific skin or articular symptoms.

  18. 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

  19. Dynamics from Multivariable Longitudinal Data

    Directory of Open Access Journals (Sweden)

    Maria Vivien Visaya

    2014-01-01

    Full Text Available We introduce a method of analysing longitudinal data in n≥1 variables and a population of K≥1 observations. Longitudinal data of each observation is exactly coded to an orbit in a two-dimensional state space Sn. At each time, information of each observation is coded to a point (x,y∈Sn, where x is the physical condition of the observation and y is an ordering of variables. Orbit of each observation in Sn is described by a map that dynamically rearranges order of variables at each time step, eventually placing the most stable, least frequently changing variable to the left and the most frequently changing variable to the right. By this operation, we are able to extract dynamics from data and visualise the orbit of each observation. In addition, clustering of data in the stable variables is revealed. All possible paths that any observation can take in Sn are given by a subshift of finite type (SFT. We discuss mathematical properties of the transition matrix associated to this SFT. Dynamics of the population is a nonautonomous multivalued map equivalent to a nonstationary SFT. We illustrate the method using a longitudinal data of a population of households from Agincourt, South Africa.

  20. Carpenter syndrome.

    Science.gov (United States)

    Hidestrand, Pip; Vasconez, Henry; Cottrill, Carol

    2009-01-01

    Carpenter syndrome is a rare autosomal recessive disorder that belongs to a group of rare craniosynostosis syndromes (Bull Soc Med Paris 1906;23:1310). Carpenter syndrome is the rarest, with only occasional patients seen. There are 3 common features in all of these syndromes: craniosynostosis (skull base abnormalities, with early fusion in different sutures), midface hypoplasia, and musculoskeletal abnormalities. Clinical features of Carpenter syndrome include peculiar facies, asymmetry of the skull, polydactyly, brachymesophalangy, mild soft tissue syndactyly, obesity, hypogenitalism, congenital heart disease, and mental retardation (J Pediatr 1966;69:1; Am J Roentgenol 1969;106). The brachycephaly is caused by early fusion in the coronal, sagittal, and lambdoidal sutures (Proc R Soc Med Sect Study Dis Child 1909). Most of the affected patients have a surgical procedure between 3 to 9 months of age to open the cranial vault to make space for the brain to grow (Plast Reconstr Surg 1978;62:335). We present a patient with Carpenter syndrome who is unusual in that she is an adult who has never had surgical intervention.

  1. Metabolic Syndrome (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Metabolic Syndrome KidsHealth > For Parents > Metabolic Syndrome A A A ... this is a condition called metabolic syndrome . About Metabolic Syndrome Not to be confused with metabolic disease (which ...

  2. Down Syndrome (For Kids)

    Science.gov (United States)

    ... CPR: A Real Lifesaver Kids Talk About: Coaches Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  3. Juvenile Polyposis Syndrome

    Science.gov (United States)

    ... Types of Cancer > Juvenile Polyposis Syndrome Request Permissions Juvenile Polyposis Syndrome Approved by the Cancer.Net Editorial Board , 12/2015 What is juvenile polyposis syndrome? Juvenile polyposis syndrome (JPS) is a ...

  4. Cardiac Syndrome X

    Science.gov (United States)

    ... Kawasaki Disease Long Q-T Syndrome Marfan Syndrome Metabolic Syndrome Mitral Valve Prolapse Myocardial Bridge Myocarditis Obstructive Sleep Apnea Pericarditis Peripheral Vascular Disease Rheumatic Fever Sick Sinus Syndrome Silent Ischemia Stroke Sudden ...

  5. 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 ...

  6. What is Metabolic Syndrome?

    Science.gov (United States)

    ... from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic syndrome is the name for a group of ... that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a ...

  7. Learning about WAGR Syndrome

    Science.gov (United States)

    ... used are: WAGR Complex Wilms' Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Wilms' Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Chromosome 11p deletion syndrome 11p deletion syndrome The cause ...

  8. Escobar syndrome mimicing congenital patellar syndrome

    National Research Council Canada - National Science Library

    Ezirmik, Naci; Yildiz, Kadri; Can, Cahit Emre

    2012-01-01

    ...) syndrome is a rare syndrome. Intrauterin growth reterdation, abnormal face, wide-spead pterygiums that resulted in joint contractures, ptosis, chryptoorchidism, patellar dysplasia and foot deformities are seen on this syndrome...

  9. 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,…

  10. 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,…

  11. 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 c

  12. 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

  13. Language Profile of a Child with Landau-Kleffner Syndrome

    Science.gov (United States)

    Shivashankar, N.; Priya, G. Vishnu; Raksha, H. R.; Ratnavalli, E. R.

    2010-01-01

    We report here a longitudinal study of a 3.8 year old female child diagnosed as having Landau Kleffner Syndrome (LKS). Speech-language analysis was carried out over a two-year period while the child was on medical treatment regime. The result of the language evaluation suggests that this child demonstrated exacerbation and remission in accordance…

  14. 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.

  15. 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.

  16. Refeeding syndrome

    Directory of Open Access Journals (Sweden)

    Tripathy Swagata

    2008-01-01

    Full Text Available We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death.

  17. 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.

  18. 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.

  19. Microcephaly syndromes.

    Science.gov (United States)

    Abuelo, Dianne

    2007-09-01

    The objective of this article is to review microcephaly from a genetics point of view, especially with regard to the process of identification of syndromes in which small head circumference occurs. Microcephaly can be due to either genetic or environmental causes. It can be the only positive finding or may be part of a syndrome of congenital anomalies. The genetic etiology can be caused by autosomal dominant, autosomal recessive, or X-linked genes or various types of chromosome anomalies. Some of the gene mutations have been identified recently. Syndromic microcephaly is associated with a large number of conditions. Some can be diagnosed, or at least suspected, based on their characteristic facial dysmorphism, and others can be searched for using databases of genetic disorders.

  20. Postconcussional Syndrome

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2013-02-01

    Full Text Available Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method for definite diagnosis, trials searching for both neuroimaging and specific serum biomarkers stil continue. The treatment of the syndrome is mainly of palliative nature. Information, education, reassurance and multifaceted rehabilitation programmes can be beneficial. There are promising trials reporting the effectiveness of cognitive behavioral therapy in the treatment of postconcussional syndrome. [Archives Medical Review Journal 2013; 22(1.000: 96-109

  1. 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 birth defect registries. Between January 1990 and December 2008, we identified 26 cases of Fraser syndrome in the monitored population of 12,886,464 births (minimal estimated prevalence of 0.20 per 100,000 or 1:495,633 births). Most cases (18/26; 69%) were registered in the western part of Europe, where...... was particularly high (42%). Most cases of Fraser syndrome (85%) are suspected prenatally, often due to the presence of the association of renal agenesis and cryptophthalmos. In the European population, a high proportion (82%) of pregnancies is terminated, thus reducing the live birth prevalence to a third...

  2. [Serotonin syndrome].

    Science.gov (United States)

    Lheureux, P; Penaloza, A; De Cottenier, V; Ullmann, U; Gris, M

    2002-10-01

    The serotonin syndrome is a hyperserotoninergic state resulting from an excess of intrasynaptic 5-hydroxytryptamine, induced by multiple psychotropic agents, but also non psychiatric drugs. It is a potentially dangerous and sometimes lethal condition. The clinical manifestations usually include cognitive, neuromuscular and autonomic features and are mediated by the action of serotonin on various subtypes of receptors. The main differential diagnosis is the neuroleptic malignant syndrome. Treatment is mainly supportive. No pharmacological agent has been definitely demonstrated really effective. However, reports of cases treated with the 5-HT2 blockers, including cyproheptadine or chlorpromazine have suggested that these agents could have some efficacy. Serotonin syndrome is a toxic condition which requires heightened clinical awareness among physicians in order to prevent, recognize, and treat the condition promptly.

  3. [Autoinflammatory syndromes].

    Science.gov (United States)

    Gomes, José Melo; Gomes, Sónia Melo; Conde, Marta

    2010-01-01

    Autoinflammatory syndromes (AIS) are a heterogeneous group of congenital diseases characterized by the presence of recurrent episodes of fever and local or generalized inflammation, in the absence of infectious agents, detectable auto-antibodies or antigen-specific autoreactive T-cells. These diseases have been much better understood during the past 15 years, mainly due to the marked advances of the Human Genoma Project and its implications in the identification and characterization of genetic mutations. In this paper we make a revision of the classification of AIS and focus our attention specially on the cryopyrin-associated periodic syndromes (CAPS), in particular the CINCA syndrome that shares many clinical characteristics with juvenile idiopathic arthritis.

  4. 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

  5. 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.

  6. A Case of Laugier-Hunziker Syndrome.

    Science.gov (United States)

    Kim, Eun Jung; Cho, Sang Hyun; Lee, Jeong Deuk

    2008-09-01

    Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of several fingernails. Histological examination taken from the mucosal lesion of tongue revealed increased pigmentation at the epithelial basal layer and a few melanophages in the submucosa. The lack of a family history coupled with the absence of any polyps on the endoscopic examinations of upper and lower bowel as well as the clinical features with late onset were all in favor of a diagnosis of Laugier-Hunziker syndrome. The significance of this disease is due to the need to differentiate this disorder from other pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

  7. 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

  8. [PFAPA syndrome].

    Science.gov (United States)

    André, Suzete Costa Anjos; Vales, Fernando; Cardoso, Eduardo; Santos, Margarida

    2009-01-01

    PFAPA syndrome is characterized by periodic fever, pharyngitis, cervical adenitis and aphthous stomatitis. The bouts of fever can last for days or even weeks. Between crises, patients remain asymptomatic for variable periods. It appears before the age of five and has limited duration (4-8 years). Its aetiopathogeny is unknown. Corticoids are the treatment of choice. Tonsillectomy has been proposed as a solution but remains controversial. We present the case of a 4-year-old girl with PFAPA syndrome who underwent tonsillectomy in January, 2008, and we review the literature.

  9. 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.

  10. Eisenmengers syndrom

    DEFF Research Database (Denmark)

    Jensen, Annette Schophuus; Iversen, Kasper; Vejlstrup, Niels G;

    2009-01-01

    Congenital heart disease with left-to-right shunt can induce proliferation, vasoconstriction and thrombosis in the pulmonary vascular bed. Eventually, the patient may develop Eisenmenger syndrome defined as pulmonary arterial hypertension caused by high pulmonary vascular resistance with right......-to-left shunt and cyanosis. Patients with Eisenmenger syndrome suffer a high risk of complications in connection with acute medical conditions, extra-cardiac surgery and pregnancy. This article describes the precautions that should be taken to reduce morbidity and mortality in these patients. Udgivelsesdato...

  11. 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.

  12. 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.

  13. Gorlin Syndrome

    Directory of Open Access Journals (Sweden)

    Siroos Risbaf

    2013-01-01

    Full Text Available Gorlin syndrome is a dominant autosomal familial disorder. The manifestations begin at an early age and a combination of phenotypic abnormalities such special facial appearance, jaw cysts and skeletal anomalies are seen in this disease. A 22-year-old woman referred to Zahedan Dental School complaining of pain on the left cheek. During the examination, several cutaneous lesions in the neck, pits in palm and sole and multiple jaw cysts were observed. According to the clinical symptoms, lesion biopsy and reports of Gorlin syndrome radiography were presented.

  14. [Wilkie's syndrome].

    Science.gov (United States)

    Bognár, Gábor; Ledniczky, György; Palik, Eva; Zubek, László; Sugár, István; Ondrejka, Pál

    2008-10-01

    Loss of retroperitoneal fatty tissue as a result of a variety of debilitating conditions and noxa is believed to be the etiologic factor of superior mesenteric artery syndrome. A case of a 35 years old female patient with severe malnutrition and weight loss is presented, who developed superior mesenteric artery syndrome. Various theories of etiology, clinical course and treatment options of this uncommon disease are discussed. In our case, conservative management was inefficient, while surgical treatment aiming to bypass the obstruction by an anastomosis between the jejunum and the proximal duodenum (duodenojejunostomy) was successful. An interdisciplinary teamwork provides the most beneficial diagnostic and therapeutic result in this often underestimated disease.

  15. Morbihan syndrome.

    Science.gov (United States)

    Veraldi, Stefano; Persico, Maria Chiara; Francia, Claudia

    2013-04-01

    We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face) in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks).

  16. Morbihan syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Veraldi

    2013-01-01

    Full Text Available We report a case of severe Morbihan syndrome (chronic erythematous edema of the upper portion of the face in a 60-year-old man. The syndrome was characterized clinically by erythematous edema involving the forehead, glabella, and both eyelids, because of which the patient was not able to open completely his eyes. Furthermore, erythema and telangiectasiae were visible on the nose and cheeks. Laboratory and instrumental examinations were within normal ranges or negative. Histopathological examination showed dermal edema, perivascular and periadnexal lympho-histiocytic infiltrate, and sebaceous gland hyperplasia. Oral isotretinoin was ineffective despite the relatively long duration of the therapy (26 weeks.

  17. 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.

  18. 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.

  19. 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. Althou

  20. Klinefelter Syndrome

    Directory of Open Access Journals (Sweden)

    Hande Peynirci

    2013-09-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome disorder in males. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of patients remain undetected. Typical clinical features of Klinefelter syndrome are various degrees of hypogonadal symptoms, atrophic testes and gynaecomastia. However, these typical clinical symptoms may not be present in all patients. Even if serum testosterone levels are not markedly low, elevated serum follicle-stimulating hormone is a considerable laboratory finding. Definitive diagnosis is made by karyotype analysis of peripheral blood lymphocytes. It must be kept in mind that this analysis may be normal in rare conditions. Early recognition of patients during puberty and handling them as soon as possible is important. Testosterone replacement therapy results in increased muscle mass, bone mineral density and libido. The patient’s mood and self-esteem improve significantly. In general, patients with Klinefelter syndrome are accepted as infertile, however, assisted reproductive techniques may provide fertilization. Turk Jem 2013; 17: 63-7

  1. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    /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...

  2. Dumping Syndrome

    Science.gov (United States)

    ... stomach move to your small intestine in an uncontrolled, abnormally fast manner. This is most often related to changes in your stomach associated with surgery. Dumping syndrome can occur after any stomach operation or removal of the esophagus (esophagectomy). Gastric bypass surgery for ...

  3. Brugada Syndrome

    Science.gov (United States)

    ... to look at your heart's electrical activity (electrophysiology study), you'll need to fast for eight to 12 hours before your test. Write down any symptoms you're experiencing, including any that may seem unrelated to Brugada syndrome. Write down key personal information, especially any family ...

  4. Bloom syndrome.

    Science.gov (United States)

    Arora, Harleen; Chacon, Anna H; Choudhary, Sonal; McLeod, Michael P; Meshkov, Lauren; Nouri, Keyvan; Izakovic, Jan

    2014-07-01

    Bloom Syndrome (BS, MIM #210900) is an autosomal recessive genetic disorder caused by a mutation in the BLM gene, which codes for the DNA repair enzyme RecQL3 helicase. Without proper DNA repair mechanisms, abnormal DNA exchange takes place between sister chromatids and results in genetic instability that may lead to cancer, especially lymphoma and acute myelogenous leukemia, lower and upper gastrointestinal tract neoplasias, cutaneous tumors, and neoplasias in the genitalia and urinary tract. BS patients are usually of Ashkenazi Jewish descent and exhibit narrow facial features, elongated limbs, and several dermatologic complications including photosensitivity, poikiloderma, and telangiectatic erythema. The most concerning manifestation of BS is multiple malignancies, which require frequent screenings and strict vigilance by the physician. Therefore, distinguishing between BS and other dermatologic syndromes of similar presentation such as Rothmund-Thomson Syndrome, Erythropoietic Protoporphyria, and Cockayne Syndrome is paramount to disease management and to prolonging life. BS can be diagnosed through a variety of DNA sequencing methods, and genetic testing is available for high-risk populations. This review consolidates several sources on BS sequelae and aims to suggest the importance of differentiating BS from other dermatologic conditions. This paper also elucidates the recently discovered BRAFT and FANCM protein complexes that link BS and Fanconi anemia.

  5. 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

  6. Chylomicronemia syndrome

    Science.gov (United States)

    ... the blood. The disorder is passed down through families. Causes Chylomicronemia syndrome can occur due to a rare genetic disorder in which a protein (enzyme) called lipoprotein lipase (LpL) is broken or missing. LpL is normally found in fat and muscle. ...

  7. 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

  8. 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.

  9. [Waardenburg's syndrome].

    Science.gov (United States)

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  10. Waardenburg's syndrome.

    Science.gov (United States)

    Yesudian, D P; Jayaraman, M; Janaki, V R; Yesudian, P

    1995-01-01

    Three children in a family of five presented with heterochromia iridis, lateral displacement of inner canthi and varying degrees of sensorineural deafness. All the 3 showed iris atrophy. The father of the children had only heterochromia iridis. A diagnosis of Waardenburg's syndrome Type I was made in the children with the father probably representing a forme fruste of the condition.

  11. Caplan syndrome

    Science.gov (United States)

    ... CT scan of the chest Joint x-rays Pulmonary function tests Rheumatoid factor test and other blood tests Treatment There is no specific treatment for Caplan syndrome, other than treating any lung and joint disease. ... MD, MHS, Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, ...

  12. Metabolic syndrome

    Institute of Scientific and Technical Information of China (English)

    Charles Shaeffer

    2004-01-01

    @@ The emergence of cardiac disease as the number one world-wide cause of death justifies efforts to identify individuals at higher risk for preventive therapy. The metabolic syndrome, originally described by Reaven, 1 has been associated with higher cardiovascular disease risk. 2 Type Ⅱ diabetes is also a frequent sequela. 3

  13. Sotos Syndrome

    Science.gov (United States)

    ... 663-4637) Sotos Syndrome Support Association P.O. Box 4626 Wheaton IL Wheaton, IL 60189 info@sotossyndrome.org http://www.sotossyndrome.org/ Tel: 888-246-7772 The Arc of the United States 1825 K Street, NW ...

  14. 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.…

  15. Reifenstein syndrome

    Science.gov (United States)

    Androgens are most important during early development in the womb. People with Reifenstein syndrome can have a normal lifespan and be totally healthy, but they may have difficulty conceiving a child. In the most severe cases, boys with outer female genitals ...

  16. 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.

  17. [SAPHO syndrome].

    Science.gov (United States)

    Heldmann, F; Kiltz, U; Baraliakos, X; Braun, J

    2014-10-01

    The SAPHO syndrome, an acronym for synovitis, acne, pustulosis, hyperostosis and osteitis, is a rare disease which affects bones, joints and the skin. The main osteoarticular features are hyperostosis and osteitis. Osteoarticular symptoms predominantly occur on the anterior chest wall but the spine and the peripheral skeleton can also be involved. The most important skin affections are palmoplantar pustulosis and severe acne. The etiology of this syndrome remains unclear but infectious, immunological and genetic factors are involved. The diagnostic features of SAPHO syndrome are clinical and radiological. The most important diagnostic procedure is Tc-99 m bone scintigraphy but conventional x-rays as well as computed tomography (CT) and magnetic resonance imaging (MRI) can also contribute to the final diagnosis. Bone histology and positron emission tomography CT (PET-CT) may help to differentiate SAPHO syndrome from malignancies and infectious osteomyelitis. Nonsteroidal anti-inflammatory drugs (NSAIDs) are the cornerstone of treatment. The results obtained using antibiotics and disease-modifying antirheumatic drugs (DMARDs), such as sulfasalazine and methotrexate are inconsistent. Bisphosphonates and anti-tumor necrosis factor (anti-TNF) drugs have shown promising results in small studies but further research is still necessary.

  18. 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.

  19. Cardiorenal Syndromes: Pathophysiology to Prevention

    Directory of Open Access Journals (Sweden)

    Peter A. McCullough

    2011-01-01

    Full Text Available There is a strong association between both acute and chronic dysfunction of the heart and kidneys with respect to morbidity and mortality. The complex interrelationships of longitudinal changes in both organ systems have been difficult to describe and fully understand due to a lack of categorization of the common clinical scenarios where these phenomena are encountered. Thus, cardiorenal syndromes (CRSs have been subdivided into five syndromes which represent clinical vignettes in which both the heart and the kidney are involved in bidirectional injury and dysfunction via a final common pathway of cell-to-cell death and accelerated apoptosis mediated by oxidative stress. Types 1 and 2 involve acute and chronic cardiovascular disease (CVD scenarios leading to acute kidney injury (AKI or accelerated chronic kidney disease (CKD. Types 3 and 4 describe AKI and CKD, respectively, leading primarily to heart failure, although it is possible that acute coronary syndromes, stroke, and arrhythmias could be CVD outcomes in these forms of CRS. Finally, CRSs type 5 describe a systemic insult to both heart and the kidneys, such as sepsis, where both organs are injured simultaneously in persons with previously normal heart and kidney function at baseline. Both blood and urine biomarkers, including the assessment of catalytic iron, a critical element to the generation of oxygen-free radicals and oxidative stress, are reviewed in this paper.

  20. Compartment syndromes

    Institute of Scientific and Technical Information of China (English)

    Aly Saber

    2014-01-01

    Body compartments bound by fascia and limited by bony backgrounds are found in the extremities, buttocks, abdomen and thoracic cavity; conditions that cause intracompartmental swelling and hypertension can lead to ischemia and limb loss.Although compartment syndromes are described in all body regions from head to toe, the etiology, diagnosis, treatment, and prevention are best characterized for three key body regions: the first is extremity, the second is abdominal, and the third is thoracic compartment syndromes.Thoracic compartment syndrome usually occurs as a result of pathological accumulation of air, fluid or blood in the mediastinum and has traditionally been described in trauma.As the intracranial contents are confined within a rigid bony cage, any increase in volume within thiscompartment as a result of brain oedema or an expanding traumatic intracranial haematoma, leads to a reciprocal decrease in the volume of cerebrospinal fluid and intracranial venous blood volume.Limb compartment syndromes may present either in acute or chronic clinical forms.Intra-abdominal pressure can be measured by direct or indirect methods.While the direct methods are quite accurate, theyare impractical and not feasible for routine practice.Indirect measurement is done through inferior vena cava, gastric, rectal and urinary bladder.Indirect measurement through urinary bladder is the simplest and is considered the method of choice for intra-abdominal pressure measurement.The management of patients with intra-abdominal hypertension is based on four important principles: the first is related to the specific procedures aiming at lowering intra-abdominal pressure and the consequences of intra-abdominal hypertension and abdominal compartment syndrome; the second is for general support and medical management of the critically ill patient; while the third is surgical decompression and the fourth is optimization after surgical decompression.

  1. Modeling Bivariate Longitudinal Hormone Profiles by Hierarchical State Space Models.

    Science.gov (United States)

    Liu, Ziyue; Cappola, Anne R; Crofford, Leslie J; Guo, Wensheng

    2014-01-01

    The hypothalamic-pituitary-adrenal (HPA) axis is crucial in coping with stress and maintaining homeostasis. Hormones produced by the HPA axis exhibit both complex univariate longitudinal profiles and complex relationships among different hormones. Consequently, modeling these multivariate longitudinal hormone profiles is a challenging task. In this paper, we propose a bivariate hierarchical state space model, in which each hormone profile is modeled by a hierarchical state space model, with both population-average and subject-specific components. The bivariate model is constructed by concatenating the univariate models based on the hypothesized relationship. Because of the flexible framework of state space form, the resultant models not only can handle complex individual profiles, but also can incorporate complex relationships between two hormones, including both concurrent and feedback relationship. Estimation and inference are based on marginal likelihood and posterior means and variances. Computationally efficient Kalman filtering and smoothing algorithms are used for implementation. Application of the proposed method to a study of chronic fatigue syndrome and fibromyalgia reveals that the relationships between adrenocorticotropic hormone and cortisol in the patient group are weaker than in healthy controls.

  2. 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

  3. Down Syndrome: Education

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  4. Down Syndrome: Eye Problems

    Science.gov (United States)

    ... En Español Read in Chinese What causes Down syndrome? Down syndrome is caused by a duplication of all ... Where can I find more information regarding Down Syndrome? National Down Syndrome Society VISIT SITE » Downs Syndrome Association VISIT ...

  5. Sexuality and Down Syndrome

    Science.gov (United States)

    ... 4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & Truths Preferred Language Guide Q& ... Shop NDSS Home » Resources » Wellness » Sexuality » Sexuality & Down Syndrome Sexuality & Down Syndrome Human sexuality encompasses an individual's self-esteem, ...

  6. Longitudinal research in child and adolescent psychiatry.

    Science.gov (United States)

    Verhulst, F C; Koot, H M

    1991-05-01

    An indispensable approach to the study of variations in individual development and of causal mechanisms and processes underlying the course of psychopathology is the longitudinal method. In this introductory review, the strengths and weaknesses of longitudinal research are discussed, and factors hampering progress in this field are outlined. The many advantages of this approach warrant continuing efforts to develop strategies that minimize its drawbacks.

  7. Colorado Longitudinal Twin Study of Reading Disability

    Science.gov (United States)

    Wadsworth, Sally J.; DeFries, John C.; Olson, Richard K.; Willcutt, Erik G.

    2007-01-01

    The primary objectives of the present study are to introduce the Colorado Longitudinal Twin Study of Reading Disability, the first longitudinal twin study in which subjects have been specifically selected for having a history of reading difficulties, and to present some initial assessments of the stability of reading performance and cognitive…

  8. 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…

  9. Longitudinal Single Bunch Instability Study on BEPCII

    CERN Document Server

    Dou, Wang; Zhe, Duan; Na, Wang; Li, Wang; Lin, Wang; Jie, Gao

    2013-01-01

    In order to study the single bunch longitudinal instability in BEPCII, experiments on the positron ring (BPR) for the bunch lengthening phenomenon were made. By analyzing the experimental data based on Gao's theory, the longitudinal loss factor for the bunch are obtained. Also, the total wake potential and the beam current threshold are estimated.

  10. [Longitudinal stent deformation during bifurcation lesion treatment].

    Science.gov (United States)

    Mami, Z; Monsegu, J

    2014-12-01

    Longitudinal stent deformation is defined as a compression of stent length after its implantation. It's a rare complication but dangerous seen with several stents. We reported a case of longitudinal stent deformation during bifurcation lesion treatment with a Promus Element(®) and we perform a short review of this complication.

  11. 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…

  12. Studies of longitudinal single bunch stability

    CERN Document Server

    Argyropoulos, T; Bhat, C; Baudrenghien, P; Esteban Muller, J; Hofle, W; Papotti, G; Shaposhnikova, E; Tuckmantel, J; Valuch, D; Venturini Delsolaro, W; Wehrle, U

    2011-01-01

    The goal of this MD was to study a single bunch longitudinal instability observed during the acceleration ramp in the LHC in 2010 for bunches with nominal intensity and small injected longitudinal emittance. During this MD there were two fills, the first without acceleration and the second with acceleration. In the first each ring was filled with 8 high intensity bunches with small longitudinal emittance. During the second 8 high intensity bunches were injected into each ring with longitudinal emittances varying from 0.9 eVs to 0.3 eVs. Two longitudinal instability modes (dipole and quadrupole) were observed in different parts of the cycle with both beams. Measurements of phase and bunch length oscillations, as well as data extracted from bunch profile acquisitions during the cycle, are presented in this Note together with an analysis of the growth rate dependence on bunch emittances and intensity.

  13. LSTGEE: longitudinal analysis of neuroimaging data

    Science.gov (United States)

    Li, Yimei; Zhu, Hongtu; Chen, Yasheng; An, Hongyu; Gilmore, John; Lin, Weili; Shen, Dinggang

    2009-02-01

    Longitudinal imaging studies are essential to understanding the neural development of neuropsychiatric disorders, substance use disorders, and normal brain. Using appropriate image processing and statistical tools to analyze the imaging, behavioral, and clinical data is critical for optimally exploring and interpreting the findings from those imaging studies. However, the existing imaging processing and statistical methods for analyzing imaging longitudinal measures are primarily developed for cross-sectional neuroimaging studies. The simple use of these cross-sectional tools to longitudinal imaging studies will significantly decrease the statistical power of longitudinal studies in detecting subtle changes of imaging measures and the causal role of time-dependent covariate in disease process. The main objective of this paper is to develop longitudinal statistics toolbox, called LSTGEE, for the analysis of neuroimaging data from longitudinal studies. We develop generalized estimating equations for jointly modeling imaging measures with behavioral and clinical variables from longitudinal studies. We develop a test procedure based on a score test statistic and a resampling method to test linear hypotheses of unknown parameters, such as associations between brain structure and function and covariates of interest, such as IQ, age, gene, diagnostic groups, and severity of disease. We demonstrate the application of our statistical methods to the detection of the changes of the fractional anisotropy across time in a longitudinal neonate study. Particularly, our results demonstrate that the use of longitudinal statistics can dramatically increase the statistical power in detecting the changes of neuroimaging measures. The proposed approach can be applied to longitudinal data with multiple outcomes and accommodate incomplete and unbalanced data, i.e., subjects with different number of measurements.

  14. Otodental syndrome

    Directory of Open Access Journals (Sweden)

    Bloch-Zupan Agnès

    2006-03-01

    Full Text Available Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves. The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

  15. 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...... necrophorum. We found a total of 137 cases of LS, of which 47 were infected with F. necrophorum and others with Staphylococcus and Streptococcus. Complications of this rare but severe disease included osteomyelitis, meningitis, and acute respiratory distress syndrome. Mortality was extremely high in the pre......-antibiotic era but has diminished with the advent of antibiotics. This review showed a mortality rate of only 2% of which none of the cases involved fusobacteria. Duration of treatment varied; a 4-6-week course of carbapenem or piperacillin/tazobactam in combination with metronidazole was optimum. Other...

  16. 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+.

  17. Antiphospholipid syndrome.

    Science.gov (United States)

    Cervera, Ricard

    2017-03-01

    The antiphospholipid syndrome (APS) is defined by the development of venous and/or arterial thromboses, often multiple, and pregnancy morbidity (mainly, recurrent fetal losses), in the presence of antiphospholipid antibodies (aPL). Some estimates indicate that the incidence of the APS is around 5 new cases per 100,000 persons per year and the prevalence around 40-50 cases per 100,000 persons. The aPL are positive in approximately 13% of patients with stroke, 11% with myocardial infarction, 9.5% of patients with deep vein thrombosis and 6% of patients with pregnancy morbidity. Currently, there is consensus in treating APS patients with thrombosis with long-term oral anticoagulation and to prevent obstetric manifestations with the use of aspirin and heparin. This review summarizes the main knowledge on the clinical and therapeutic aspects of this syndrome. © 2017 Elsevier Ltd. All rights reserved.

  18. Parinaud's syndrome.

    Science.gov (United States)

    Moffie, D; Ongerboer de Visser, B W; Stefanko, S Z

    1983-02-01

    Five cases of a tumour in the quadrigeminal area have been described, 4 of which could be verified by autopsy. In 2 cases with a metastasis in the tegmentum of the mesencephalon, a Parinaud syndrome was present. In 2 other cases, however, with extensive destruction of the quadrigeminal plate and of the posterior commissure this syndrome was not present. In the 5th case, with a big vascular tumour of the pineal area, disturbances of eye movements and pupils were also lacking. From these observations we may conclude that (1) destruction of the quadrigeminal plate has no influence upon vertical eye movements. (2) destruction of the posterior commissure, in combination with the quadrigeminal plate, is not always followed by disturbances of vertical eye movements. In man it is still not clear which structures are responsible for the performance of vertical eye movements.

  19. 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.

  20. 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.

  1. Fluency Disorders in Genetic Syndromes

    Science.gov (United States)

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

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

  2. 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.

  3. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Sharon Turban; Paul J Thuluvath; Mohamed G Atta

    2007-01-01

    Hepatorenal syndrome (HRS) is a "functional" and reversible form of renal failure that occurs in patients with advanced chronic liver disease. The distinctive hallmark feature of HRS is the intense renal vasoconstriction caused by interactions between systemic and portal hemodynamics. This results in activation of vasoconstrictors and suppression of vasodilators in the renal circulation. Epidemiology, pathophysiology, as well as current and emerging therapies of HRS are discussed in this review.

  4. Postconcussional Syndrome

    OpenAIRE

    Necla Keskin; Lut Tamam

    2013-01-01

    Postconcussional syndrome is characterized by somatic, cognitive and psychiatric (emotional, behavioral) symptoms that occurs after mild traumatic brain injury. It has been known that these symptoms recover fully within 3-6 months almost in 90% of patients. Although its etiology is still controversial, biological, psychological and social factors may account for the development and continuation of the symptoms. Diagnosis is based on the subjective complaints. To find out an objective method f...

  5. Fraser syndrome.

    Directory of Open Access Journals (Sweden)

    Chattopadhyay A

    1993-10-01

    Full Text Available Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

  6. [Fibromyalgia syndrome].

    Science.gov (United States)

    Naranjo Hernández, A; Rodríguez Lozano, C; Ojeda Bruno, S

    1992-02-01

    The Fibromialgia Syndrome (FS) is a common clinical entity which may produce symtoms and signs related to multiple fields of Medicine. Typical clinical characteristics of FS include extensive pain, presence of sensitive points during exploration, morning stiffness, asthenia and non-refresing sleep. Frequently, associated rheumatologic diseases are observed, as rheumatoid arthritis, osteoarthrosis and vertebral disorders. In FS, complementary tests are usually normal. The most widely accepted hypothesis suggests that this is a disorder affecting modulation of pain sensitivity.

  7. Gerstmann's syndrome.

    OpenAIRE

    Sukumar, S.; Ferguson, G C

    1996-01-01

    Although Gerstmann's syndrome has been well documented since it was characterised in the latter half of last century, there has not been much literature on it in the last few years. We present a classical case in a patient who was admitted into hospital for an unrelated problem. We conclude that clinical examination still has a valuable role in neurology, despite the availability of excellent imaging techniques.

  8. Antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Pavlović Dragan M.

    2010-01-01

    Full Text Available Antiphospholipid syndrome (APS is an autoimmune disease with recurrent thromboses and pregnancy complications (90% are female patients that can be primary and secondary (with concomitant autoimmune disease. Antiphospholipid antibodies are prothrombotic but also act directly with brain tissue. One clinical and one laboratory criterion is necessary for the diagnosis of APS. Positive serological tests have to be confirmed after at least 12 weeks. Clinical picture consists of thromboses in many organs and spontaneous miscarriages, sometimes thrombocytopaenia and haemolytic anaemia, but neurological cases are the most frequent: headaches, stroke, encephalopathy, seizures, visual disturbances, Sneddon syndrome, dementia, vertigo, chorea, balism, transitory global amnesia, psychosis, transversal myelopathy and Guillain-Barre syndrome. About 50% of strokes below 50 years of age are caused by APS. The first line of therapy in stroke is anticoagulation: intravenous heparin or low-weight heparins. In chronic treatment, oral anticoagulation and antiplatelet therapy are used, warfarin and aspirin, mostly for life. In resistant cases, corticosteroids, intravenous immunoglobulins and plasmapheresis are necessary. Prognosis is good in most patients but some are treatment-resistant with recurrent thrombotic events and eventually death.

  9. Kartagener syndrome

    Directory of Open Access Journals (Sweden)

    Nedaa Skeik

    2011-01-01

    Full Text Available Nedaa Skeik1–3, Fadi I Jabr41Mayo Clinic, Rochester, MN, USA; 2Dartmouth Medical School, Hannover, NH, USA; 3New York Medical College, New York, NY, USA; 4Horizon Medical Center, Hospital Medicine, Dickson, TN, USAAbstract: Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.Keywords: chronic obstructive pulmonary disease, bronchiectasis, immotile cilia syndrome, situs inversus

  10. Crush syndrome

    Directory of Open Access Journals (Sweden)

    Emily Lovallo

    2012-09-01

    Full Text Available The first detailed cases of crush syndrome were described in 1941 in London after victims trapped beneath bombed buildings presented with swollen limbs, hypovolemic shock, dark urine, renal failure, and ultimately perished. The majority of the data and studies on this topic still draw from large databases of earthquake victims. However, in Africa, a continent with little seismic activity, the majority of crush syndrome cases are instead victims of severe beatings rather than earthquake casualties, and clinical suspicion by emergency personnel must be high in this patient group presenting with oliguria or pigmenturia. Damaged skeletal muscle fibres and cell membranes lead to an inflammatory cascade resulting in fluid sequestration in the injured extremity, hypotension, hyperkalemia and hypocalcemia and their complications, and renal injury from multiple sources. Elevations in the serum creatinine, creatine kinase (CK, and potassium levels are frequent findings in these patients, and can help guide critical steps in management. Fluid resuscitation should begin prior to extrication of trapped victims or as early as possible, as this basic intervention has been shown to in large part prevent progression of renal injury to requiring haemodialysis. Alkalinization of the urine and use of mannitol for forced diuresis are recommended therapies under specific circumstances and are supported by studies done in animal models, but have not been shown to change clinical outcomes in human crush victims. In the past 70 years the crush syndrome and its management have been studied more thoroughly, however clinical practice guidelines continue to evolve.

  11. Asperger Syndrome (For Parents)

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Asperger Syndrome KidsHealth > For Parents > Asperger Syndrome Print A ... the medical community still use the term. About Asperger Syndrome The disorder is named after Hans Asperger, ...

  12. Genetic obesity syndromes.

    Science.gov (United States)

    Goldstone, Anthony P; Beales, Philip L

    2008-01-01

    There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding the genetic causes and functional perturbations of such syndromes we stand to gain tremendous insight into obesogenic pathways. In this review we focus particularly on Bardet-Biedl syndrome, whose molecular genetics and cell biology has been elucidated recently, and Prader-Willi syndrome, the commonest obesity syndrome due to loss of imprinted genes on 15q11-13. We also discuss highlights of other genetic obesity syndromes including Alstrom syndrome, Cohen syndrome, Albright's hereditary osteodystrophy (pseudohypoparathyroidism), Carpenter syndrome, MOMO syndrome, Rubinstein-Taybi syndrome, cases with deletions of 6q16, 1p36, 2q37 and 9q34, maternal uniparental disomy of chromosome 14, fragile X syndrome and Börjeson-Forssman-Lehman syndrome.

  13. Anesthesia & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » Anesthesia & Down Syndrome Anesthesia & Down Syndrome Complications of anesthesia (sedation during surgery) occur in ... histories are complicated. Why Would an Individual With Down Syndrome Need A nesthesia? 40-60% of infants born ...

  14. Dental Issues & Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » Dental Issues & Down Syndrome Dental Issues & Down Syndrome Dental care is important for everybody, but people ... is Different About the Teeth of People With Down Syndrome? Delayed Eruption The teeth of people with Down ...

  15. Heart and Down Syndrome

    Science.gov (United States)

    ... Associated Conditions » The Heart & Down Syndrome The Heart & Down Syndrome Abnormalities of the cardiovascular system are common in ... the Most Common Heart Defects in Children With Down Syndrome? The most common defects are Atrioventricular Septal Defect ( ...

  16. ADHD & Down Syndrome

    Science.gov (United States)

    ... Health Care » Associated Conditions » ADHD & Down Syndrome ADHD & Down Syndrome Attention deficit hyperactivity disorder, or ADHD, is a ... age. How Common Is ADD in Children With Down Syndrome? The frequency of ADHD in children with Down ...

  17. What Causes Down Syndrome?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications What causes Down syndrome? Skip sharing on social media links Share this: ... Down Syndrome Registry​ . Chromosomal Changes That Can Cause Down Syndrome Research shows that three types of chromosomal changes ...

  18. 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 between days ...

  19. Behind and beyond the pediatric metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Brambilla Paolo

    2009-12-01

    Full Text Available Abstract The growing use of the Metabolic Syndrome in pediatric age need a critical approach, on the basis of recent concerns on definition and usefulness for individual management in clinical practice. We reviewed these aspects from a pediatric point of view, providing a set of questions about what the Metabolic Syndrome means in a clinical setting. The new proposed pediatric definition by IDF was discussed, by outlying how it does not fully consider the peculiarities of children and adolescents. The comparison between two cases of obese children was used in order to show how this diagnosis could be confusing for a correct management. We stressed the need for health-related limits for each component of the Metabolic Syndrome instead of percentile-derived cut-points, as well as the opportunity to extend the estimation to other family or individual risk factors by means of a multiple-items screening form. In conclusion, Metabolic Syndrome use in pediatric age suffers at present from important limitations (i.e., adult derived definition, possibility to rule-in but not to rule-out the individual metabolic risk, instability of MetS during adolescence, poor usefulness of the diagnosis for specific treatment. Consequently, a prudent use of Metabolic Syndrome for children and adolescents seems to be the best and honest position for paediatricians, waiting for long term, longitudinal follow-up studies that could clarify the entire question.

  20. Inherited ichthyosis: Syndromic forms.

    Science.gov (United States)

    Yoneda, Kozo

    2016-03-01

    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

  1. Carpal Tunnel Syndrome

    Science.gov (United States)

    ... Pharyngitis, Adenitis Syndrome (Juvenile) Polymyalgia Rheumatica Psoriatic Arthritis Raynaud's Phenomenon Reactive Arthritis Rheumatoid Arthritis Scleroderma Sjogren's Syndrome Spinal Stenosis Spondyloarthritis Systemic Lupus Erythematosus (Juvenile) Takayasu's ...

  2. Longitudinal dynamics and tomography in the Tevatron

    Energy Technology Data Exchange (ETDEWEB)

    Stogin, J. [Princeton Univ., Princeton, NJ (United States); Sen, T. [Fermi National Accelerator Laboratory (FNAL), Batavia, IL (United States); Moore, R. S. [Fermi National Accelerator Laboratory (FNAL), Batavia, IL (United States)

    2012-01-10

    Motivated by the desire to understand the longitudinal effects of beam-beam forces, we study the longitudinal dynamics of protons and anti-protons at injection and top energy in the Tevatron. Multi-turn data of the longitudinal profiles are captured to reveal information about frequencies of oscillation, and changes in the bunch distributions. Tomographic reconstruction is used to create phase space maps which are subsequently used to find the momentum distributions. Changes in these distributions for both proton and anti-proton beams are also followed through the operational cycle. We report too on the details of interesting dynamics and some unexpected findings.

  3. Longitudinal Variations in Jupiter's Winds

    Science.gov (United States)

    Simon-Miller, Amy A.; Gierasch, P. J.; Tierney, G.

    2010-01-01

    Long-term studies of Jupiter's zonal wind field revealed temporal variations on the order of 20 to 40 m/s at many latitudes, greater than the typical data uncertainties of 1 to 10 m/s. No definitive periodicities were evident, however, though some latitudinally-confined signals did appear at periods relevant to the Quasi- Quadrennial Oscillation (Simon-Miller & Gierasch, Icarus, in press). As the QQO appears, from vertical temperature profiles, to propagate downward, it is unclear why a signal is not more obvious, unless other processes dominate over possibly weaker forcing from the QQO. An additional complication is that zonal wind profiles represent an average over some particular set of longitudes for an image pair and most data sets do not offer global wind coverage. Lien avoiding known features, such as the large anticyclonic vortices especially prevalent in the south, there can be distinct variations in longitude. We present results on the full wind field from Voyager and Cassini data, showing apparent longitudinal variations of up to 60 m/s or more. These are particularly obvious near disruptions such as the South Equatorial Disturbance, even when the feature itself is not clearly visible. These two dates represent very different states of the planet for comparison: Voyagers 1 & 2 flew by Jupiter shortly after a global upheaval, while many regions were in a disturbed state, while the Cassini view is typical of a more quiescent period present during much of the 1990s and early 2000s.

  4. Longitudinal oscillation of launch vehicles

    Science.gov (United States)

    Glaser, R. F.

    1973-01-01

    During powered flight a vehicle may develop longitudinal self-excited oscillations, so-called oscillations, of its structure. The energy supplying the vibration is tapped from the thrust by the activity of the system itself; that is, oscillation of the structure causes oscillation of the propellant system, especially of the pumps. In this way an oscillating thrust can be created that, by a feedback loop, may sustain the structural oscillation under certain circumstances. Two special features of the system proved to be essential for creation of instability. One is the effect of the inherent time interval that the thrust oscillation is lagging behind the structural oscillation. The other is the decreased of system mass caused by the exhausting of gas. The latter feature may cause an initially stable system to become unstable. To examine the stability of the system, a single mass-spring model, which is the result of a one-term Galerkin approach to the equation of motion, has been considered. The Nyquist stability criterion leads to a stability graph that shows the stability conditions in terms of the system parameter and also demonstrates the significance of time lag, feedback magnitude, and loss of mass. An important conclusion can be drawn from the analysis: large relative displacements of the pump-engine masses favor instability. This is also confirmed by flight measurements.

  5. Increased Risk of Myofascial Pain Syndrome Among Patients with Insomnia.

    Science.gov (United States)

    Lin, Wei-Chen; Shen, Cheng-Che; Tsai, Shih-Jen; Yang, Albert C

    2017-08-01

    The aim of this study is to evaluate the risk of developing myofascial pain syndrome among patients diagnosed with insomnia. We conducted a population-based longitudinal study of a matched cohort with 7,895 participants (1,579 patients with insomnia and 6,316 controls) who were selected from the Taiwan National Health Insurance Research Database. The patients were observed for a maximum of 10 years to determine the incidence of newly diagnosed myofascial pain syndrome. A Cox regression analysis was performed to identify the risk factors associated with myofascial pain syndrome in patients with insomnia. During the 10-year follow-up period, 182 insomnia patients (14.9 per 1,000 person-years) and 379 controls (7.5 per 1,000 person-years) were diagnosed with myofascial pain syndrome. The incidence risk ratio of myofascial pain syndrome between the insomnia and control patients was 2.00 (95% confidence interval [CI] = 1.67-2.38, P  myofascial pain syndrome (95% CI = 1.62-2.31, P  myofascial pain syndrome in patients with insomnia. Patients with insomnia had a higher risk of developing myofascial pain syndrome than controls. This study adds to the understanding of the complex relationship between sleep disturbance and pain.

  6. Raynaud's syndrome and carpal tunnel syndrome.

    OpenAIRE

    Waller, D G; Dathan, J R

    1985-01-01

    We report three cases of Raynaud's syndrome with digital ischaemic ulceration, in association with carpal tunnel syndrome. In all cases, the aetiology of the Raynaud's syndrome was probably unrelated to the nerve compression. However, symptoms were worse on the side of the median nerve lesion in two patients and worse on the side with the most severe nerve dysfunction in the third; symptoms were relieved by carpal tunnel decompression in two patients. We suggest that carpal tunnel syndrome ma...

  7. Hepatorenal syndrome

    Institute of Scientific and Technical Information of China (English)

    Jan Lata

    2012-01-01

    Hepatorenal syndrome (HRS) is defined as a functional renal failure in patients with liver disease with portal hypertension and it constitutes the climax of systemic circulatory changes associated with portal hypertension.This term refers to a precisely specified syndrome featuring in particular morphologically intact kidneys,where regulatory mechanisms have minimised glomerular filtration and maximised tubular resorption and urine concentration,which ultimately results in uraemia.The syndrome occurs almost exclusively in patients with ascites.Type 1 HRS develops as a consequence of a severe reduction of effective circulating volume due to both an extreme splanchnic arterial vasodilatation and a reduction of cardiac output.Type 2 HRS is characterised by a stable or slowly progressive renal failure so that its main clinical consequence is not acute renal failure,but refractory ascites,and its impact on prognosis is less negative.Liver transplantation is the most appropriate therapeutic method,nevertheless,only a few patients can receive it.The most suitable "bridge treatments" or treatment for patients ineligible for a liver transplant include terlipressin plus albumin.Terlipressin is at an initial dose of 0.5-1 mg every 4 h by intravenous bolus to 3 mg every 4 h in cases when there is no response.Renal function recovery can be achieved in less than 50% of patients and a considerable decrease in renal function may reoccur even in patients who have been responding to therapy over the short term.Transjugular intrahepatic portosystemic shunt plays only a marginal role in the treatment of HRS.

  8. 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

  9. 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.

  10. Eagle Syndrome

    Directory of Open Access Journals (Sweden)

    Beytholahi JM

    1998-09-01

    Full Text Available Eagle's syndrome is characterized by an elongated styloid process and (or calcification of"nstylohyoid ligament besides clinical symptoms. The symptoms are those related to pain when"nswallowing or rotating the neck, headacke, earache, dizziness, intermittent glossitis, sensation of"nforeign body in pharynx and transient syncope. The case which is presented can be considered a very"nrare form of the disease in which complete calcification of the ligament and it's thickening has"noccured. Also there is little relationship between the severity of calcification and severity of symptoms."nA careful and thorough evaluation of each panoramic radiography is emphasized.

  11. HELLP syndrome

    Directory of Open Access Journals (Sweden)

    Dilek Acar

    2014-08-01

    Suggested treatment modality consists, stabilization of blood pressure and magnesium sulfate infusion. Then evaluation of fetal status and planning delivery method and time if maternal status remains unstable. If prognosis seems favorable without urgent delivery and fetus can benefit from it, a course of betamethasone can be given to fetuses between 24 and 34 weeks of gestational age. The only and definite treatment of HELLP syndrome is delivering the baby. Suggested benefits of steroid therapy and other experimental treatments are still to be proven effective by large randomized controlled trials. [Archives Medical Review Journal 2014; 23(4.000: 735-760

  12. Jacobsen syndrome.

    Science.gov (United States)

    Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

    2009-03-07

    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 approximately 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 very severe

  13. Chilaiditi syndrome.

    Science.gov (United States)

    Walsh, S D; Cruikshank, J G

    1977-02-01

    The features of the Chilaiditi Syndrome are described, together with the historial background, and a brief review of the literature on the condition is given. The prevalence in our geriatric population was found to be 1% and the 13 cases seen over 22 months are reported briefly. The prevalence increases with age and may be related to the consumption of drugs by the elderly; although in the majority it is asymptomatic, it may, particularly when associated with gastrointestinal symptoms, lead to unnecessary laparotomy. In the geriatric patient, interposition of the bowel should be considered in the differential diagnosis of air under the right hemidiaphragm.

  14. Myofascial syndrome

    Directory of Open Access Journals (Sweden)

    Giancarlo Carli

    2008-12-01

    Full Text Available Myofascial pain syndrome is common cause one of musculoskeletal pain and it is characterized by trigger points (TP, limited range of motion in joints and local twitch response (LTR during mechanical stimulation of the TP. Trigger point is a hyperirritable spot in skeletal muscle that is associated with a hypersensitive palpable nodule in a taut band. The spot is tender when pressed and can give rise to characteristic referred pain, motor dysfunction and autonomic phenomena. Palpation is reliable diagnostic criterion for locating TP in patients. Treatment is based on anesthetise TP, stretch and spray, local pression and physical activity.

  15. 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

  16. 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.

  17. Refeeding syndrome.

    Science.gov (United States)

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

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

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

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

  19. Longitudinal research strategies: advantages, problems, and prospects.

    Science.gov (United States)

    Farrington, D P

    1991-05-01

    The single-cohort, long-term longitudinal survey has many advantages in comparison with a cross-sectional survey in advancing knowledge about offending and other types of psychopathology, notably in providing information about onset and desistance, about continuity and prediction, and about within-individual change. However, the longitudinal survey also has significant problems, notably in confounding aging and period effects, delayed results, achieving continuity in funding and research direction, and cumulative attrition. This paper suggests the use of a multiple-cohort sequential strategy (the "accelerated longitudinal design") as a way of achieving the benefits of the longitudinal method while minimizing the problems in advancing knowledge about the natural history, causes, prevention, and treatment of psychopathological disorders.

  20. Longitudinally extensive optic neuritis in pediatric patients.

    Science.gov (United States)

    Graves, Jennifer; Kraus, Verena; Soares, Bruno P; Hess, Christopher P; Waubant, Emmanuelle

    2015-01-01

    Extensive optic nerve demyelinating lesions on magnetic resonance imaging (MRI) in adults could indicate a diagnosis other than multiple sclerosis with worse prognosis such as neuromyelitis optica. We report the frequency of longitudinally extensive lesions in children with first events of optic neuritis. Subjects had brain or orbit MRI within 3 months of onset and were evaluated at the University of California, San Francisco, Pediatric Multiple Sclerosis Center. Lesion length, determined by T2 hyperintensity or contrast enhancement, was blindly graded as absent, focal or longitudinally extensive (at least 2 contiguous segments of optic nerve). Of 25 subjects, 9 (36%) had longitudinally extensive optic neuritis. Extensive lesions were not associated with non-multiple sclerosis versus multiple sclerosis diagnosis (P = 1.00). No association between age and lesion extent was observed (P = .26). Prospective studies are needed to determine if longitudinally extensive optic neuritis can predict visual outcome.

  1. Marital assortment and phenotypic convergence: longitudinal evidence.

    Science.gov (United States)

    Caspi, A; Herbener, E S

    1993-01-01

    This study provides a direct test of whether the observed similarity of spouses is due to initial assortment rather than to convergence of phenotypes. With data from three well-known longitudinal studies, phenotypic convergence is examined using both variable- and person-centered analyses. The longitudinal evidence does not support the hypothesis that couples increasingly resemble each other with time. Spouse correlations most likely reflect initial assortment at marriage and not the convergence of phenotypes.

  2. Common predictor effects for multivariate longitudinal data

    OpenAIRE

    Jia, Juan; Weiss, Robert E.

    2009-01-01

    Multivariate outcomes measured longitudinally over time are common in medicine, public health, psychology and sociology. The typical (saturated) longitudinal multivariate regression model has a separate set of regression coefficients for each outcome. However, multivariate outcomes are often quite similar and many outcomes can be expected to respond similarly to changes in covariate values. Given a set of outcomes likely to share common covariate effects, we propose the Clustered Outcome COmm...

  3. 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.

  4. 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.

  5. 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.

  6. 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 (

  7. Sheehan's syndrome.

    Science.gov (United States)

    Kilicli, Fatih; Dokmetas, Hatice Sebila; Acibucu, Fettah

    2013-04-01

    Sheehan's syndrome (SS) is characterized by various degrees of hypopituitarism, and develops as a result of ischemic pituitary necrosis due to severe postpartum hemorrhage. Increased pituitary volume, small sella size, disseminated intravascular coagulation and autoimmunity are the proposed factors in the pathogenesis of SS. Hormonal insufficiencies, ranging from single pituitary hormone insufficiency to total hypopituitarism, are observed in patients. The first most important issue in the diagnosis is being aware of the syndrome. Lack of lactation and failure of menstrual resumption after delivery that complicated with severe hemorrhage are the most important clues in diagnosing SS. The most frequent endocrine disorders are the deficiencies of growth hormone and prolactin. In patients with typical obstetric history, prolactin response to TRH seems to be the most sensitive screening test in diagnosing SS. Other than typical pituitary deficiency, symptoms such as anemia, pancytopenia, osteoporosis, impairment in cognitive functions and impairment in the quality of life are also present in these patients. Treatment of SS is based on the appropriate replacement of deficient hormones. Growth hormone replacement has been found to have positive effects; however, risk to benefit ratio, side effects and cost of the treatment should be taken into account.

  8. Klinefelter syndrome.

    Science.gov (United States)

    Smyth, C M; Bremner, W J

    1998-06-22

    Klinefelter syndrome is the most common sex chromosome disorder. Affected males carry an additional X chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and infertility, whereas others, because of the wide variability in clinical expression, lack many of these features. Treatment consists of testosterone replacement therapy to correct the androgen deficiency and to provide patients with appropriate virilization. This therapy also has positive effects on mood and self-esteem and has been shown to protect against osteoporosis, although it will not reverse infertility. Although the diagnosis of Klinefelter syndrome is now made definitively using chromosomal karyotyping, revealing in most instances a 47,XXY genotype, the diagnosis also can be made using a careful history and results of a physical examination, with the hallmark being small, firm testes. As it affects 1 in 500 male patients and presents with a variety of clinical features, primary care physicians should be familiar with this condition.

  9. 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.

  10. 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.

  11. Down Syndrome (For Parents)

    Science.gov (United States)

    ... Habits for TV, Video Games, and the Internet Down Syndrome KidsHealth > For Parents > Down Syndrome Print A A ... Help en español El síndrome de Down About Down Syndrome Down syndrome (DS), also called Trisomy 21, is ...

  12. Facts about Down Syndrome

    Science.gov (United States)

    ... label> Information For… Media Policy Makers Facts about Down Syndrome Language: English (US) Español (Spanish) Recommend on ... children with Down syndrome. View charts » What is Down Syndrome? Down syndrome is a condition in which a ...

  13. 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

  14. Longitudinal Study of the Relationship among Craniocervical Morphology, Clinical Progression, and Syringomyelia in a Cohort of Cavalier King Charles Spaniels

    OpenAIRE

    Cerda‐Gonzalez, S.; Olby, N.J.; Griffith, E.H.

    2016-01-01

    Background Craniocervical junction (CCJ) anomalies and secondary syringomyelia are commonly diagnosed in Cavalier King Charles spaniel (CKCS). Familiarity with the natural history of these abnormalities is vital to understanding the disease syndrome. Objective To evaluate magnetic resonance imaging (MRI) predictors of worsening clinical signs, syringomyelia, and morphology in CKCS longitudinally. Animals Fifty‐four client‐owned CKCS, 5–13 years old; 50% currently symptomatic. Methods Longitud...

  15. Joint Engagement and the Emergence of Language in Children with Autism and Down Syndrome

    OpenAIRE

    Adamson, Lauren B.; Bakeman, Roger; Deckner, Deborah F.; Romski, MaryAnn

    2008-01-01

    Systematic longitudinal observations were made as typically-developing toddlers and young children with autism and with Down syndrome interacted with their caregivers in order to document how joint engagement developed over a year-long period and how variations in joint engagement experiences predicted language outcome. Children with autism displayed a persistent deficit in coordinated joint attention; children with Down syndrome were significantly less able to infuse symbols into joint engag...

  16. 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

    2012-12-01

    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.

  17. Growth charts for children with Ellis–van Creveld syndrome

    OpenAIRE

    Verbeek, Sabine; Eilers, Paul; Lawrence, Karen; Hennekam, Raoul; Versteegh, Florens

    2010-01-01

    textabstractEllis-van Creveld (EvC) syndrome is a congenital malformation syndrome with marked growth retardation. In this study, specific growth charts for EvC patients were derived to allow better follow-up of growth and earlier detection of growth patterns unusual for EvC. With the use of 235 observations of 101 EvC patients (49 males, 52 females), growth charts for males and females from 0 to 20 years of age were derived. Longitudinal and cross-sectional data were collected from an earlie...

  18. Leopard syndrome

    Directory of Open Access Journals (Sweden)

    Dallapiccola Bruno

    2008-05-01

    Full Text Available Abstract LEOPARD syndrome (LS, OMIM 151100 is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS, chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should

  19. 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.

  20. Trichorhinophalangeal syndrome

    Directory of Open Access Journals (Sweden)

    Mario Vaccaro

    2017-07-01

    Full Text Available Trichorhinophalangeal syndrome (TRPS is the collective name of three rare congenital conditions characterised by craniofacial and skeletal abnormalities. The three known types of TRPS have different modalities of genetic transmission: namely, TRPS I and III are inherited as an autosomal dominant disease, while the cases of TRPS II are essentially sporadic.The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in some cases with the non-classical clinical presentation. Alopecia and structural abnormalities of the nose and the hands should be considered as clinical hallmarks, whereas endocrine disorders, renal alterations, ureteral reflux, heart pathology and bone dysplasia have been documented, in the setting of a multisystem involvement.

  1. Rapid decline in lung function is temporally associated with greater metabolically active adiposity in a longitudinal study of healthy adults.

    Science.gov (United States)

    Moualla, Maan; Qualls, Clifford; Arynchyn, Alexander; Thyagarajan, Bharat; Kalhan, Ravi; Smith, Lewis J; Carr, John J; Jacobs, David R; Sood, Akshay

    2017-07-20

    Adiposity is associated with low lung function, but the longitudinal relationship between lung function and adiposity is inadequately studied. To examine the bidirectional longitudinal associations between rapid decline in lung function and adiposity phenotypes in healthy adults. This secondary analysis used a 25-year longitudinal dataset from the Coronary Artery Risk Development in Young Adults (CARDIA) study that enrolled 5115 participants. In the first analysis, metabolic syndrome at or before CARDIA year (Y) 10 (Y10) was the predictor, and subsequent rapid decline in forced vital capacity (FVC) or forced expiratory volume in 1 s (FEV1) between Y10 and Y20 was the outcome. In the second analysis, rapid decline was the predictor, and incident metabolic syndrome at Y20 and/or Y25 was the outcome. In the third analysis, rapid decline was the predictor, and subsequent CT-assessed regional fat depots at Y25 were the outcome. Metabolic syndrome at or before Y10 is temporally associated with rapid decline in FVC between Y10 and Y20 (adjusted p=0.04), but this association was explained by body mass index (BMI) at Y10. Rapid decline in FVC or FEV1 is temporally associated with greater incident metabolic syndrome at Y20 and/or Y25 (adjusted OR 2.10 (1.69, 2.61); prapid decline in lung function are at risk for developing metabolic syndrome and for disproportionate accumulation of intrathoracic visceral fat. Metabolic abnormalities may be an early extrapulmonary manifestation of lung impairment that may be preventable by improving lung health. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  2. Hypereosinophilic syndromes

    Directory of Open Access Journals (Sweden)

    Giuseppe Civardi

    2013-04-01

    Full Text Available Background: The last few years have seen a complete change in the etiopathogenetic features, classification and therapeutic approach of the hypereosinophilic syndrome (HES, a multiorgan targeted blood disease. The discovery of a genetic mutation and the occurrence of a new fusion gene, named FIP1L1-PDGFRA (FIP gene, in some patients allowed the identification of a new myeloproliferative disorder, M-HES: thereafter, the pivotal therapeutic role of the tyrosine kinase inhibitors, particularly, imatinib mesylate, was clearly detected. In the same period a new pathogenetic mechanism has been detected: some authors described the presence of a CD3-CD4 +Tcell clone correlating with the overproduction of IL5, a potent eosinophilic cell line stimulating cytokine. As a consequence an international consensus committee proposed a new classification for these syndromes, in accordance with these new pathogenetic features. The disease is characterized by an extensive tissue and organ damage due to an eosinophilic cell infiltration and leading to the release of toxic cytokines and subsequent organ dysfunction. The heart, lungs, gastrointestinal apparatus, skin and central nervous system are affected. Moreover the released cytokines can induce a thrombophilic status and thromboembolic events can occur throughout the body. Aim of the study: We describe the diagnostic procedures that are necessary in order to obtain a correct diagnosis and classification of the disease and to evaluate the presence of an organ and tissue damage. In particular, bone marrow biopsy and cytogenetic examination of blood and marrow are necessary for detecting M-HES cases that are positive for the FIP gene. In these patients, imatinib mesylate has a leading role for obtaining complete remission of the disease in a high percentage of cases. We also examine the therapeutic options for the other forms of the disease: prednisone, interferon, hydroxiurea are effective therapeutic tools in

  3. Joint multiple imputation for longitudinal outcomes and clinical events that truncate longitudinal follow-up.

    Science.gov (United States)

    Hu, Bo; Li, Liang; Greene, Tom

    2016-07-30

    Longitudinal cohort studies often collect both repeated measurements of longitudinal outcomes and times to clinical events whose occurrence precludes further longitudinal measurements. Although joint modeling of the clinical events and the longitudinal data can be used to provide valid statistical inference for target estimands in certain contexts, the application of joint models in medical literature is currently rather restricted because of the complexity of the joint models and the intensive computation involved. We propose a multiple imputation approach to jointly impute missing data of both the longitudinal and clinical event outcomes. With complete imputed datasets, analysts are then able to use simple and transparent statistical methods and standard statistical software to perform various analyses without dealing with the complications of missing data and joint modeling. We show that the proposed multiple imputation approach is flexible and easy to implement in practice. Numerical results are also provided to demonstrate its performance. Copyright © 2015 John Wiley & Sons, Ltd.

  4. 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.

  5. Longitudinal fluctuations and decorrelation of anisotropic flow

    Science.gov (United States)

    Pang, Long-Gang; Petersen, Hannah; Qin, Guang-You; Roy, Victor; Wang, Xin-Nian

    2016-12-01

    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.

  6. Longitudinal surface structures (flowstripes on Antarctic glaciers

    Directory of Open Access Journals (Sweden)

    N. F. Glasser

    2011-11-01

    Full Text Available Longitudinal surface structures (''flowstripes'' are common on many glaciers but their origin and significance are poorly understood. In this paper we present observations of the development of these longitudinal structures from four different Antarctic glacier systems (the Lambert Glacier/Amery Ice Shelf area, outlet glaciers in the Ross Sea sector, ice-shelf tributary glaciers on the Antarctic Peninsula, and the onset zone of a tributary to the Recovery Glacier Ice Stream in the Filchner Ice Shelf area. Mapping from optical satellite images demonstrates that longitudinal surface structures develop in two main situations: (1 as relatively wide flow stripes within glacier flow units and (2 as relatively narrow flow stripes where there is convergent flow around nunataks or at glacier confluence zones. Our observations indicate that the confluence features are narrower, sharper, and more clearly defined features. They are characterised by linear troughs or depressions on the ice surface and are much more common than the former type. Longitudinal surface structures within glacier flow units have previously been explained as the surface expression of localised bed perturbations but a universal explanation for those forming at glacier confluences is lacking. Here we propose that these features are formed at zones of ice acceleration and extensional flow at glacier confluences. We provide a schematic model for the development of longitudinal surface structures based on extensional flow that can explain their ridge and trough morphology as well as their down-ice persistence.

  7. Longitudinal stability in multiharmonic standing wave linacs

    Science.gov (United States)

    Carver, L. R.; Jones, R. M.; Jiang, Y.; Hirshfield, J. L.

    2016-09-01

    Accelerating cavities that excite multiple modes at integer harmonics of the fundamental frequency have the potential to be used to suppress the onset of rf breakdown and reduce the pulsed surface heating at high accelerating gradients. Understanding the effect of an additional harmonic cavity mode on the longitudinal beam dynamics is important to their development and use. A Hamiltonian that describes the longitudinal motion of a particle as it traverses a chain of multiharmonic cavities has been derived and is applied to the case of a second harmonic cavity. The Hamiltonian is based upon formalisms found in literature for the fundamental harmonic and is extended to include different longitudinal field distributions and harmonic frequencies. The study initially explores the longitudinal motion for moderate accelerating gradients with high-β protons, as this will allow fundamental properties of the stable region (acceptance and shape of the rf bucket) to be determined. High accelerating gradients are also investigated but the focus will be on phase stability throughout. This work concludes by considering the longitudinal dynamics of a modified European Spallation Source accelerator, comprised of multiharmonic cavities that has specifications broadly consistent with the accelerator.

  8. Multivariate analysis of longitudinal rates of change.

    Science.gov (United States)

    Bryan, Matthew; Heagerty, Patrick J

    2016-12-10

    Longitudinal data allow direct comparison of the change in patient outcomes associated with treatment or exposure. Frequently, several longitudinal measures are collected that either reflect a common underlying health status, or characterize processes that are influenced in a similar way by covariates such as exposure or demographic characteristics. Statistical methods that can combine multivariate response variables into common measures of covariate effects have been proposed in the literature. Current methods for characterizing the relationship between covariates and the rate of change in multivariate outcomes are limited to select models. For example, 'accelerated time' methods have been developed which assume that covariates rescale time in longitudinal models for disease progression. In this manuscript, we detail an alternative multivariate model formulation that directly structures longitudinal rates of change and that permits a common covariate effect across multiple outcomes. We detail maximum likelihood estimation for a multivariate longitudinal mixed model. We show via asymptotic calculations the potential gain in power that may be achieved with a common analysis of multiple outcomes. We apply the proposed methods to the analysis of a trivariate outcome for infant growth and compare rates of change for HIV infected and uninfected infants. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  9. ADHD and genetic syndromes.

    Science.gov (United States)

    Lo-Castro, Adriana; D'Agati, Elisa; Curatolo, Paolo

    2011-06-01

    A high rate of Attention Deficit/Hyperactivity Disorder (ADHD)-like characteristics has been reported in a wide variety of disorders including syndromes with known genetic causes. In this article, we review the genetic and the neurobiological links between ADHD symptoms and some genetic syndromes such as: Fragile X Syndrome, Neurofibromatosis 1, DiGeorge Syndrome, Tuberous Sclerosis Complex, Turner Syndrome, Williams Syndrome and Klinefelter Syndrome. Although each syndrome may arise from different genetic abnormalities with multiple molecular functions, the effects of these abnormalities may give rise to common effects downstream in the biological pathways or neural circuits, resulting in the presentation of ADHD symptoms. Early diagnosis of ADHD allows for earlier treatment, and has the potential for a better outcome in children with genetic syndromes.

  10. First Trimester Down Syndrome Screen

    Science.gov (United States)

    ... disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18) . The first trimester screen is one ... chromosome material that results in Down syndrome or Edwards syndrome , the levels of PAPP-A tend to be ...

  11. Genetics Home Reference: Alport syndrome

    Science.gov (United States)

    ... Alport Syndrome Recessive Type MalaCards: alport syndrome Merck Manual Consumer Version My46 Trait Profile Orphanet: Alport syndrome Patient Support and Advocacy Resources (3 links) Alport Syndrome Foundation National Organization for Rare Disorders (NORD) The Kidney Foundation of ...

  12. Genetics Home Reference: Werner syndrome

    Science.gov (United States)

    ... for This Condition Adult premature aging syndrome Adult Progeria Werner's Syndrome Werners Syndrome WS Related Information How ... BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat ...

  13. Prenatal Tests for Down Syndrome

    Science.gov (United States)

    ... PRENATAL TESTS FOR DOWN SYNDROME What Is Down Syndrome? Down syndrome is a common birth defect that includes mental retardation and— often— heart problems. Children with Down syndrome have round faces and almond-shaped eyes that ...

  14. Genetics Home Reference: Donohue syndrome

    Science.gov (United States)

    ... resistance syndromes. These disorders, which also include Rabson-Mendenhall syndrome and type A insulin resistance syndrome , are ... of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective. Medicine (Baltimore). 2004 ...

  15. 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.

  16. Cushing syndrome in pediatrics.

    Science.gov (United States)

    Stratakis, Constantine A

    2012-12-01

    Cushing syndrome is characterized by truncal obesity, growth deceleration, skin changes, muscle weakness, and hypertension. Cushing syndrome in childhood usually results from the exogenous administration of glucocorticoids. This article presents the causes and discusses the treatment of endogenous Cushing syndrome. It also discusses the clinical and molecular genetics of inherited forms of this syndrome. Cushing syndrome needs to be diagnosed and treated properly when first recognized; improper treatment can turn this otherwise completely curable disorder into a chronic ailment. Barriers to optimal care of a pediatric patient with Cushing syndrome are discussed. Published by Elsevier Inc.

  17. 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

  18. Rare case of nephrotic syndrome: Schimke syndrome

    Directory of Open Access Journals (Sweden)

    Anna Kelly Krislane de Vasconcelos Pedrosa

    Full Text Available Abstract Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosclerosis and progressive renal failure. The objective of this study was to report a case of Schimke syndrome, diagnostic investigation and management of the case.

  19. LHC MD 232: Longitudinal Impedance Evaluation

    CERN Document Server

    Esteban Muller, Juan; Baudrenghien, Philippe; Shaposhnikova, Elena; CERN. Geneva. ATS Department

    2017-01-01

    The aim of the MDstudies presented here was to evaluate the imaginary part of the longitudinal impedance of the LHC by means of synchrotron frequency shift measurements. Single bunches with similar longitudinal emittance but different intensities were studied at flat top. Based on the beam parameters, a maximum shift of about 0.2 Hz was expected between the different bunches. A detailed analysis still needs to be carried out to determine the measured synchrotron frequency shift. The measurements took place between 8:00 p.m. on 26th and 2:00 a.m. on 27th July 2016

  20. Longitudinal coupling effect in microfiber Bragg gratings

    Science.gov (United States)

    Zhao, Ping; Zhang, Jihua; Wang, Guanghui; Jiang, Meng; Ping Shum, Perry; Zhang, Xinliang

    2012-10-01

    We theoretically present longitudinal coupling effect (LCE) in air-cladding microfiber Bragg gratings (MFBGs). Distinct from conventional weakly-guiding optical fibers, large longitudinal electric field (Ez) exists in wavelength-scale microfibers. Due to LCE, MFBG reflectivity can be reduced by more than 30% within the band-gap and the full width at half maximum (FWHM) is obviously narrowed. This theoretical analytical work is instructive to precisely design and fabricate MFBGs that are promising in the areas of optical sensing and nanophotonics.

  1. Reflectometry using longitudinal, shear and Rayleigh waves.

    Science.gov (United States)

    Chen, W; Wu, J

    2000-09-01

    A new technique of reflectometry using longitudinal, shear and Rayleigh waves is presented. Reflection coefficient as a function of angle incidence of an ultrasound beam with a finite beamwidth was measured for water-aluminum, water-brass, and water-glass interfaces. The measured values have matched very favorably with the results of numerical calculations based on the angular spectrum of waves method. It has been shown that the speeds of longitudinal, shear and Rayleigh waves of a solid can be determined very accurately by measuring a spectacularly reflected signal versus angle of incidence.

  2. 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…

  3. Moving beyond the Minimum: Socially Just Pedagogies and Asperger's Syndrome in UK Higher Education

    Science.gov (United States)

    Madriaga, Manuel; Goodley, Dan

    2010-01-01

    A year-long longitudinal study was conducted to gain insight into the lives of eight students who had a label of Asperger's syndrome during their transitions into higher education in the UK. Reflecting on life history data, the findings suggest that universities might actually be maintaining and (re)producing barriers that perpetuate the exclusion…

  4. Joint Engagement and the Emergence of Language in Children with Autism and Down Syndrome

    Science.gov (United States)

    Adamson, Lauren B.; Bakeman, Roger; Deckner, Deborah F.; Romski, MaryAnn

    2009-01-01

    Systematic longitudinal observations were made as typically developing toddlers and young children with autism and with Down syndrome interacted with their caregivers in order to document how joint engagement developed over a year-long period and how variations in joint engagement experiences predicted language outcome. Children with autism…

  5. The impact of apolipoprotein E on dementia in persons with Down's syndrome.

    NARCIS (Netherlands)

    Coppus, A.M.; Evenhuis, H.M.; Verberne, G.J.; Visser, F.E.; Arias-Vasquez, A.; Sayed-Tabatabaei, F.A.; Vergeer-Drop, J.; Eikelenboom, P.; Gool, W.A. van; Duijn, C.M. van

    2008-01-01

    Apolipoprotein E (APOE) is consistently associated with dementia in the general population. Findings on the role of this gene in persons with Down's syndrome (DS) are inconclusive. We studied the effects of APOE on mortality and dementia in a longitudinal prospective study of a large population-base

  6. Moving beyond the Minimum: Socially Just Pedagogies and Asperger's Syndrome in UK Higher Education

    Science.gov (United States)

    Madriaga, Manuel; Goodley, Dan

    2010-01-01

    A year-long longitudinal study was conducted to gain insight into the lives of eight students who had a label of Asperger's syndrome during their transitions into higher education in the UK. Reflecting on life history data, the findings suggest that universities might actually be maintaining and (re)producing barriers that perpetuate the exclusion…

  7. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome.

    NARCIS (Netherlands)

    Kemperman, M.H.; Stinckens, C.I.C.; Kumar, S.; Huygen, P.L.M.; Joosten, F.B.M.; Cremers, C.W.R.J.

    2001-01-01

    OBJECTIVE: To study the results of petrosal bone imaging and audiometric long-term follow-up of two patients with branchio-oto-renal (BOR) syndrome and relate them to the clinical features, including caloric responses. STUDY DESIGN: Longitudinal case study. SETTING: Tertiary referral center. PATIENT

  8. Peculiarities in the Gestural Repertoire: An Early Marker for Rett Syndrome?

    Science.gov (United States)

    Marschik, Peter B.; Sigafoos, Jeff; Kaufmann, Walter E.; Wolin, Thomas; Talisa, Victor B.; Bartl-Pokorny, Katrin D.; Budimirovic, Dejan B.; Vollmann, Ralf; Einspieler, Christa

    2012-01-01

    We studied the gestures used by children with classic Rett syndrome (RTT) to provide evidence as to how this essential aspect of communicative functions develops. Seven participants with RTT were longitudinally observed between 9 and 18 months of life. The gestures used by these participants were transcribed and coded from a retrospective analysis…

  9. 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…

  10. Angelman syndrome.

    Science.gov (United States)

    Kyllerman, Mårten

    2013-01-01

    Angelman syndrome combines severe mental retardation, epilepsy, ataxia, speech impairment, and unique behavior with happy demeanor, laughing, short attention span, hyperactivity, and sleep disturbance. Occurrence has been calculated at 1:20000 to 1:12000 constituting about 6% of all children with severe mental retardation and epilepsy. The physical "prototype" includes microcephaly with flat neck, fair skin and hair, wide-spaced teeth, and open mouth with tongue protrusion. Epilepsy is characterized by atypical absences, erratic myoclonus, and occasional tonic-clonic seizures. EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges. Sodium valproate, benzodiazepines, and priacetam are frequently used and effective. Development is generally slow, the majority attaining independent walking in the first 2.5-6 years. Vocabulary is limited to a few single words with superior speech and object apprehension. The condition is due to a lack of expression of the UBE3A gene on chromosome 15q. Maternal deletions of 15q11-13 produce the most pronounced phenotype (65-70% of probands), uniparental disomy and imprinting center mutations (10%), and UBE3A point mutations (11%) produce milder phenotypes. Copyright © 2013 Elsevier B.V. All rights reserved.

  11. Angelman Syndrome.

    Science.gov (United States)

    Margolis, Seth S; Sell, Gabrielle L; Zbinden, Mark A; Bird, Lynne M

    2015-07-01

    In this review we summarize the clinical and genetic aspects of Angelman syndrome (AS), its molecular and cellular underpinnings, and current treatment strategies. AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. AS is caused by disruption of the maternally expressed and paternally imprinted UBE3A, which encodes an E3 ubiquitin ligase. Four mechanisms that render the maternally inherited UBE3A nonfunctional are recognized, the most common of which is deletion of the maternal chromosomal region 15q11-q13. Remarkably, duplication of the same chromosomal region is one of the few characterized persistent genetic abnormalities associated with autistic spectrum disorder, occurring in >1-2% of all cases of autism spectrum disorder. While the overall morphology of the brain and connectivity of neural projections appear largely normal in AS mouse models, major functional defects are detected at the level of context-dependent learning, as well as impaired maturation of hippocampal and neocortical circuits. While these findings demonstrate a crucial role for ubiquitin protein ligase E3A in synaptic development, the mechanisms by which deficiency of ubiquitin protein ligase E3A leads to AS pathophysiology in humans remain poorly understood. However, recent efforts have shown promise in restoring functions disrupted in AS mice, renewing hope that an effective treatment strategy can be found.

  12. 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.

  13. Premenstrual Syndrome (PMS) FAQ

    Science.gov (United States)

    ... syndrome irritable bowel syndrome thyroid disease Depression and anxiety disorders are the most common conditions that overlap with PMS. About one half of women seeking treatment for PMS have one of these ...

  14. Brain Fag Syndrome

    African Journals Online (AJOL)

    syndrome. BFS is a tetrad of somatic complaints; cognitive impairments; sleep related complaints; and other somatic impairments. ..... BFS is a history told over time and through space. Divisions ..... Social origins of the brain fag syndrome.

  15. Milk-alkali syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000332.htm Milk-alkali syndrome To use the sharing features on this page, please enable JavaScript. Milk-alkali syndrome is a condition in which there ...

  16. Kleine-Levin Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  17. Locked-In Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  18. Holmes-Adie Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  19. Central Cord Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  20. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... Craniosynostosis Information Page Creutzfeldt-Jakob Disease Information Page Cushing's Syndrome Information Page Dandy-Walker Syndrome Information Page Deep Brain Stimulation for Parkinson's Disease Information Page Dementia Information ...

  1. What Is Marfan Syndrome?

    Science.gov (United States)

    ... 11:11 Size: 10.5 MB November 2014 What Is Marfan Syndrome? Fast Facts: An Easy-to- ... Being Done on Marfan Syndrome? For More Information What Is Connective Tissue? Connective tissue supports many parts ...

  2. Post-Concussion Syndrome

    Science.gov (United States)

    Post-concussion syndrome Overview By Mayo Clinic Staff Post-concussion syndrome is a complex disorder in which various symptoms — ... sometimes months after the injury that caused the concussion. Concussion is a mild traumatic brain injury that ...

  3. 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 ...

  4. Trisomy 13 (Patau Syndrome)

    National Research Council Canada - National Science Library

    Masoud Poureisa

    2009-01-01

    "nDescription and Definition: Synonym: patau syndrome with an incidence of 1 in 5000 births, this syndrome is characterized by multiple congenital abnormalities involving virtually every organ system...

  5. Restless Legs Syndrome Foundation

    Science.gov (United States)

    ... Into Relieved Are you experiencing symptoms linked to restless legs syndrome (RLS)? Find tools and support to help get ... I couldn’t sleep. Fortunately, I found the Restless Legs Syndrome Foundation and learned what type of doctor to ...

  6. Dubin-Johnson syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down ...

  7. The obstetric antiphospholipid syndrome

    NARCIS (Netherlands)

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

    2008-01-01

    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 consist

  8. Learning about Klinefelter Syndrome

    Science.gov (United States)

    ... for the genetic terms used on this page Learning About Klinefelter Syndrome What is Klinefelter syndrome? What ... they are referred to a doctor to evaluate learning disabilities. The diagnosis may also be considered in ...

  9. Learning about Velocardiofacial Syndrome

    Science.gov (United States)

    ... Definitions for genetic terms used on this page. Learning About Velocardiofacial Syndrome What is velocardiofacial syndrome (VCFS)? ... are formed or work; a characteristic facial appearance; learning problems; and speech and feeding problems. The name ...

  10. Diabetic hyperglycemic hyperosmolar syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000304.htm Diabetic hyperglycemic hyperosmolar syndrome To use the sharing features on this page, please enable JavaScript. Diabetic hyperglycemic hyperosmolar syndrome (HHS) is a complication of ...

  11. Ectopic Cushing syndrome

    Science.gov (United States)

    ... Cushing syndrome in which a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone (ACTH). Causes Cushing syndrome is a disorder that occurs when your body has a higher ...

  12. Organic brain syndrome

    Science.gov (United States)

    ... state Intoxication from drug or alcohol use Wernicke-Korsakoff syndrome (a long-term effect of excessive alcohol consumption ... Substance use Transient ischemic attack Vascular dementia Wernicke-Korsakoff syndrome Review Date 2/27/2016 Updated by: Amit ...

  13. Gorlin‑Goltz Syndrome

    African Journals Online (AJOL)

    Annals of Medical and Health Sciences Research | Mar-Apr 2014 | Vol 4 | Issue 2 | ... Oral Medicine and Radiology, College of Dental Sciences and Reasearch, Bopal, Ahmeadabad, .... or GGS, Oro-facial-digital syndrome, Noonan syndrome,.

  14. Tics and Tourette Syndrome

    Science.gov (United States)

    ... Children who have Tourette syndrome may also have learning disabilities or obsessive-compulsive disorder (thoughts or behaviors that ... my child who has tourette syndrome, involuntary movement, learning disabilities, learning disability, movement disorders, obsessive thoughts, obsessive-compulsive ...

  15. Sheehan's Syndrome (Postpartum Hypopituitarism)

    Science.gov (United States)

    Sheehan's syndrome Overview By Mayo Clinic Staff Sheehan's syndrome is a condition that affects women who lose a life-threatening amount of blood in childbirth or who have severe low blood pressure ...

  16. Barth Syndrome (BTHS)

    Science.gov (United States)

    ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ... may be prescribed to control heart problems. The dietary supplement carnitine has aided some children with Barth syndrome but ...

  17. Recurrent Goodpasture's syndrome.

    OpenAIRE

    Burke, B. R.; Bear, R. A.

    1983-01-01

    Goodpasture's syndrome was diagnosed in a 17-year-old boy with glomerulonephritis and hemoptysis. He was successfully treated with cyclophosphamide, prednisone and courses of plasmapheresis. The syndrome recurred 3 1/2 years later and was again successfully treated.

  18. What Is Down Syndrome?

    Science.gov (United States)

    ... Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% ... are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between ...

  19. Genetics Home Reference: otopalatodigital syndrome type 1

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related ...

  20. Genetics Home Reference: otopalatodigital syndrome type 2

    Science.gov (United States)

    ... Management Genetic Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and ... syndrome faciopalatoosseous syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related ...

  1. Ogilvies syndrom efter sectio

    DEFF Research Database (Denmark)

    Schjoldager, B T; Sørensen, Jette Led; Svaerke, T

    2001-01-01

    Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time.......Ogilvie's syndrome, acute pseudo-obstruction of the colon, can lead to perforation of the caecum and death. The syndrome is not well known and diagnosis can be difficult to make in time....

  2. Hyperventilation and exhaustion syndrome

    OpenAIRE

    Ristiniemi, Heli; Perski, Aleksander; Lyskov, Eugene; Emtner, Margareta

    2014-01-01

    Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD-10 classification - F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed ...

  3. Longitudinal photosynthetic gradient in crust lichens' thalli.

    Science.gov (United States)

    Wu, Li; Zhang, Gaoke; Lan, Shubin; Zhang, Delu; Hu, Chunxiang

    2014-05-01

    In order to evaluate the self-shading protection for inner photobionts, the photosynthetic activities of three crust lichens were detected using Microscope-Imaging-PAM. The false color images showed that longitudinal photosynthetic gradient was found in both the green algal lichen Placidium sp. and the cyanolichen Peltula sp. In longitudinal direction, all the four chlorophyll fluorescence parameters Fv/Fm, Yield, qP, and rETR gradually decreased with depth in the thalli of both of these two lichens. In Placidium sp., qN values decreased with depth, whereas an opposite trend was found in Peltula sp. However, no such photosynthetic heterogeneity was found in the thalli of Collema sp. in longitudinal direction. Microscope observation showed that photobiont cells are compactly arranged in Placidium sp. and Peltula sp. while loosely distributed in Collema sp. It was considered that the longitudinal photosynthetic heterogeneity was ascribed to the result of gradual decrease of incidence caused by the compact arrangement of photobiont cells in the thalli. The results indicate a good protection from the self-shading for the inner photobionts against high radiation in crust lichens.

  4. [Posterior longitudinal ligament ossification: case report].

    Science.gov (United States)

    Tella, Oswaldo Inácio de; Herculano, Marco Antonio; Paiva Neto, Manoel Antonio; Faedo Neto, Atílio; Crosera, João Francisco

    2006-03-01

    Posterior longitudinal ligament ossification of cervical spine is a rare condition among caucasians. A 42 years old japanese patient with progressive walking difficulty was diagnosed with this pathology by CT scan and MRI and treated surgically by an anterior approach with arthrodesis. Pathophysiology, racial prevalence, clinical picture, radiological characteristics and surgical approaches options are revised.

  5. The longitudinal static stability of tailless aircraft

    OpenAIRE

    de Castro, Helena V.

    2001-01-01

    This paper describes the development of a simple theory of the longitudinal controls fixed static stability of tailless aeroplanes. The classical theory, as developed for the conventional aircraft, is modified to accommodate the particular features of the tailless aeroplanes. The theory was then applied to a particular blended-wing-body tailless civil transport aircraft, BWB-98. Cranfield University

  6. Biomechanics of Distance Running: A Longitudinal Study

    Science.gov (United States)

    Nelson, Richard C.; Gregor, Robert J.

    1976-01-01

    Training for distance running over a long period produces meaningful changes in the running mechanics of experienced runners, as revealed in this longitudinal study of the biomechanical components of stride length, stride rate, stride time, and support and nonsupport time. (MB)

  7. An electromagnetic shashlik calorimeter with longitudinal segmentation

    CERN Document Server

    Benvenuti, Alberto C; Camporesi, T; Checchia, P; Fenyuk, A; Hedberg, V; Lishin, V A; Margoni, M; Mazzucato, M; Obraztsov, V F; Paganoni, M; Polyakov, V A; Simonetto, F; Terranova, F; Vlasov, E

    1999-01-01

    A novel technique for longitudinal segmentation of shashlik calorimeters has been tested in the CERN West Area beam facility. A 25 tower e.m. calorimeter has been built with vacuum photodiodes inserted in the first 8 radiation lengths to sample the initial development of the shower. Results concerning energy resolution, impact point reconstruction and $e/\\pi$ separation are reported.

  8. Longitudinal bulk a coustic mass sensor

    DEFF Research Database (Denmark)

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

    2009-01-01

    Design, fabrication and characterization, in terms of mass sensitivity, is presented for a polycrystalline silicon longitudinal bulk acoustic cantilever. The device is operated in air at 51 MHz, resulting in a mass sensitivity of 100 HZ/fg (1 fg = 10{su−15 g). The initial characterization...

  9. Investigating Ceiling Effects in Longitudinal Data Analysis

    Science.gov (United States)

    Wang, Lijuan; Zhang, Zhiyong; McArdle, John J.; Salthouse, Timothy A.

    2008-01-01

    Score limitation at the top of a scale is commonly termed "ceiling effect." Ceiling effects can lead to serious artifactual parameter estimates in most data analysis. This study examines the consequences of ceiling effects in longitudinal data analysis and investigates several methods of dealing with ceiling effects through Monte Carlo simulations…

  10. Longitudinal shear resistance of composite slabs

    NARCIS (Netherlands)

    Schuurman, R.G.; Stark, J.W.B.

    1996-01-01

    Verification methods for longitudinal shear. currently in use, are empirical. This applies for both the m-k method as the Partial Shear Connection method. Parameters and mechanisms determining the behaviour of the shear connection in composite slabs are not directly considered in these methods. A

  11. Emotion Regulation and Childhood Aggression: Longitudinal Associations

    Science.gov (United States)

    Roll, Judith; Koglin, Ute; Petermann, Franz

    2012-01-01

    Accumulating evidence suggests that emotion dysregulation is associated with psychopathology. This paper provides a review of recent longitudinal studies that investigate the relationship between emotion regulation and aggressive behavior in childhood age. While there is substantial evidence for assuming a close relation of emotion regulation and…

  12. Dual imputation model for incomplete longitudinal data

    NARCIS (Netherlands)

    Jolani, S.; Frank, L.E.; Buuren, S. van

    2014-01-01

    Missing values are a practical issue in the analysis of longitudinal data. Multiple imputation (MI) is a well-known likelihood-based method that has optimal properties in terms of efficiency and consistency if the imputation model is correctly specified. Doubly robust (DR) weighing-based methods pro

  13. 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…

  14. Burnout development among dentists: a longitudinal study

    NARCIS (Netherlands)

    H. te Brake; N. Smits; J.M. Wicherts; R.C. Gorter; J. Hoogstraten

    2008-01-01

    Knowledge on the development of burnout among dentists is important for purposes of prevention and intervention. Using a two-wave longitudinal design, this study examined the chronological sequence of the three dimensions of the Maslach Burnout Inventory: emotional exhaustion; depersonalization; and

  15. Anisocoria and Horner's Syndrome

    Science.gov (United States)

    ... Asked Questions Español Condiciones Chinese Conditions Anisocoria and Horner's Syndrome En Español Read in Chinese What is ... the affected eye. What are the signs of Horner’s syndrome? In Horner’s syndrome, the pupil in the ...

  16. Cushing's Syndrome in Children

    Science.gov (United States)

    Cushing’s Syndrome in Children by Meg Keil, MS, CRNP How is Cushing’s syndrome (CS) in children different than in adults? · CS ... conditions may cause what is known as pseudo-Cushing’s syndrome. Although this is more common in adults, it ...

  17. Williams Syndrome and Happiness.

    Science.gov (United States)

    Levine, Karen; Wharton, Robert

    2000-01-01

    Discussion of Williams syndrome, a genetic disorder with a variety of medical and developmental features, focuses on frequent outward expression of happiness. Analysis of the unique expression of happiness in individuals with Williams syndrome is followed by discussion of this happiness in the context of other dimensions of the syndrome,…

  18. Familial Crouzon syndrome

    Directory of Open Access Journals (Sweden)

    Y Samatha

    2010-01-01

    Full Text Available Crouzon syndrome is an autosomal dominant condition of the craniosynostotic syndromes without syndactyly and with various dentofacial anomalies. Craniosynostosis, maxillary hypoplasia, shallow orbits, ocular proptosis and hypertelorism are the characteristic features of Crouzon syndrome. This report describes the variable clinical features in affected individuals over two generations of a family with dentofacial deformities and review of literature.

  19. 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.

  20. 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.

  1. Residents’ perceptions of an integrated longitudinal curriculum: a qualitative study

    Directory of Open Access Journals (Sweden)

    Rebecca Lubitz

    2015-12-01

    Conclusions: This study suggests that an integrated longitudinalized family medicine block training model has the potential to support the principles of a longitudinal integrated competency-based curriculum to effectively prepare residents for family medicine practice.

  2. The relationship between Asperger's syndrome and schizophrenia in adolescence.

    Science.gov (United States)

    Waris, Petra; Lindberg, Nina; Kettunen, Kirsi; Tani, Pekka

    2013-04-01

    Asperger's syndrome (AS), a pervasive developmental disorder (PDD), has nowadays been widely advocated in media. Therefore, psychiatrists treating adolescents frequently meet patients as well as their families reporting of symptoms resembling those of Asperger's syndrome. It is known that symptoms of Asperger's syndrome have some overlap with those of schizophrenia, but less is known about comorbidity between these two syndromes. We describe a sample of 18 adolescents with early onset schizophrenia. Diagnosis of schizophrenia was based on assessment with Kiddie Schedule for Affective Disorders and Schizophrenia. The diagnostic interview for Social and Communication Disorders version 11 was used to assess autism spectrum disorders. Ten adolescents fulfilled symptom criteria of Asperger's syndrome after the onset of schizophrenia, while only two persons had Asperger's syndrome before the onset of schizophrenia, a prerequisite for diagnosis. 44% of the adolescents fulfilled the diagnosis of some PDD in childhood. Most of them were, however, unrecognized before the onset of schizophrenia. On the other hand, all 18 patients had one or more symptoms of PDDS in adolescence. Adolescents with schizophrenia have often symptoms consistent with AS, although only few of them have fulfilled the diagnostic criteria in their childhood, a prerequisite for the diagnosis of AS. There is a risk for misdiagnosis of adolescents with autistic symptoms if detailed longitudinal anamnesis is not obtained.

  3. 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.

  4. 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.

  5. The Down syndrome advantage: it depends on what and when you measure.

    Science.gov (United States)

    Glidden, Laraine Masters; Grein, Katherine Anne; Ludwig, Jesse Andrew

    2014-09-01

    A "Down syndrome advantage"--better outcomes for individuals with Down syndrome and their families than for those with other intellectual/developmental disabilities (IDD)--is reduced when variables confounded with diagnostic category are controlled. We compared maternal outcomes in a longitudinal sample of families rearing children with Down syndrome or other IDD, and found that a Down syndrome advantage is (a) most likely when the metric is about the son/daughter rather than the parent or family more globally, (b) may be present or absent at different ages, and (c) is partially explained by higher levels of adaptive behavior for individuals with Down syndrome. We discuss the importance of multiple measures at multiple times, and implications for family expectations and adjustment at various life stages.

  6. 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.

  7. Consistent Reconstruction of Cortical Surfaces from Longitudinal Brain MR Images

    OpenAIRE

    Li, Gang; Nie, Jingxin; Wu, Guorong; Wang, Yaping; Shen, Dinggang

    2011-01-01

    Accurate and consistent reconstruction of cortical surfaces from longitudinal human brain MR images is of great importance in studying longitudinal subtle change of the cerebral cortex. This paper presents a novel deformable surface method for consistent and accurate reconstruction of inner, central and outer cortical surfaces from longitudinal brain MR images. Specifically, the cortical surfaces of the group-mean image of all aligned longitudinal images of the same subject are first reconstr...

  8. Down syndrome: An overview

    Directory of Open Access Journals (Sweden)

    Samuel Otabor Wajuihian

    2016-03-01

    Full Text Available Optometrists as primary eye care providers examine patients from diverse populations, including those with special needs such as Down syndrome. Down syndrome is a chromosomal abnormality associated with several health conditions including vision anomalies such as refractive, accommodative and vergence anomalies, as well as ocular pathology. In this article, a narrative review of Down syndrome including the background, historical perspective, aetiology and genetic mechanisms, types, epidemiology, as well as the physical and medical profile of Down syndrome is presented.Keywords: Down syndrome review; Trisomy 21; historical perspective; etiology; types and epidemiology; features; Optometrist

  9. 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.

  10. [Postpartum endocrine syndrome].

    Science.gov (United States)

    Ducarme, G; Châtel, P; Luton, D

    2008-05-01

    Postpartum endocrine syndromes occur in the year after delivery. They are due to immunologic and vascular modifications during pregnancy. The Sheehan syndrome is the first described postpartum endocrine syndrome and consists on a hypophyse necrosis in relation with a hypovolemic shock during delivery. The immunologic consequences of the pregnancy are the most frequent, sometimes discrete and transitory. The physiological evolution of the endocrine glands during pregnancy and the most frequent post-partum endocrine syndromes are discussed: postpartum lymphocytic hypophysitis, thyroiditis and Sheehan' syndrome.

  11. Behcet's Syndrome.

    Science.gov (United States)

    Dalvi, Sam R; Yildirim, Resit; Yazici, Yusuf

    2012-12-03

    Behcet's syndrome (BS) is a vasculitis, seen more commonly around the Mediterranean and the Far East, and manifests with oral and genital ulcerations, skin lesions, uveitis, and vascular, central nervous system and gastrointestinal involvement. Its natural history of getting less severe over time, more severe disease in males and lack of specific diagnostic testing separates it from other commonly seen conditions in rheumatology. Most of the serious manifestations respond well to immunosuppression, and these are the mainstays of treatment for BS. BS is more prevalent in regions along the Silk Road, from the Mediterranean to the Far East. The genetic risk factor most strongly associated with BS is the human leukocyte antigen (HLA)-B51 allele. While genetic factors seem to play a role in the development of certain features of BS, there is general consensus that as yet unidentified environmental stimuli are necessary for initiation of disease. Proposed exogenous triggers include both bacterial and viral infections, which may then lead to dysregulation of the immune system, ultimately leading to the phenotypic expression of disease. The clinical manifestations of BS are protean in nature. While most patients develop mucocutaneous and genital ulcers along with eye disease, other patients may also present with arthritis, frank vasculitis, thrombophlebitis and CNS disease. Interestingly, the manifestations of this illness vary considerably based on gender and ethnicity. As the phenotypic expression among patients with BS is quite heterogeneous, pharmacological therapy is variable and dependent upon the severity of the disease as well as organ involvement. Treatment for BS overlaps considerably with therapies for other autoimmune diseases, including systemic lupus erythematosus, rheumatoid arthritis and the vasculitides. Pharmacological agents utilized for treatment of BS include corticosteroids, colchicine, azathioprine, and tumour necrosis factor (TNF).α inhibitors

  12. 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

  13. Direct Timing Method for Longitudinal Coordinate Determination in Straws

    OpenAIRE

    Makhankin, A. M.; Myalkovsky, V. V.; Peshekhonov, V. D.; Vasilyev, S. E.

    2013-01-01

    The considering different technics of measuring the longitudinal coordinates by the drift tubes. It is shown that the determination of the longitudinal coordinate by the direct time method provides the best longitudinal resolution. The realization of this method enables the development of coordinate detectors based on the straw with two-dimensional readout, which can be fast enough and not very complex.

  14. Longitudinal analysis of semiconductor lasers with low reflectivity facets

    Energy Technology Data Exchange (ETDEWEB)

    Baets, R.; Lagasse, P.E.; Vande Capelle, J.P.

    1985-06-01

    An analysis is made of longitudinal effects in semiconductor lasers with low facet reflectivities. For this purpose, a self-consistent model is used based on the beam propagation method, which takes into account both the lateral and longitudinal dimension. The calculations show that longitudinal effects have a significant influence on the output fields in the laser.

  15. [Epidemiology of Asperger's syndrome].

    Science.gov (United States)

    Suzuki, Yukiko; Saito, Kazuhiko

    2007-03-01

    Only a little data is available so far on the prevalence of Asperger's syndrome. The prevalence that Fombonne (2003) estimated after considering six European research was 2/10,000. In Ishikawa's study (2006) conducted in Nagoya city, Japan, the prevalence of Asperger's syndrome was 56/10,000. Currently there are not strict diagnostic criteria of Asperger's syndrome and methods of investigation are not consistent in each study. Therefore the prevalence rate for Asperger's syndrome covered very wide range. Although we still don't have a precise prevalence data on Asperger's syndrome, the awareness of this syndrome emerged in these several decades tells us that further research and support for the children of Asperger's syndrome and their family are necessary.

  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. Batch By Batch Longitudinal Emittance Blowup MD

    CERN Document Server

    Mastoridis, T; Butterworth, A; Jaussi, M; Molendijk, J

    2012-01-01

    The transverse bunch emittance increases significantly at 450 GeV from the time of injection till the ramp due to IBS. By selectively blowing up the longitudinal emittance of the incoming batch at each injection, it should be possible to reduce the transverse emittance growth rates due to IBS. An MD was conducted on April 22nd 2012 to test the feasibility and performance of the batch-by-batch longitudinal emittance blowup. There were three main goals during the MD. First, to test the developed hardware, firmware, and software for the batch-by-batch blowup. Then, to measure the transverse emittance growth rates of blown-up and "witness" batches to quantify any improvement, and finally to test the ALLInjectSequencer class, which deals with the complicated gymnastics of introducing or masking the new batch to various RF loops.

  18. LHC Longitudinal Single-Bunch Stability Threshold

    CERN Document Server

    Esteban Muller, Juan Federico; Baudrenghien, Philippe; Lasheen, Alexandre; Roggen, Toon; Shaposhnikova, Elena; Timko, Helga; CERN. Geneva. ATS Department

    2016-01-01

    The aim of the MD studies presented here was to determine with a reasonable accuracy the single-bunch longitudinal stability threshold in the LHC. The measurements were performed by placing along the ring 8 or 20 ‘single’ bunches with different intensities but similar longitudinal emittances. Then they were accelerated and bunch stability was observed at arrival to flat top. Combining the results of two measurement sessions, the single bunch stability threshold is estimated to be (2.4 ± 0.2) × 10^11 ppb for an emittance of 1.89 eVs (1.0 ns) at 6.5 TeV with 12 MV RF voltage. Measurements were taken during the MD session MD472 from 22:00 on 20th to 05:00 on 21st July 2015 and session MD365 from 17:00 on 26th to 01:00 on 27th August 2015.

  19. Multivariate Longitudinal Analysis with Bivariate Correlation Test.

    Science.gov (United States)

    Adjakossa, Eric Houngla; Sadissou, Ibrahim; Hounkonnou, Mahouton Norbert; Nuel, Gregory

    2016-01-01

    In the context of multivariate multilevel data analysis, this paper focuses on the multivariate linear mixed-effects model, including all the correlations between the random effects when the dimensional residual terms are assumed uncorrelated. Using the EM algorithm, we suggest more general expressions of the model's parameters estimators. These estimators can be used in the framework of the multivariate longitudinal data analysis as well as in the more general context of the analysis of multivariate multilevel data. By using a likelihood ratio test, we test the significance of the correlations between the random effects of two dependent variables of the model, in order to investigate whether or not it is useful to model these dependent variables jointly. Simulation studies are done to assess both the parameter recovery performance of the EM estimators and the power of the test. Using two empirical data sets which are of longitudinal multivariate type and multivariate multilevel type, respectively, the usefulness of the test is illustrated.

  20. A synthetic Longitudinal Study dataset for England and Wales.

    Science.gov (United States)

    Dennett, Adam; Norman, Paul; Shelton, Nicola; Stuchbury, Rachel

    2016-12-01

    This article describes the new synthetic England and Wales Longitudinal Study 'spine' dataset designed for teaching and experimentation purposes. In the United Kingdom, there exist three Census-based longitudinal micro-datasets, known collectively as the Longitudinal Studies. The England and Wales Longitudinal Study (LS) is a 1% sample of the population of England and Wales (around 500,000 individuals), linking individual person records from the 1971 to 2011 Censuses. The synthetic data presented contains a similar number of individuals to the original data and accurate longitudinal transitions between 2001 and 2011 for key demographic variables, but unlike the original data, is open access.

  1. A Sparse Bayesian Learning Algorithm for Longitudinal Image Data.

    Science.gov (United States)

    Sabuncu, Mert R

    2015-10-01

    Longitudinal imaging studies, where serial (multiple) scans are collected on each individual, are becoming increasingly widespread. The field of machine learning has in general neglected the longitudinal design, since many algorithms are built on the assumption that each datapoint is an independent sample. Thus, the application of general purpose machine learning tools to longitudinal image data can be sub-optimal. Here, we present a novel machine learning algorithm designed to handle longitudinal image datasets. Our approach builds on a sparse Bayesian image-based prediction algorithm. Our empirical results demonstrate that the proposed method can offer a significant boost in prediction performance with longitudinal clinical data.

  2. Marginal longitudinal semiparametric regression via penalized splines

    KAUST Repository

    Al Kadiri, M.

    2010-08-01

    We study the marginal longitudinal nonparametric regression problem and some of its semiparametric extensions. We point out that, while several elaborate proposals for efficient estimation have been proposed, a relative simple and straightforward one, based on penalized splines, has not. After describing our approach, we then explain how Gibbs sampling and the BUGS software can be used to achieve quick and effective implementation. Illustrations are provided for nonparametric regression and additive models.

  3. CLADA: cortical longitudinal atrophy detection algorithm.

    Science.gov (United States)

    Nakamura, Kunio; Fox, Robert; Fisher, Elizabeth

    2011-01-01

    Measurement of changes in brain cortical thickness is useful for the assessment of regional gray matter atrophy in neurodegenerative conditions. A new longitudinal method, called CLADA (cortical longitudinal atrophy detection algorithm), has been developed for the measurement of changes in cortical thickness in magnetic resonance images (MRI) acquired over time. CLADA creates a subject-specific cortical model which is longitudinally deformed to match images from individual time points. The algorithm was designed to work reliably for lower resolution images, such as the MRIs with 1×1×5 mm(3) voxels previously acquired for many clinical trials in multiple sclerosis (MS). CLADA was evaluated to determine reproducibility, accuracy, and sensitivity. Scan-rescan variability was 0.45% for images with 1mm(3) isotropic voxels and 0.77% for images with 1×1×5 mm(3) voxels. The mean absolute accuracy error was 0.43 mm, as determined by comparison of CLADA measurements to cortical thickness measured directly in post-mortem tissue. CLADA's sensitivity for correctly detecting at least 0.1mm change was 86% in a simulation study. A comparison to FreeSurfer showed good agreement (Pearson correlation=0.73 for global mean thickness). CLADA was also applied to MRIs acquired over 18 months in secondary progressive MS patients who were imaged at two different resolutions. Cortical thinning was detected in this group in both the lower and higher resolution images. CLADA detected a higher rate of cortical thinning in MS patients compared to healthy controls over 2 years. These results show that CLADA can be used for reliable measurement of cortical atrophy in longitudinal studies, even in lower resolution images.

  4. Space Charge Mitigation With Longitudinally Hollow Bunches

    CERN Multimedia

    Oeftiger, Adrian; Rumolo, Giovanni

    2016-01-01

    Hollow longitudinal phase space distributions have a flat profile and hence reduce the impact of transverse space charge. Dipolar parametric excitation with the phase loop feedback systems provides such hollow distributions under reproducible conditions. We present a procedure to create hollow bunches during the acceleration ramp of CERN’s PS Booster machine with minimal changes to the operational cycle. The improvements during the injection plateau of the downstream Proton Synchrotron are assessed in comparison to standard parabolic bunches.

  5. Transmission of Information by Longitudinal Electromagnetic Waves

    CERN Document Server

    Barashenkov, V S; Yuriev, M Z

    2001-01-01

    In Maxwell electrodynamics longitudinal wave irradiation is strongly forbidden by the so-called gauge invariance. However, these waves are present in virtual quantum processes and they can be used to transfer information at macroscopic distances by the displacement of the interference picture due to the change of the phase of electron wave function. The transmission can be carried out so that it will be hidden for usual observation.

  6. Renormalization of QCD under longitudinal rescaling

    CERN Document Server

    Xiao, Jing

    2009-01-01

    The form of the quantum Yang-Mills action, under a longitudinal rescaling is determined using a Wilsonian renormalization group. The high-energy limit, is the extreme limit of such a rescaling. We compute the anomalous dimensions and discuss the validity of the high-energy limit. This thesis is an expanded version of joint work with P. Orland, which appeared in arXiv:0901.2955.

  7. Longitudinal matching between SFC and SSC

    Energy Technology Data Exchange (ETDEWEB)

    Yin, Q.M.; Tang, J.Y.; Wang, S.L. [Institute of Modern Physics, China Academy of Science, Lanzhou (China)

    1998-11-01

    In order to increase the beam current and to enhance the beam quality, an upgrading program of HIRFL is going on at HIRFL. As a part of this program, the longitudinal matching between injector SFC and main machine SSC will be improved. It consists of beam energy measurement, compensation of energy loss due to stripper and a new rebuncher system. In this paper, the study results are presented. (author)

  8. Space Charge Mitigation With Longitudinally Hollow Bunches

    CERN Document Server

    Oeftiger, Adrian; Rumolo, Giovanni; CERN. Geneva. ATS Department

    2016-01-01

    Suitably, hollow longitudinal phase space distributions have a flat profile and hence reduce the impact of transverse space charge. Dipolar parametric excitation with the phase loop feedback systems provides such hollow distributions under reproducible conditions. We present a procedure to create hollow bunches during the acceleration ramp of CERN’s PS Booster machine with minimal changes to the operational cycle. The improvements during the injection plateau of the downstream Proton Synchrotron are assessed in comparison to standard parabolic bunches.

  9. Marginal longitudinal semiparametric regression via penalized splines.

    Science.gov (United States)

    Kadiri, M Al; Carroll, R J; Wand, M P

    2010-08-01

    We study the marginal longitudinal nonparametric regression problem and some of its semiparametric extensions. We point out that, while several elaborate proposals for efficient estimation have been proposed, a relative simple and straightforward one, based on penalized splines, has not. After describing our approach, we then explain how Gibbs sampling and the BUGS software can be used to achieve quick and effective implementation. Illustrations are provided for nonparametric regression and additive models.

  10. Down Syndrome Myths and Truths

    Science.gov (United States)

    ... leading human rights organization for all individuals with Down syndrome. National Down Syndrome Society 8 E 41st Street, 8th Floor New ... New York 10017 800-221-4602 [email protected] Down Syndrome What Is Down Syndrome? Down Syndrome Facts Myths & ...

  11. Longitudinal lactate levels from routine point-of-care monitoring in adult Malawian antiretroviral therapy patients: associations with stavudine toxicities

    Science.gov (United States)

    Chagoma, Newton; Mallewa, Jane; Kaunda, Symon; Njalale, Yasin; Kampira, Elizabeth; Mukaka, Mavuto; Heyderman, Robert S; van Oosterhout, Joep J

    2013-01-01

    Introduction Stavudine is still widely used in under-resourced settings such as Malawi due to its low price. It frequently causes peripheral neuropathy and lipodystrophy and increases the risk of lactic acidosis and other high lactate syndromes. Methods We studied the association of longitudinal lactate levels, obtained by routine, 3-monthly point-of-care monitoring, with peripheral neuropathy, lipodystrophy and high lactate syndromes in adult Malawians who were in the second year of stavudine containing antiretroviral therapy (ART). Results Point-of-care lactate measurements were feasible in a busy urban ART clinic. Of 1170 lactate levels collected from 253 patients over the course of one year, 487 (41.8%) were elevated (>2.2mg/dl), 58 (5.0%) were highly elevated (>3.5mg/dl). At least one elevated lactate level occurred in 210 (83.0%) of patients and sustained hyperlactatemia in 65 (26.4%). In random effects analyses lipodystrophy and peripheral neuropathy were associated with higher lactate levels. Only five patients developed high lactate syndromes (one lactic acidosis) of whom no preceding lactate measurements were available because events had started before enrolment. Lactate levels significantly decreased over time and no high lactate syndromes were observed after the 15th month on ART. Conclusion Lipodystrophy and peripheral neuropathy were associated with higher lactate levels. Lactate levels decreased over time, coinciding with absence of new high lactate syndromes after the 15th month on ART. PMID:23926161

  12. Longitudinal development of a substorm brightening arc

    Directory of Open Access Journals (Sweden)

    K. Shiokawa

    2009-05-01

    Full Text Available We present simultaneous THEMIS-ground observations of longitudinal (eastward extension of a substorm initial-brightening arc at Gillam (magnetic latitude: 65.6° at 08:13 UT on 10 January 2008. The speed of the eastward arc extension was ~2.7 km/s. The extension took place very close to the footprints of the longitudinally separated THEMIS E and D satellites at ~12 RE. The THEMIS satellites observed field dipolarization, weak earthward flow, and pressure increase, which propagated eastward from E to D at a speed of ~50 km/s. The THEMIS A satellite, located at 1.6 RE earthward of THEMIS E, observed fluctuating magnetic field during and after the dipolarization. The THEMIS E/D observations suggest that the longitudinal extension of the brightening arc at substorm onset is caused by earthward flow braking processes which produce field dipolarization and pressure increase propagating in longitude in the near-earth plasma sheet.

  13. Longitudinal analysis of mouse SDOCT volumes

    Science.gov (United States)

    Antony, Bhavna J.; Carass, Aaron; Lang, Andrew; Kim, Byung-Jin; Zack, Donald J.; Prince, Jerry L.

    2017-03-01

    Spectral-domain optical coherence tomography (SDOCT), in addition to its routine clinical use in the diagnosis of ocular diseases, has begun to fund increasing use in animal studies. Animal models are frequently used to study disease mechanisms as well as to test drug efficacy. In particular, SDOCT provides the ability to study animals longitudinally and non-invasively over long periods of time. However, the lack of anatomical landmarks makes the longitudinal scan acquisition prone to inconsistencies in orientation. Here, we propose a method for the automated registration of mouse SDOCT volumes. The method begins by accurately segmenting the blood vessels and the optic nerve head region in the scans using a pixel classification approach. The segmented vessel maps from follow-up scans were registered using an iterative closest point (ICP) algorithm to the baseline scan to allow for the accurate longitudinal tracking of thickness changes. Eighteen SDOCT volumes from a light damage model study were used to train a random forest utilized in the pixel classification step. The area under the curve (AUC) in a leave-one-out study for the retinal blood vessels and the optic nerve head (ONH) was found to be 0.93 and 0.98, respectively. The complete proposed framework, the retinal vasculature segmentation and the ICP registration, was applied to a secondary set of scans obtained from a light damage model. A qualitative assessment of the registration showed no registration failures.

  14. Longitudinal analysis of attitudes toward wolves.

    Science.gov (United States)

    Treves, Adrian; Naughton-Treves, Lisa; Shelley, Victoria

    2013-04-01

    Understanding individual attitudes and how these predict overt opposition to predator conservation or direct, covert action against predators will help to recover and maintain them. Studies of attitudes toward wild animals rely primarily on samples of individuals at a single time point. We examined longitudinal change in individuals' attitudes toward gray wolves (Canis lupus). In the contiguous United States, amidst persistent controversy and opposition, abundances of gray wolves are at their highest in 60 years. We used mailed surveys to sample 1892 residents of Wisconsin in 2001 or 2004 and then resampled 656 of these individuals who resided in wolf range in 2009. Our study spanned a period of policy shifts and increasing wolf abundance. Over time, the 656 respondents increased agreement with statements reflecting fear of wolves, the belief that wolves compete with hunters for deer (Odocoileus virginianus), and inclination to poach a wolf. Endorsement of lethal control of wolves by the state and public hunting of wolves also increased. Neither the time span over which respondents reported exposure to wolves locally nor self-reported losses of domestic animals to wolves correlated with changes in attitude. We predict future increases in legal and illegal killing of wolves that may reduce their abundance in Wisconsin unless interventions are implemented to improve attitudes and behavior toward wolves. To assess whether interventions change attitudes, longitudinal studies like ours are needed. Análisis Longitudinal de las Actitudes Hacia Lobos. © 2013 Society for Conservation Biology.

  15. Magnetization Transfer Induced Biexponential Longitudinal Relaxation

    Science.gov (United States)

    Prantner, Andrew M.; Bretthorst, G. Larry; Neil, Jeffrey J.; Garbow, Joel R.; Ackerman, Joseph J.H.

    2009-01-01

    Longitudinal relaxation of brain water 1H magnetization in mammalian brain in vivo is typically analyzed on a per voxel basis using a monoexponential model, thereby assigning a single relaxation time constant to all 1H magnetization within a given voxel. This approach was tested by obtaining inversion recovery data from grey matter of rats at 64 exponentially-spaced recovery times. Using Bayesian probability for model selection, brain water data were best represented by a biexponential function characterized by fast and slow relaxation components. At 4.7 T, the amplitude fraction of the rapidly relaxing component is 3.4 ± 0.7 % with a rate constant of 44 ± 12 s-1 (mean ± SD; 174 voxels from 4 rats). The rate constant of the slow relaxing component is 0.66 ± 0.04 s-1. At 11.7 T, the corresponding values are 6.9 ± 0.9 %, 19 ± 5 s-1, and 0.48 ± 0.02 s-1 (151 voxels from 4 rats). Several putative mechanisms for biexponential relaxation behavior were evaluated, and magnetization transfer between bulk water protons and non-aqueous protons was determined to be the source of biexponential longitudinal relaxation. MR methods requiring accurate quantification of longitudinal relaxation may need to take this effect explicitly into account. PMID:18759367

  16. Material deprivation and health: a longitudinal study.

    Science.gov (United States)

    Tøge, Anne Grete; Bell, Ruth

    2016-08-08

    Does material deprivation affect the consequences of ill health? Answering this question requires that we move beyond the effects of income. Longitudinal data on material deprivation, longstanding illness and limiting longstanding illness enables investigations of the effects of material deprivation on risk of limiting longstanding illness. This study investigates whether a shift from affording to not affording a car predicts the probability of limiting longstanding ill (LLSI). The 2008-2011 longitudinal panel of Statistics on Income, Social Inclusion and Living Conditions (EU-SILC) is utilised. Longitudinal fixed effects logit models are applied, using LLSI as dependent variable. Transition from affording a car to not affording a car is used as a proxy for material deprivation. All models are controlled for whether the person becomes longstanding ill (LSI) as well as other time-variant covariates that could affect the results. The analysis shows a statistically significant increased odds ratio of LLSI when individuals no longer can afford a car, after controlling for confounders and LSI in the previous year (1.129, CI = 1.022-1.248). However, when restricting the sample to observations where respondents report longstanding illness the results are no longer significant (1.032, CI = 0.910-1.171). The results indicate an individual level effect of material deprivation on LLSI, suggesting that material resources can affect the consequences of ill health.

  17. Multilevel Cross-Dependent Binary Longitudinal Data

    KAUST Repository

    Serban, Nicoleta

    2013-10-16

    We provide insights into new methodology for the analysis of multilevel binary data observed longitudinally, when the repeated longitudinal measurements are correlated. The proposed model is logistic functional regression conditioned on three latent 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 link function. The primary objectives of this article are to highlight the challenges in the estimation of the model components, to compare two approximations to the logistic regression function, linear and exponential, and to discuss their advantages and limitations. The linear approximation is computationally efficient whereas the exponential approximation applies for rare events functional data. Our methods are inspired by and applied to a scientific experiment on spectral backscatter from long range infrared light detection and ranging (LIDAR) data. The models are general and relevant to many new binary functional data sets, with or without dependence between repeated functional measurements.

  18. A Longitudinal Density Monitor for the LHC

    CERN Document Server

    Jeff, Adam; Boccardi, Andrea

    At the Large Hadron Collider (LHC), the world’s largest and highest energy particle accelerator, ion bunches circulate in two counter-rotating beams and are brought into collision. Each bunch is confined within a bucket by the longitudinal focusing effect of the radio frequency (RF) cavities. The RF period is 2.5 ns, while the minimum bunch spacing is 25 ns. Thus, 9 out of every 10 buckets should be empty, as well as additional gaps to allow for the rise-time of injection and dump kickers. In practice, however, small numbers of particles can occupy these supposedly empty buckets, causing problems for machine protection and for the absolute calibration of the LHC’s luminosity. The Longitudinal Density Monitor (LDM) is a new monitor, designed to measure the longitudinal distribution of particles in the LHC with a sufficiently high dynamic range to quantify the relative particle population in the supposedly empty buckets. A non-interceptive measurement is made possible by the use of synchrotron radiation (SR...

  19. Do you know this syndrome? Leopard syndrome*

    Science.gov (United States)

    Cançado, Flávio Heleno da Silva Queiroz; da Silva, Luis Candido Pinto; Taitson, Paulo Franco; de Andrade, Ana Carolina Dias Viana; Pithon, Matheus Melo; Oliveira, Dauro Douglas

    2017-01-01

    Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the abovementioned characteristics: hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment. Due to this set of symptoms, we diagnosed Leopard syndrome. PMID:28225973

  20. 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