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Sample records for problems syndromes significantly

  1. Difficulty eating and significant weight loss in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.

    Science.gov (United States)

    Baeza-Velasco, Carolina; Van den Bossche, Thomas; Grossin, Daniel; Hamonet, Claude

    2016-06-01

    Joint Hypermobility Syndrome, also known as Ehlers-Danlos Syndrome Hypermobility Type (JHS/EDS-HT), is a heritable disorder of connective tissue, common but poorly known by the medical community. Although generalized joint hypermobility and fragility of tissues have been described as core features, recent research highlights the multisystemic nature of JHS/EDS-HT, which presents with a wide range of articular and extra-articular symptoms. Among these, gastrointestinal problems, temporomandibular disorders, and smell and taste abnormalities are common among those affected, having significant implications for eating. The present work reviews the literature linking JHS/EDS-HT and eating problems. Two illustrative case reports, in which JHS/EDS-HT manifestations contribute to developing and maintaining disturbed eating behaviors and significant weight loss, are presented.

  2. Screening for Vision Problems, Including Usher's Syndrome, among Hearing Impaired Students.

    Science.gov (United States)

    Fillman, Robyn D.; And Others

    1987-01-01

    A screening program for vision problems and Usher's Syndrome (a common cause of deaf-blindness) among 210 hearing-impaired students found 44 percent had significant vision problems and 1 percent had Usher's Syndrome. The program involved an interagency network of school, health care, and support personnel and utilized a dilated ophathalmological…

  3. Behavioral Intervention for Problem Behavior in Children with Fragile X Syndrome

    Science.gov (United States)

    Moskowitz, Lauren J.; Carr, Edward G.; Durand, V. Mark

    2011-01-01

    Parents and professionals typically report problem behavior as a significant concern for children with fragile X syndrome. In the present study, the authors explored whether behaviorally based interventions would result in a reduction in problem behavior and an improvement in quality of life for 3 children with fragile X syndrome and their…

  4. [Behaviour problems of children with Down syndrome in preschool-age - Results from the Heidelberg Down syndrome study].

    Science.gov (United States)

    Sarimski, Klaus

    2018-05-01

    We report on the frequency and the correlations of behaviour problems among children with Down syndrome in preschool-age. As part of a longitudinal study 48 mothers of children with Down syndrome completed the German version of the “Strengths and Difficulties Questionnaire” (SDQ-D) and the Parenting Stress Inventory (PSI). The mothers were asked to fill out the questionnaires when the children had a mean age of five years. The results were compared to norms from children with typical development. Thirty per cent of the children with Down syndrome were rated as abnormal. Specifically, mean scores indicating problems with children of the same age and hyperactivity were elevated. A regression analysis predicting the total problem score of the SDQ-D revealed maternal educational level, optimistic attitude, and subjective parental stress at the age of one year and the degree of behavioural abnormalities at the age of three years as significant influential factors. Early intervention for Down syndrome children should include supporting parenting competence and coping skills in order to prevent behaviour problems.

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

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2013-01-01

    Based on previous findings of frequent sleep problems in children with Down syndrome (DS) and Williams syndrome (WS), the present study aimed to expand our knowledge by using parent report and actigraphy to define sleep problems more precisely in these groups. Twenty-two school-aged children with DS, 24 with WS and 52 typically developing (TD)…

  6. Diabetic foot syndrome as an interdisciplinary problem

    Directory of Open Access Journals (Sweden)

    Emilia Rymkiewicz

    2017-08-01

    Full Text Available Diabetes is a metabolic disease of the growing maturity. Diabetic foot syndrome is a chronic complications of diabetes. In neuropathic sensory disorders, ischemia of the lower limbs, and improper alignment metabolic control may occur in minor injuries around the foot, giving rise to a difficult healing ulcers. Even minor wounds rapidly infection by pathogenic bacteria, which significantly hinders their treatment. Health and life-saving solution in situations of persistent symptoms of infection is amputation of the lower limb. Doing so, however, does not solve the problem of diabetic and should be the final proceedings after having exhausted all possible treatments for diabetic foot syndrome.

  7. Behaviour Problems in the Siblings of Children with Down Syndrome: Associations with Family Responsibilities and Parental Stress.

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    Cuskelly, Monica; Hayes, Alan; Chant, David

    1998-01-01

    Forty-five Australian families with children with Down syndrome and 88 comparison families provided information about their children's behavior problems and involvement in household tasks. For the brothers of children with Down syndrome, significant negative correlations between household tasks and behavior problems were found on fathers' reports.…

  8. Sleep disorders and their clinical significance in children with Down syndrome.

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    Stores, Gregory; Stores, Rebecca

    2013-02-01

    Our aim was to review basic aspects of sleep disorders in children with Down syndrome in the light of present-day findings of such disorders in children in general, including other groups of children with developmental disabilities. A literature search of adverse developmental effects of sleep disturbance, types of sleep disturbance in children with Down syndrome, their aetiology, including possible contributions of physical and psychiatric comorbidities and medication effects, principles of assessment and diagnosis, and treatment issues, was carried out. Sleep disturbance is particularly common in children with developmental disorders including Down syndrome. Although there are just three basic sleep problems (sleeplessness or insomnia, excessive daytime sleepiness, and parasomnias) there are many possible underlying causes (sleep disorders), the nature of which dictates the particular treatment required. In children with Down syndrome, in addition to the same influences in other children, various comorbid physical and psychiatric conditions are capable of disturbing sleep. Possible adverse medication effects also need to be considered. Screening for sleep disorders and their causes should be routine; positive findings call for detailed diagnosis. Management should acknowledge the likely multifactorial aetiology of the sleep disorders in Down syndrome. Successful treatment can be expected to alleviate significantly the difficulties of both child and family. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  9. Mental Health Problems in Adults with Williams Syndrome

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    Stinton, Chris; Elison, Sarah; Howlin, Patricia

    2010-01-01

    Although many researchers have investigated emotional and behavioral difficulties in individuals with Williams syndrome, few have used standardized diagnostic assessments. We examined mental health problems in 92 adults with Williams syndrome using the Psychiatric Assessment Schedule for Adults with Developmental Disabilities--PAS-ADD (Moss,…

  10. The presence of attention-deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder worsen psychosocial and educational problems in Tourette syndrome

    DEFF Research Database (Denmark)

    Debes, Nanette; Hjalgrim, Helle; Skov, Liselotte

    2010-01-01

    been teased, and 61.8% withheld themselves from taking part in social activities because of Tourette syndrome-related problems. There were significantly more psychosocial and educational problems in children with Tourette syndrome compared with healthy controls. A higher rate of these problems was also...... seen if the comorbidities attention-deficit hyperactivity disorder (ADHD) and/or obsessive compulsive disorder were present. It is very important for the physicians, teachers, and other professionals to be aware of the high prevalence of these social and educational problems to be able to deal......We assessed the psychosocial and educational consequences of Tourette syndrome using a structured interview and child behavior checklist in 314 children with Tourette syndrome and 81 healthy controls. Of the children with Tourette syndrome, 59.0% needed some kind of educational support, 44.7% had...

  11. First-year growth in children with Noonan syndrome: Associated with feeding problems?

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    Croonen, Ellen A; Draaisma, Jos M T; van der Burgt, Ineke; Roeleveld, Nel; Noordam, Cees

    2018-04-01

    Children with Noonan syndrome show rapid decline of growth in the first year of life and feeding problems are present in over 50%. The aim of this study was to explore whether growth decelerates because of feeding problems or other Noonan syndrome-related factors. We performed a retrospective, longitudinal cohort study of clinically and genetically diagnosed subjects with Noonan syndrome (n = 143). Questionnaires about the phenotypic-genotypic profile and reported feeding problems were sent to eligible subjects. Data on first-year growth was obtained from growth charts. Ninety-one participants were excluded because of different criteria. A total of 52 subjects with Noonan syndrome were included. The largest decline in weight and length standard deviation score (SDS) occurred in the first 2.5 months after birth (-1.93 and -1.15, respectively), with feeding problems causing a decline of 0.57 SDS in the remaining months. At 1 year, children with feeding problems were on average 290 g lighter and 0.8 cm shorter than children without feeding problems. Weight gain was also negatively influenced by having a PTPN11 mutation (n = 39) and a higher gestational age, whereas children of parents with Noonan syndrome and with a higher birth weight gained more weight. Growth in length was reduced by having cardiac surgery and a higher gestational age, but positively influenced by birth length and maternal height. Growth in children with Noonan syndrome is impaired right after birth and only partially associated with feeding problems. In addition, several specific Noonan syndrome-related factors seem to influence growth in the first year. © 2018 Wiley Periodicals, Inc.

  12. Links between Sleep and Daytime Behaviour Problems in Children with Down Syndrome

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    Esbensen, A. J.; Hoffman, E. K.; Beebe, D. W.; Byars, K. C.; Epstein, J.

    2018-01-01

    Background: In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and…

  13. Problems with the language development in children with Down syndrome aged 5-7 years

    Directory of Open Access Journals (Sweden)

    Mustaf Morina

    2016-07-01

    Full Text Available This study aims to explore and investigate the linguistic developments regarding children with Down syndrome. The study was conducted by interviewing children with Down syndrome. The study shows many problems with these children associated with difficulties with the reasoning attention, imitation, routines, and language development of children with Down syndrome, such as, speech problem, a problem related to pronunciation, sound or voice. This study uses the (Inductive and Qualitative primary research (deductive method with six case studies of children with Down syndrome, being induced on the Problems and difficulties of children with the Down syndrome in the field of language development.

  14. Characterisation of Sleep Problems in Children with Williams Syndrome

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    Annaz, Dagmara; Hill, Catherine M.; Ashworth, Anna; Holley, Simone; Karmiloff-Smith, Annette

    2011-01-01

    Sleep is critical to optimal daytime functioning, learning and general health. In children with established developmental disorders sleep difficulties may compound existing learning difficulties. The purpose of the present study was to evaluate the prevalence and syndrome specificity of sleep problems in Williams syndrome (WS), a…

  15. Comorbid behavioural problems in Tourette's syndrome are positively correlated with the severity of tic symptoms.

    Science.gov (United States)

    Zhu, Yan; Leung, Kai Man; Liu, Po-zi; Zhou, Ming; Su, Lin-yan

    2006-01-01

    We studied the comorbid behavioural and mood problems in children with non-psychiatric Tourette's syndrome (TS) and their relationship with severity of tic disorder. Sixty-nine TS children and 69 healthy controls were assessed by Child Behavior Checklist (CBCL) and Yale Global Tic Severity Scale (YGTSS). The relationships between behavioural problems and severity of tic symptoms were analysed statistically by comparison, correlation and multiple linear regression. Tourette's syndrome patients scored significantly lower (ptic symptoms is positively correlated with the severity of overall impairment in school and social competence. When the behavioural and mood problems commonly associated with TS were studied in detail, we found that delinquent behaviour, thought problems, attention problems, aggressive behaviour and externalizing are positively correlated with severity of tic symptoms. The findings indicated that children with TS-only also had a broad range of behavioural problems, and some of these were related to the severity of tic symptoms.

  16. Links between sleep and daytime behaviour problems in children with Down syndrome.

    Science.gov (United States)

    Esbensen, A J; Hoffman, E K; Beebe, D W; Byars, K C; Epstein, J

    2018-02-01

    In the general population, sleep problems have an impact on daytime performance. Despite sleep problems being common among children with Down syndrome, the impact of sleep problems on daytime behaviours in school-age children with Down syndrome is an understudied topic. Our study examined the relationship between parent-reported and actigraphy-measured sleep duration and sleep quality with parent and teacher reports of daytime behaviour problems among school-age children with Down syndrome. Thirty school-age children with Down syndrome wore an actigraph watch for a week at home at night. Their parent completed ratings of the child's sleep during that same week. Their parent and teacher completed a battery of measures to assess daytime behaviour. Parent reports of restless sleep behaviours on the Children's Sleep Habits Questionnaire, but not actigraph-measured sleep efficiency, was predictive of parent and teacher behavioural concerns on the Nisonger Child Behaviour Rating Form and the Vanderbilt ADHD Rating Scales. Actigraph-measured sleep period and parent-reported sleep duration on the Children's Sleep Habits Questionnaire was predictive of daytime parent-reported inattention. Actigraph-measured sleep period was predictive of parent-reported hyperactivity/impulsivity. The study findings suggest that sleep problems have complex relationships to both parent-reported and teacher-reported daytime behaviour concerns in children with Down syndrome. These findings have implications for understanding the factors impacting behavioural concerns and their treatment in school-age children with Down syndrome. © 2017 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  17. Comparison between burning mouth syndrome patients with and without psychological problems.

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    Kim, M-J; Kim, J; Kho, H-S

    2018-07-01

    The purpose of this study was to compare clinical and socio-demographic characteristics between burning mouth syndrome (BMS) patients with and without psychological problems. Of 644 patients with symptoms of oral burning, 224 with primary BMS were selected on the basis of laboratory testing, medical history, and psychometric tests: 39 with psychological problems (age 62.5±11.5years) and 185 without psychological problems (age 58.4±11.4years). Comprehensive clinical and socio-demographic characteristics, including psychological profiles and salivary flow rates, were compared between the two groups. No significant difference in sex ratio, duration and diurnal pattern of symptoms, unstimulated whole saliva flow rate, or marital status was found between the groups. The patients with psychological problems had a significantly higher mean age, reduced stimulated whole saliva flow rate, and lower level of education than those without psychological problems. The patients with psychological problems also displayed higher rates and greater severity of various types of BMS-related symptom in most parts of the oral mucosa, higher rates of stress-related symptoms, and greater difficulties in daily activities. The severity of taste disturbance was the factor most significantly correlated with the level of psychometry. In conclusion, psychological problems in BMS patients are associated with an aggravation of BMS symptoms. Copyright © 2018 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  18. Physical health problems in adults with Prader-Willi syndrome

    NARCIS (Netherlands)

    Sinnema, M.; Maaskant, M.A.; Schrojenstein Lantman-de Valk, H.M.J. van; Nieuwpoort, I.C. van; Drent, M.L.; Curfs, L.M.G.; Schrander-Stumpel, C.T.R.M.

    2011-01-01

    Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in

  19. [Comorbidity in autism spectrum disorders - II. Genetic syndromes and neurological problems].

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    Noterdaeme, Michele A; Hutzelmeyer-Nickels, Anna

    2010-07-01

    Children with a pervasive developmental disorder show in addition to core symptoms a variety of genetic syndromes as well as neurological problems, which are relevant for the treatment and the course of the disorder. The objective of our study is to analyse the nature and the frequency of these co-morbid somatic disorders in relation to the level of intellectual functioning of the patients. The sample consists of 601 patients with a pervasive developmental disorder diagnosed at the Department of Developmental Disorders at the Heckscher-Klinikum between 1997 and 2007. In addition to genetic syndromes, we also recorded a variety of neurological disorders. 373 of the patients (62%) had at least one additional diagnosis and 121 (20%) had at least two additional diagnoses on Axis IV of the multi-axial classification scheme. Genetic syndromes were found in 6% of the patients (N = 37). Movement disorders (N = 214; 35.6%) and epilepsy (N = 98; 16.3%) were the most frequent neurological disorders. Children with mental retardation showed significantly more somatic diagnoses than children without mental retardation. Children with pervasive developmental disorders show a wide variety of co-morbid somatic problems, which are relevant for the treatment and the course of the disorder. Children with autism and mental retardation show more co-morbid conditions and are more impaired in their psychosocial adaptation than children with autism without mental retardation.

  20. The Turner Syndrome: Cognitive Deficits, Affective Discrimination, and Behavior Problems.

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    McCauley, Elizabeth; And Others

    1987-01-01

    The study attemped to link cognitive and social problems seen in girls with Turner syndrome by assessing the girls' ability to process affective cues. Seventeen 9- to 17-year-old girls diagnosed with Turner syndrome were compared to a matched control group on a task which required interpretation of affective intention from facial expression.…

  1. Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives.

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    Croonen, Ellen A; Harmsen, Mirjam; Van der Burgt, Ineke; Draaisma, Jos M; Noordam, Kees; Essink, Marlou; Nijhuis-van der Sanden, Maria W G

    2016-09-01

    Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered, the benefits of interventions they experienced, and the experiences with healthcare professionals they mentioned. We interviewed 10 adults with Noonan syndrome (two were joined by their parent), and 23 mothers (five of whom had Noonan syndrome), nine fathers (one of whom had Noonan syndrome) and one cousin who reported on 28 children with Noonan syndrome. People with Noonan syndrome reported particular problems related to pain, decreased muscle strength, fatigue, and clumsiness, which had an evident impact on functioning in daily life. Most participants believed that problems with motor performance improved with exercise, appropriate physiotherapy guidance, and other supportive interventions. Nevertheless, people with Noonan syndrome and/or their relatives did not feel heard and supported and experienced no understanding of their problems by healthcare professionals. This was the first study from a patient perspective that described the motor performance problems in people with Noonan syndrome, the major consequences in daily life, the positive experiences of interventions and the miscommunication with healthcare professionals. To achieve optimal support, healthcare professionals, as well as people with Noonan syndrome and/or their relatives themselves, should be aware of these frequently presented problems with motor performance. Research on these different aspects is needed to better understand and support people with Noonan syndrome.© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  2. Do peer relations in adolescence influence health in adulthood? Peer problems in the school setting and the metabolic syndrome in middle-age.

    Directory of Open Access Journals (Sweden)

    Per E Gustafsson

    Full Text Available While the importance of social relations for health has been demonstrated in childhood, adolescence and adulthood, few studies have examined the prospective importance of peer relations for adult health. The aim of this study was to examine whether peer problems in the school setting in adolescence relates to the metabolic syndrome in middle-age. Participants came from the Northern Swedish Cohort, a 27-year cohort study of school leavers (effective n = 881, 82% of the original cohort. A score of peer problems was operationalized through form teachers' assessment of each student's isolation and popularity among school peers at age 16 years, and the metabolic syndrome was measured by clinical measures at age 43 according to established criteria. Additional information on health, health behaviors, achievement and social circumstances were collected from teacher interviews, school records, clinical measurements and self-administered questionnaires. Logistic regression was used as the main statistical method. Results showed a dose-response relationship between peer problems in adolescence and metabolic syndrome in middle-age, corresponding to 36% higher odds for the metabolic syndrome at age 43 for each SD higher peer problems score at age 16. The association remained significant after adjustment for health, health behaviors, school adjustment or family circumstances in adolescence, and for psychological distress, health behaviors or social circumstances in adulthood. In analyses stratified by sex, the results were significant only in women after adjustment for covariates. Peer problems were significantly related to all individual components of the metabolic syndrome. These results suggest that unsuccessful adaption to the school peer group can have enduring consequences for metabolic health.

  3. Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome.

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    Reynolds, Stacey; Kreider, Consuelo M; Meeley, Lauren E; Bendixen, Roxanna M

    2015-03-01

    Feeding problems are common in boys with Barth syndrome and may contribute to the population's propensity for growth delay and muscle weakness. The purpose of this study was to quantify and describe these feeding issues and examine altered taste perception and sensory sensitivity as contributing factors. A cross-sectional, two-group comparison design was used to examine feeding preferences and behaviors, chemical taste perception, and sensory sensitivities in fifty boys with (n=24) and without (n=26) Barth ages 4-17 years. Taste perception was measured using chemical test strips saturated with phenylthiocarbamide (PTC) and sodium benzoate (NaB). Feeding problems were documented by parents using a Food Inventory, while sensory sensitivities were recorded using a Short Sensory Profile. Boys with Barth differed significantly from typical peers with regards to problem feeding behaviors. For boys with Barth, food refusal and food selectivity were identified as being present in 50% the sample, while 70% of had identified problems related to gagging or swallowing foods. About half of all Barth families noted that their child's eating habits did not match the family's and that separate meals were often prepared. As demonstrated in previous research, about 50% of boys with Barth demonstrated probable or definite differences in taste/smell sensitivity, which was significantly higher than controls. On tests of chemical taste perception, boys with Barth were significantly more likely to be supertasters to PTC and non-tasters to NaB. Taster-status did not directly relate to the presence of feeding problems, however, taste/smell sensitivity did significantly relate to food selectivity by type and texture. Results indicate feeding problems in at least 50-70% of boys with Barth syndrome, and suggest that behaviors are often present before 6 months of age. Differences in taste perception may influence dietary choices in boys with Barth, particularly their craving of salty foods

  4. Sleep problems and obstructive sleep apnea in children with down syndrome, an overwiew.

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    Maris, Mieke; Verhulst, Stijn; Wojciechowski, Marek; Van de Heyning, Paul; Boudewyns, An

    2016-03-01

    Children with Down syndrome (DS) have a high prevalence of sleep problems, including behavioural sleep disturbances and obstructive sleep apnea. Sleep problems are associated with a wide range of adverse health effects. Since children with DS are already known to have many comorbidities, they are particularly susceptible for the negative impact of sleep problems. Aim of this study is (1) to evaluate the prevalence of sleep problems in children with DS, (2) compare the prevalence of sleep problems in children with DS with a community sample of typical developing school-aged children, and (3) to correlate the existence of sleep problems in children with DS and OSA. Children enrolled at the multidisciplinary Down team of the University Hospital Antwerp and seen at the ENT department were eligible for this study. The prevalence of sleep problems was evaluated by the use of the Child Sleep Habits Questionnaire (CSHQ) and a full overnight polysomnography was performed to screen for obstructive sleep apnea. Parents of fifty-four children with DS, aged 7.5 years (5.4-11.6), completed the CSHQ and an overall prevalence of sleep problems was found in 74.1%. In 57.1% of the children OSA was diagnosed with a median obstructive apnea-hypopnea index (oAHI) 7.25/h (5.7-9.8). Overall sleep problems were not age-or gender related, however boys suffer more from daytime sleepiness. Symptoms of sleep disordered breathing correlate with parasomnias, a longer sleep duration and more daytime sleepiness. No correlation was found between sleep problems and underlying OSA. Children with Down syndrome have a significantly higher prevalence of sleep problems, compared to normal developing healthy school-aged children. We didn't find any correlation between the parental report of sleep problems and underlying OSA, or OSA severity. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Communication Problems in Turner Syndrome: A Sample Survey.

    Science.gov (United States)

    Van Borsel, John; Dhooge, Inge; Verhoye, Kristof; Derde, Kristel; Curfs, Leopold

    1999-01-01

    A survey of 128 females (ages 2-58) with Turner syndrome found almost one quarter were receiving or had received treatment for stuttering, articulation problems, and/or delayed language development, with the latter two disorders being checked most frequently. Only 4 or the 68 individuals receiving growth hormone treatment reported voice changes.…

  6. The Importance of Sleep: Attentional Problems in School-Aged Children With Down Syndrome and Williams Syndrome.

    Science.gov (United States)

    Ashworth, Anna; Hill, Catherine M; Karmiloff-Smith, Annette; Dimitriou, Dagmara

    2015-01-01

    In typically developing (TD) children, sleep problems have been associated with day-time attentional difficulties. Children with developmental disabilities often suffer with sleep and attention problems, yet their relationship is poorly understood. The present study investigated this association in school-aged children with Down syndrome (DS) and Williams syndrome (WS). Actigraphy and pulse oximetry assessed sleep and sleep-disordered breathing respectively, and attention was tested using a novel visual Continuous Performance Task (CPT).Attentional deficits were evident in both disorder groups. In the TD group, higher scores on the CPT were related to better sleep quality, higher oxyhemoglobin saturation (SpO2), and fewer desaturation events. Sleep quality, duration, and SpO2 variables were not related to CPT performance for children with DS and WS.

  7. Mechanical Ventilation–associated Lung Fibrosis in Acute Respiratory Distress Syndrome A Significant Contributor to Poor Outcome

    Science.gov (United States)

    Cabrera-Benitez, Nuria E.; Laffey, John G.; Parotto, Matteo; Spieth, Peter M.; Villar, Jesús; Zhang, Haibo; Slutsky, Arthur S.

    2016-01-01

    One of the most challenging problems in critical care medicine is the management of patients with the acute respiratory distress syndrome. Increasing evidence from experimental and clinical studies suggests that mechanical ventilation, which is necessary for life support in patients with acute respiratory distress syndrome, can cause lung fibrosis, which may significantly contribute to morbidity and mortality. The role of mechanical stress as an inciting factor for lung fibrosis versus its role in lung homeostasis and the restoration of normal pulmonary parenchymal architecture is poorly understood. In this review, the authors explore recent advances in the field of pulmonary fibrosis in the context of acute respiratory distress syndrome, concentrating on its relevance to the practice of mechanical ventilation, as commonly applied by anesthetists and intensivists. The authors focus the discussion on the thesis that mechanical ventilation—or more specifically, that ventilator-induced lung injury—may be a major contributor to lung fibrosis. The authors critically appraise possible mechanisms underlying the mechanical stress–induced lung fibrosis and highlight potential therapeutic strategies to mitigate this fibrosis. PMID:24732023

  8. Parent and Teacher Perspectives about Problem Behavior in Children with Williams Syndrome

    Science.gov (United States)

    Klein-Tasman, Bonita P.; Lira, Ernesto N.; Li-Barber, Kirsten T.; Gallo, Frank J.; Brei, Natalie G.

    2015-01-01

    Problem behavior of 52 children with Williams syndrome ages 6 to 17 years old was examined based on both parent and teacher report. Generally good inter-rater agreement was found. Common areas of problem behavior based both on parent and teacher report included attention problems, anxiety difficulties, repetitive behaviors (e.g., obsessions,…

  9. Psychopathology and behavior problems in children and adolescents with Williams syndrome: Distinctive relationships with cognition.

    Science.gov (United States)

    Osório, Ana A C; Rossi, Natália F; Gonçalves, Óscar F; Sampaio, Adriana; Giacheti, Célia M

    2017-08-01

    Several studies have documented the high prevalence of psychopathology and behavior problems in Williams syndrome (WS). However, the links between cognitive development and such symptoms need further clarification. Our study aims to expand current knowledge on levels of behavior problems and its links to cognition in a sample of Brazilian individuals with WS. A total of 25 children and adolescents with WS and their parents participated in this study. The participants' IQs were assessed with the Wechsler Scales of Intelligence (for children or adults) and parental reports of psychopathology/behavior problems were collected using the Child Behavior Checklist (CBCL). The presence of clinically significant attention problems was a main feature in our sample of children and adolescents with WS. In the children, higher IQ scores were found to be significantly associated with less externalizing problems, while in the adolescents cognitive abilities were found to be associated with less internalizing symptoms. These results provide further insight into the links between psychopathology and behavior problems and cognitive abilities in WS, and suggest the need to take age into consideration when analyzing such relationships.

  10. Ocular Problems in Triple-A Syndrome and Their Management

    Directory of Open Access Journals (Sweden)

    Seydi Okumuş

    2012-12-01

    Full Text Available Triple-A syndrome (Allgrove syndrome, is a rare autosomal recessive syndrome that is characterized by adrenal insufficiency, alacrimia and achalasia. In this report, we present a case of triple-A syndrome and discuss the ocular manifestations of the diseases along with evaluation of the therapeutic options. In addition to the classic triad of triple-A syndrome, our patient had intermittent exotropia. The patient was receiving oral steroids for adrenal insufficiency and artificial tear drops for eye dryness. Surgery was planned for exotropia. Punctum plug insertion was made simultaneously with bilateral lateral rectus recessions. Postoperative follow-up revealed near and distant horizontal deviation at the interval of ±10 PD. The patient’s complaints about eyes regressed significantly as well. Triple-A syndrome is a life threatening and rare disorder that could be fatal when undiagnosed. Punctum plugs are convenient therapy option for the treatment of xerophthalmia encountered in triple-A syndrome. With strabismus surgery including punctum plug insertion, any other surgery can be simultaneously carried out during a single session of general anesthesia. (Turk J Ophthalmol 2012; 42: 492-4

  11. 22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress.

    Science.gov (United States)

    Briegel, W; Schneider, M; Schwab, K Otfried

    2008-11-01

    22q11.2 deletion syndrome can be associated with a variety of somatic symptoms, developmental delays and psychiatric disorders. At present, there is little information on behaviour problems, parental stress and possible relations between these factors. Therefore, this study investigates behaviour problems of children and adolescents with 22q11.2DS, and their primary caregivers' stress. Parents of 4-17 year old subjects known to the German 22q11.2 deletion syndrome foundation were anonymously asked to fill out several questionnaires, e.g. the Child Behavior Checklist 4-18 (CBCL/4-18). The primary caregivers of 77/126 children [43 males, 34 females, mean age: 8;0 (4;0-16;11) years] sent back filled-out questionnaires. Forty-six of 76 subjects were rated as clinical on at least one of the CBCL-scales. Males had significantly higher scores on the total problems scale and the internalizing problems scale than females. The patients' age correlated with several CBCL-scales. Eleven of 49 subjects were suspicious of an autism spectrum disorder. Compared with the general population, but not with other parents of mentally and/or physically handicapped children, the primary caregivers experienced higher levels of stress, but showed normal life satisfaction. In spite of high rates of clinical behaviour problems among children and adolescents with 22q11.2DS and despite increased parental stress, most primary caregivers seem to have effective coping strategies, e.g. partnership support, to sustain normal levels of life satisfaction.

  12. Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives

    NARCIS (Netherlands)

    Croonen, E.A.; Harmsen, M.; Burgt, I. van der; Draaisma, J.M.T.; Noordam, C.; Essink, M.; Nijhuis-Van der Sanden, M.W.G.

    2016-01-01

    Studies from a patient perspective on motor performance problems in Noonan syndrome in daily life are lacking. The aims of this study were to provide insight into the motor performance problems that people with Noonan syndrome and/or their relatives experienced, the major consequences they suffered,

  13. Corset Usage for Gastrointestinal and Respiratory Problems in a Newborn with Prune Belly Syndrome.

    Science.gov (United States)

    Satar, Mehmet; Özlü, Ferda; Yapıcıoğlu, Hacer; İskit, Serdar

    2016-07-01

    Prune Belly syndrome (PBS), comprises a triad of anomalies that include abdominal wall flaccidity, urologic anomalies and bilateral cryptorchidism in males. The abdominal musculature hypoplasia predisposes to respiratory problems, respiratory infections secondary to impaired cough mechanism, and cause chronic constipation secondary to ineffective valsalva ability. Here, the authors present a newborn baby with Prune Belly syndrome who had respiratory and gastrointestinal problems which resolved after corset use. To the authors knowledge, this is the first case of corset usage in the treatment of PBS in a newborn infant.

  14. Effect of Means of Problem-Oriented Physical Rehabilitation on Pain and Tactile Sensitivity and Pain Syndrome Intensity in Women with Post-Mastectomy Syndrome

    Directory of Open Access Journals (Sweden)

    Т. Є. Одинець

    2015-03-01

    Full Text Available The objective of the paper is to determine the effectiveness of problem-oriented physical rehabilitation of women with post-mastectomy syndrome in terms of normalization of their sensitivity and lessening of the pain syndrome. Materials and methods. The paper provides a review of the related literary sources and empirical data analyzed and summarized, offers definitions of pain by the Visual Analogue Scale, McGill Pain Questionnaire and the Verbal Rating Scale, evaluates tactile and pain sensitivity, and uses the methods of mathematical statistics. The participants in the study were 50 women with diagnosed with the post-mastectomy syndrome and at the stage of residential treatment. Results: The developed problem-oriented physical rehabilitation experimentally proved effective by showing improvements in tactile and pain sensitivity, and pain lessening by the sensory, affective and rating scales in women with post-mastectomy syndrome at the stage of residential treatment.

  15. Mental Health Problems in Adults with Down Syndrome and Their Association with Life Circumstances

    Science.gov (United States)

    Mallardo, Mariarosa; Cuskelly, Monica; White, Paul; Jobling, Anne

    2014-01-01

    This study focused on current life circumstances, previous life events, and engagement with productive and enjoyable activities. It examined the association of these variables with mental health problems and mood in a cohort of young adults with Down syndrome. Participants were 49 adults with Down syndrome (age range 20-31 years) and their…

  16. Metabolic syndrome: a common problem among office workers.

    Science.gov (United States)

    Alavi, S S; Makarem, J; Mehrdad, R; Abbasi, M

    2015-01-01

    Metabolic syndrome (MSx) is associated with several health problems. Workers are an important part of any organization. To determine the prevalence of MSx and related variables among office workers. This cross-sectional study evaluated 1488 office workers in Qom province, Central Iran, by using a multi-stage cluster sampling. Diagnosis of MSx was based on blood HDL-cholesterol, triglyceride, and fasting blood sugar (FBS) levels and waist circumference, and blood pressure. The overall prevalence of MSx was 35.9% (95% CI 33.5% to 38.3%), higher in men (37.2%) than in women (20.6%), and increased with age. The most common laboratory findings of MSx were hypertriglyceridemia (45.9%) and low HDL-cholesterol level (45.5%). Office workers with MSx had a significantly (pMSx. Lack of regular leisure time physical activity (p=0.003), and low intake of fruits (p=0.02) were associated with MSx. The prevalence of MSx was very high among office workers. Workplace health improvement programs through identifying and preventing MSx are necessary for improvement of staff's health.

  17. Problem behavior of individuals with down syndrome in a nationwide cohort assessed in late adolescence

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M.; Fekkes, M.; Wouwe, J.P. van; Detmar, S.B.; Oudesluys-Murphy, A.M.; Verkerk, P.H.

    2013-01-01

    OBJECTIVE: To assess problem behavior in adolescents with Down syndrome and examine the association with sex and severity of intellectual disability. STUDY DESIGN: Cross-sectional data of a Dutch nationwide cohort of Down syndrome children aged 16-19 years were collected using a written parental

  18. Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems

    Directory of Open Access Journals (Sweden)

    Haruo Fujino

    2017-09-01

    Full Text Available Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Development of a psychosocial treatment to address these issues is needed in addition to psychotropic medication. The current study reports two cases of young adults with Down syndrome, who presented psychiatric symptoms and marked disruption in their daily lives. These individuals participated in a Dohsa-hou treatment program. Following treatment, adaptive levels, maladaptive behaviors, and internalizing problems were evaluated by the Vineland Adaptive Behavior Scales-II. Participants showed improvement in maladaptive behaviors and internalizing problems; however, improvement in these areas may be influenced by baseline severity of the problems. This case report suggests that Dohsa-hou could be an effective therapeutic approach for maladaptive and internalizing problems in adults with Down syndrome.

  19. Health and Sleep Problems in Cornelia de Lange Syndrome: A Case Control Study

    Science.gov (United States)

    Hall, S. S.; Arron, K.; Sloneem, J.; Oliver, C.

    2008-01-01

    Background: Self-injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. Method: 54 individuals with CdLS were compared with 46 participants with…

  20. The Significance of Brain Transcranial Sonography in Burning Mouth Syndrome: a Pilot Study.

    Science.gov (United States)

    Zavoreo, Iris; Vučićević, Vanja; Boras; Zadravec, Dijana; Bašić, Vanja; Kes; Ciliga, Dubravka; Gabrić, Dragana

    2017-03-01

    Burning mouth syndrome (BMS) is a chronic disorder which is affecting mostly postmenopausal women and is characterized by burning symptoms in the oral cavity on the clinically healthy oral mucosa. Also, the results of previous studies suggested a possible role of peripheral and/or central neurological disturbances in these patients. The aim of this study was to analyze patients with burning mouth syndrome using transcranial sonography. By use of transcranial sonography of the brain parenchyma, substantia nigra , midbrain raphe and brain nucleus were evaluated in 20 patients with BMS (64.7±12.3 years) and 20 controls with chronic pain in the lumbosacral region (61.5±15). Statistical analysis was performed by use of Student t test with significance set at pburning mouth syndrome might reflect central disturbances within this syndrome. Burning Mouth Syndrome; Transcranial Sonography; substantia nigra; Midbrain Raphe Nuclei; Red Nucleus.

  1. Adaptive Behavior and Problem Behavior in Young Children with Williams Syndrome

    Science.gov (United States)

    Hahn, Laura J.; Fidler, Deborah J.; Hepburn, Susan L.

    2014-01-01

    The present study compares the adaptive behavior profile of 18 young children with Williams syndrome (WS) and a developmentally matched group of 19 children with developmental disabilities and examines the relationship between adaptive behavior and problem behaviors in WS. Parents completed the Vineland Adaptive Behavioral Scales--Interview…

  2. Early repolarization in Wolff-Parkinson-White syndrome: prevalence and clinical significance.

    Science.gov (United States)

    Mizumaki, Koichi; Nishida, Kunihiro; Iwamoto, Jotaro; Nakatani, Yosuke; Yamaguchi, Yoshiaki; Sakamoto, Tamotsu; Tsuneda, Takayuki; Inoue, Hiroshi; Sakabe, Masao; Fujiki, Akira

    2011-08-01

    Idiopathic ventricular fibrillation (IVF) with early repolarization (ER) has recently been reported; however, ER is a common finding in healthy subjects and is also found sporadically in patients with Wolff-Parkinson-White (WPW) syndrome. The present study was designed to evaluate the prevalence and clinical significance of ER in patients with WPW syndrome. One hundred and eleven patients with WPW syndrome were studied retrospectively. Early repolarization was defined as QRS slurring or notching with J-point elevation ≥ 1 mm. The prevalence of ER was determined before and after successful catheter ablation. Before ablation, ER was found in 35 of 75 patients with a left free wall, 6 of 23 with a right free wall, and 7 of 13 with a septal accessory pathway (48 of 111, 43% as a whole). Early repolarization was always observed in leads with positive deflection of the initial part of the delta wave. After successful ablation of accessory pathways, ER was preserved in 28 (25%), disappeared in 20 (18%), and newly developed in 8 (7%) patients. In the remaining 55 (50%) patients, ER was not observed either before or after ablation. In patients with persistent ER, the amplitude and width of ER were significantly decreased 3-7 days after the ablation (1.7 ± 0.7 vs. 1.4 ± 0.6 mm, P syndrome, ER could be partly related to early depolarization through the accessory pathway. However, persistent ER and new ER appearing after the ablation were frequently found. Therefore, in these patients, mechanisms other than early depolarization may be involved in the genesis of ER.

  3. Ocular problems of computer vision syndrome: Review

    Directory of Open Access Journals (Sweden)

    Ayakutty Muni Raja

    2015-01-01

    Full Text Available Nowadays, ophthalmologists are facing a new group of patients having eye problems related to prolonged and excessive computer use. When the demand for near work exceeds the normal ability of the eye to perform the job comfortably, one develops discomfort and prolonged exposure, which leads to a cascade of reactions that can be put together as computer vision syndrome (CVS. In India, the computer-using population is more than 40 million, and 80% have discomfort due to CVS. Eye strain, headache, blurring of vision and dryness are the most common symptoms. Workstation modification, voluntary blinking, adjustment of the brightness of screen and breaks in between can reduce CVS.

  4. Beals Syndrome

    Science.gov (United States)

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

  5. Physical health problems in adults with Prader-Willi syndrome.

    Science.gov (United States)

    Sinnema, Margje; Maaskant, Marian A; van Schrojenstein Lantman-de Valk, Henny M J; van Nieuwpoort, I Caroline; Drent, Madeleine L; Curfs, Leopold M G; Schrander-Stumpel, Constance T R M

    2011-09-01

    Prader-Willi syndrome (PWS) is a genetic disorder which is characterized by severe hypotonia and feeding problems in early infancy. In later childhood and adolescence, this is followed by hyperphagia and extreme obesity if the diet is not strictly controlled. Data on physical health problems in adults with PWS are scarce. We report on the prevalence of physical health problems in a Dutch cohort of adults with PWS in relation to age, BMI, and genetic subtype. Participants (n = 102) were retrieved via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with intellectual disabilities (ID). Details regarding physical health problem spanning the participants' lifespan were collected from caretakers through semi-structured interviews. Cardiovascular problems included diabetes mellitus, hypertension, and cerebrovascular accidents. Respiratory infections were frequent in adulthood. In males, cryptorchidism was almost universal, for which 28/48 males had a history of surgery, mostly orchidopexy. None of the women had a regular menstrual cycle. Sixteen individuals had a diagnosis of osteoporosis. Spinal deformation, hip dysplasia, and foot abnormalities were common. Skinpicking, leg edema, and erysipelas were frequent dermatological problems. The findings in our group support the notion that the prevalence of physical health problems is underestimated. This underscores the importance of developing monitoring programs which would help to recognize physical health problems at an early stage. Copyright © 2011 Wiley-Liss, Inc.

  6. Metabolic Syndrome: A Common Problem among Office Workers

    Directory of Open Access Journals (Sweden)

    SS Alavi

    2015-01-01

    Full Text Available Background: Metabolic syndrome (MSx is associated with several health problems. Workers are an important part of any organization. Objective: To determine the prevalence of MSx and related variables among office workers. Methods: This cross-sectional study evaluated 1488 office workers in Qom province, Central Iran, by using a multi-stage cluster sampling. Diagnosis of MSx was based on blood HDL-cholesterol, triglyceride, and fasting blood sugar (FBS levels and waist circumference, and blood pressure. Results: The overall prevalence of MSx was 35.9% (95% CI 33.5% to 38.3%, higher in men (37.2% than in women (20.6%, and increased with age. The most common laboratory findings of MSx were hypertriglyceridemia (45.9% and low HDL-cholesterol level (45.5%. Office workers with MSx had a significantly (p<0.001 higher body mass index than those without MSx. Lack of regular leisure time physical activity (p=0.003, and low intake of fruits (p=0.02 were associated with MSx. Conclusion: The prevalence of MSx was very high among office workers. Workplace health improvement programs through identifying and preventing MSx are necessary for improvement of staff's health.

  7. Autism, ADHD, Mental Retardation and Behavior Problems in 100 Individuals with 22q11 Deletion Syndrome

    Science.gov (United States)

    Niklasson, Lena; Rasmussen, Peder; Oskarsdottir, Solveig; Gillberg, Christopher

    2009-01-01

    This study assessed the prevalence and type of associated neuropsychiatric problems in children and adults with 22q11 deletion syndrome. One-hundred consecutively referred individuals with 22q11 deletion syndrome were given in-depth neuropsychiatric assessments and questionnaires screens. Autism spectrum disorders (ASDs) and/or attention…

  8. Significance of 99mTc-MIBI myocardial SPECT imaging in diagnosis of syndrome X

    International Nuclear Information System (INIS)

    Tian Yueqing; Liu Xiujie; Jiao Shubin

    1996-01-01

    To assess the value of myocardial imaging in the diagnosis of syndrome X, the study was performed with 99m Tc-MIBI myocardial SPECT imaging in 64 patients. The patients were divided into three groups: group 1 had 21 patients diagnosed as syndrome X, group 2 had 17 patients with chest pain and normal coronary arteries without ST segment depression during exercise, group 3 had 26 patients with the angina pectoris and coronary stenoses≥50%. The myocardial SPECT imaging of the three groups was compared qualitatively and semi-quantitatively. Myocardial imaging identified 11 cases of myocardial ischemia from 21 patients with syndrome X. The ischemic score of myocardial imaging was 1.1 +- 0.3 for syndrome X and 1.8 +- 0.7 for patients with coronary heart disease (CHD) angina pectoris (t = 3.1746, P<0.01). Myocardial imaging may partly show myocardial ischemia in patients with syndrome X. The extent of ischemia in patients with syndrome X was significantly less than that in patients with CHD angina pectoris

  9. Group training in interpersonal problem-solving skills for workplace adaptation of adolescents and adults with Asperger syndrome: a preliminary study.

    Science.gov (United States)

    Bonete, Saray; Calero, María Dolores; Fernández-Parra, Antonio

    2015-05-01

    Adults with Asperger syndrome show persistent difficulties in social situations which psychosocial treatments may address. Despite the multiple studies focusing on social skills interventions, only some have focused specifically on problem-solving skills and have not targeted workplace adaptation training in the adult population. This study describes preliminary data from a group format manual-based intervention, the Interpersonal Problem-Solving for Workplace Adaptation Programme, aimed at improving the cognitive and metacognitive process of social problem-solving skills focusing on typical social situations in the workplace based on mediation as the main strategy. A total of 50 adults with Asperger syndrome received the programme and were compared with a control group of typical development. The feasibility and effectiveness of the treatment were explored. Participants were assessed at pre-treatment and post-treatment on a task of social problem-solving skills and two secondary measures of socialisation and work profile using self- and caregiver-report. Using a variety of methods, the results showed that scores were significantly higher at post-treatment in the social problem-solving task and socialisation skills based on reports by parents. Differences in comparison to the control group had decreased after treatment. The treatment was acceptable to families and subject adherence was high. The Interpersonal Problem-Solving for Workplace Adaptation Programme appears to be a feasible training programme. © The Author(s) 2014.

  10. The effect of problem-focused coping strategy training on psychological symptoms of mothers of children with down syndrome.

    Science.gov (United States)

    Pourmohamadreza-Tajrishi, Masoume; Azadfallah, Parviz; Hemmati Garakani, Sahel; Bakhshi, Enayatollah

    2015-02-01

    Anxiety is one of the most common reactions that parents show while understanding their children's intellectual disability due to Down syndrome. Anxiety leads parents not to develop appropriate relations with their children, subsequently their psychological health are at risk. The present study was aimed to determine the effect of problem-focused coping strategy training on psychological symptoms of mothers with Down child. This was an experimental study with pretest and posttest design with case and control group. Sixty-four mothers were selected randomly from Iranian Down Syndrome Charity Society. They completed Symptoms Checklist-90-Revised (SCL-90-R). They were assigned to experimental and control groups in equal. Experimental group participated in 12 training sessions (once a week; 60 minutes for each session) and received problem-focused coping strategy program, but control group did not. After 12(th) session, all subjects completed SCL-90-R again. Analysis of covariance was used for analyzing the data. There was a significant difference (Pstrategy-training program led to improve family's perception towards the child and subsequently promote of mental health of mothers with Down children.

  11. Problem Behaviour and Psychosocial Functioning in Young Children with Williams Syndrome: Parent and Teacher Perspectives

    Science.gov (United States)

    Klein-Tasman, B. P.; Lee, K.

    2017-01-01

    Background: There is sparse literature about problem behaviour in young children with Williams syndrome (WS) and little consideration of the perspectives of multiple respondents. Methods: Problem behaviour of 35 children with WS ages 2 to 6 was examined based on both parent and teacher report using the Achenbach preschool forms. Results: The most…

  12. 22q11.2 microdeletion syndrome as a multidisciplinary problem

    Directory of Open Access Journals (Sweden)

    Marta Skoczyńska

    2017-12-01

    Full Text Available 22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletion in the long arm of chromosome 22, and more rarely by microdeletion of the short arm of this chromosome or by a gene TBX1 point mutation. The consequences of these genotypic disorders are developmental anomalies of the third and fourth pharyngeal arches during the foetal life, which leads to abnormal development of the thymus, parathyroid glands and major cardiac vessels. The characteristic triad of symptoms includes a cardiac defect, hypocalcaemic tetany (hypoparathyroidism and immunodeficiency. The syndrome may also manifest as facial dysmorphia, palate defects, gastrointestinal abnormalities, urogenital malformations, autoimmune diseases and psychiatric disorders. Standard tests to diagnose this syndrome are molecular studies, such as fluorescence in situ hybridization, array comparative genomic hybridization and a type of polymerase chain reaction: multiplex ligationdependent probe amplification. The therapy of DiGeorge syndrome may include: calcium supplementation, surgical correction of cardiac and palate defects, treatment of immunodeficiency by injections of immunoglobulins, stem cell transplantation or, in rare cases, thymus transplantation. The management of DiGeorge syndrome requires a multidisciplinary approach. Early diagnosis and treatment significantly improve patient’s chances for normal functioning in adult life.

  13. Full investigation of patients with polycystic ovary syndrome (PCOS) presenting to four different clinical specialties reveals significant differences and undiagnosed morbidity.

    Science.gov (United States)

    Sivayoganathan, Dhakshana; Maruthini, Deivanayagam; Glanville, Julie M; Balen, Adam H

    2011-12-01

    This study aimed to compare the spectrum of polycystic ovary syndrome (PCOS) symptoms in patients from four different specialist clinics. A prospective cross-sectional observational study. The study was conducted at the infertility, gynaecology, endocrine and dermatology clinics at Leeds General Infirmary, U.K. Seventy women presenting with features of PCOS: 20 from infertility, 17 from gynaecology, 17 from dermatology and 16 from endocrine clinics. Participants were assessed for symptoms and signs of PCOS and underwent a full endocrine and metabolic profile and a pelvic ultrasound scan. All subjects had experienced menstrual problems, 81% were overweight, 86% had polycystic ovaries on ultrasound, 56% had hirsutism, 53% had acne, 23% had acanthosis nigricans, 16% had alopecia and 38% had previously undiagnosed impaired glucose tolerance (IGT) or diabetes. A significant difference between the four clinic groups existed with regard to menstrual patterns (p = 0.0234), frequency distribution of presenting symptoms and the percentages of patients with PCOS who had already been diagnosed as having PCOS (p = 0.0088). This study emphasizes the importance of understanding the full spectrum of PCOS as presented to different specialty clinics. Not only is the syndrome under diagnosed but also are the significant associated morbidities such as IGT and type 2 diabetes. Different specialists need to appreciate the spectrum of health problems for women with PCOS that may extend beyond the specific symptoms that precipitated the initial referral.

  14. The Significance of Brain Transcranial Sonography in Burning Mouth Syndrome: a Pilot Study

    Directory of Open Access Journals (Sweden)

    Iris Zavoreo

    2017-01-01

    Full Text Available Objective: Burning mouth syndrome (BMS is a chronic disorder which is affecting mostly postmenopausal women and is characterized by burning symptoms in the oral cavity on the clinically healthy oral mucosa. The results of previous studies suggested a possible role of peripheral and/or central neurological disturbances in these patients. The aim of this study was to analyze patients with burning mouth syndrome using transcranial sonography. Methods: By use of transcranial sonography of the brain parenchyma, substantia nigra, midbrain raphe and brain nucleus were evaluated in 20 patients with BMS (64.7±12.3 years and 20 controls with chronic pain in the lumbosacral region (61.5±15. Statistical analysis was performed by use of Student t test with significance set at p<0.05. Results: The results of this study have shown hypoechogenicity of the substantia nigra and midbrain raphe as well as hyperechogenicity of the brain nucleus in BMS patients (p<0,05 as compared to controls. Conclusions: Altered transcranial sonography findings of the brain parenchyma, midbrain raphe and brain nucleus in patients with burning mouth syndrome might reflect central disturbances within this syndrome.

  15. [Norrie syndrome (author's transl)].

    Science.gov (United States)

    Schmitz-Valckenberg, P; Scholz, W

    1977-10-01

    The Norrie syndrome, an x-chromosomal linked, recessive genetic disease, is described using ophthalmologic and genetic examinations of a family in three generations. The main symptom of this syndrome is retinal detachment with hemorrhages, which generally leads to blindness in early childhood. In addition to this, in 25--35% of the cases mental retardation and hearing problems are found. Special significance is to be attached to the differential diagnosis of this syndrome because the vascular proliferation on the retina is a non-specific, secondary reaction in children, which also occurs symptomatically in several other diseases.

  16. The social competence and behavioral problem substrate of new- and recent-onset childhood epilepsy.

    Science.gov (United States)

    Almane, Dace; Jones, Jana E; Jackson, Daren C; Seidenberg, Michael; Hermann, Bruce P

    2014-02-01

    This study examined patterns of syndrome-specific problems in behavior and competence in children with new- or recent-onset epilepsy compared with healthy controls. Research participants consisted of 205 children aged 8-18, including youth with recent-onset epilepsy (n=125, 64 localization-related epilepsy [LRE] and 61 idiopathic generalized epilepsy [IGE]) and healthy first-degree cousin controls (n=80). Parents completed the Child Behavior Checklist for children aged 6-18 (CBCL/6-18) from the Achenbach System of Empirically Based Assessment (ASEBA). Dependent variables included Total Competence, Total Problems, Total Internalizing, Total Externalizing, and Other Problems scales. Comparisons of children with LRE and IGE with healthy controls were examined followed by comparisons of healthy controls with those having specific epilepsy syndromes of LRE (BECTS, Frontal/Temporal Lobe, and Focal NOS) and IGE (Absence, Juvenile Myoclonic, and IGE NOS). Children with LRE and/or IGE differed significantly (pcompetence (Total Competence including School and Social). Similarly, children with specific syndromes of LRE and IGE differed significantly (pcompetence (Total Competence including School). Only on the Thought Problems scale were there syndrome differences. In conclusion, children with recent-onset epilepsy present with significant behavioral problems and lower competence compared with controls, with little syndrome specificity whether defined broadly (LRE and IGE) or narrowly (specific syndromes of LRE and IGE). Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians

    NARCIS (Netherlands)

    Sijmons, Rolf H.; Greenblatt, Marc S.; Genuardi, Maurizio

    Clinicians referring patients for genetic testing for Lynch syndrome will sooner or later receive results for DNA Mismatch Repair (MMR) genes reporting DNA changes that are unclear from a clinical point of view. These changes are referred to as variants of unknown, or unclear, clinical significance

  18. Clinical significance of determination of changes of plasma ET-1 and CGRP contents in elderly males with metabolic syndrome

    International Nuclear Information System (INIS)

    Sun Xiaoming; Luo Nanping; Bai Lu; Wang Xueping

    2005-01-01

    Objective: To investigate the significance of changes of plasma endothelin-1 (ET-1) and calcitonin gene related peptide (CGRP) contents in elderly males with metabolic syndrome. Methods: Plasma ET-1 and CGRP contents were measured with RIA in 65 elderly males with hypertension and 65 elderly males with diabetes. The blood lipid and sugar contents were measured simultaneously. 35 controls entered this study. Results: The plasma ET-1 contents in elderly males with simple hypertension, diabetes and metabolic syndrome were all significantly higher than those in controls (P<0.01, P<0.05, P<0.05). Levels in hypertensives were significantly higher than those in diabetics (P<0.05). The plasma CGRP levels in the elderly males with hypertension and with metabolic syndrome were all significantly lower than those in controls (P<0.05, P<0.05). The CGRP levels in these subjects were significantly negatively correlated with the ET-1 levels (r= -0.75, P<0.01; r=-0.53, P<0.01). Conclusion: Changes of plasma ET-1 and CGRP levels in elderly males with metabolic syndrome were clinically significant, especially in the pathogenesis of hypertension. (authors)

  19. Problems reported by parents of children in multiple cultures: the Child Behavior Checklist syndrome constructs

    NARCIS (Netherlands)

    A.A.M. Crijnen (Alfons); T.M. Achenbach (Thomas); F.C. Verhulst (Frank)

    1999-01-01

    textabstractOBJECTIVE: The purpose of this study was to compare syndromes of parent-reported problems for children in 12 cultures. METHOD: Child Behavior Checklists were analyzed for 13,697 children and adolescents, ages 6 through 17 years, from general population

  20. Distinct Patterns of Everyday Executive Function Problems Distinguish Children With Tourette Syndrome From Children With ADHD or Autism Spectrum Disorders.

    Science.gov (United States)

    Hovik, Kjell Tore; Egeland, Jens; Isquith, Peter K; Gioia, Gerard; Skogli, Erik Winther; Andersen, Per Normann; Øie, Merete

    2017-08-01

    The aim is to investigate the everyday executive function (EF) in children with Tourette syndrome (TS), Inattentive or Combined presentations of ADHD (ADHD-I/ADHD-C), autism spectrum disorders (ASD), and typically developing children (TDC). Nineteen TS, 33 ADHD-C, 43 ADHD-I, 34 ASD, and 50 TDC participated (8-17 years). Parents completed the Behavior Rating Inventory of Executive Function (BRIEF). TS, ADHD-C, ADHD-I, or ASD were rated with significantly more regulation problems on all scales compared with TDC. Considerable overlap of symptoms between clinical groups made differentiation difficult on individual scales. Scale configurations showed children with TS to have more problems with emotional control (EC) than cognitive flexibility in relation to children with ASD, more problems with EC than inhibitory control in relation to ADHD-C, and more problems with EC than planning/organizing in relation to ADHD-I. Paired BRIEF scales dissociated EF problems in children with TS from children with ADHD-C, ADHD-I, or ASD. Clinical relevance is discussed.

  1. Russell-Silver syndrome

    Science.gov (United States)

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

  2. Association between Speech-Language, General Cognitive Functioning and Behaviour Problems in Individuals with Williams Syndrome

    Science.gov (United States)

    Rossi, N. F.; Giacheti, C. M.

    2017-01-01

    Background: Williams syndrome (WS) phenotype is described as unique and intriguing. The aim of this study was to investigate the associations between speech-language abilities, general cognitive functioning and behavioural problems in individuals with WS, considering age effects and speech-language characteristics of WS sub-groups. Methods: The…

  3. Marfan Syndrome

    Science.gov (United States)

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

  4. Polycystic ovary syndrome: a common reproductive syndrome with long-term metabolic consequences.

    Science.gov (United States)

    Yau, T Tl; Ng, N Yh; Cheung, L P; Ma, R Cw

    2017-12-01

    Polycystic ovary syndrome is the most common endocrine disorder among women of reproductive age. Although traditionally viewed as a reproductive disorder, there is increasing appreciation that it is associated with significantly increased risk of cardiometabolic disorders. Women with polycystic ovary syndrome may present to clinicians via a variety of different routes and symptoms. Although the impact on reproduction predominates during the reproductive years, the increased cardiometabolic problems are likely to become more important at later stages of the life course. Women with polycystic ovary syndrome have an approximately 2- to 5-fold increased risk of dysglycaemia or type 2 diabetes, and hence regular screening with oral glucose tolerance test is warranted. Although the diagnostic criteria for polycystic ovary syndrome are still evolving and are undergoing revision, the diagnosis is increasingly focused on the presence of hyperandrogenism, with the significance of polycystic ovarian morphology in the absence of associated hyperandrogenism or anovulation remaining uncertain. The management of women with polycystic ovary syndrome should focus on the specific needs of the individual, and may change according to different stages of the life course. In view of the clinical manifestations of the condition, there is recent debate about whether the current name is misleading, and whether the condition should be renamed as metabolic reproductive syndrome.

  5. IRRITATED BOWEL SYNDROME IN CHILDREN

    Directory of Open Access Journals (Sweden)

    V. F. Privorotskiy

    2012-01-01

    Full Text Available Irritated bowel syndrome is a significant and underestimated problem in childhood. This condition is not so good studied in pediatrics in comparison with adult practice. Pediatricians often diagnosed this disease in infants and young children without proper reasons. The authors analyze current opinions about etiology and pathogenesis, clinical presentation, diagnosticsand treatment of irritated bowel syndrome in children. An emphasis is made on diagnostic criteria, which allow suggesting and confirming the diagnosis.

  6. Identification of significant problems related to light water reactor piping systems

    International Nuclear Information System (INIS)

    1980-07-01

    Work on the project was divided into three tasks. In Task 1, past surveys of LWR piping system problems and recent Licensee Event Report summaries are studied to identify the significant problems of LWR piping systems and the primary causes of these problems. Pipe cracking is identified as the most recurring problem and is mainly due to the vibration of pipes due to operating pump-pipe resonance, fluid-flow fluctuations, and vibration of pipe supports. Research relevant to the identified piping system problems is evaluated. Task 2 studies identify typical LWR piping systems and the current loads and load combinations used in the design of these systems. Definitions of loads are reviewed. In Task 3, a comparative study is carried out on the use of nonlinear analysis methods in the design of LWR piping systems. The study concludes that the current linear-elastic methods of analysis may not predict accurately the behavior of piping systems under seismic loads and may, under certain circumstances, result in nonconservative designs. Gaps at piping supports are found to have a significant effect on the response of the piping systems

  7. Sleeping problems in mothers and fathers of patients suffering from congenital central hypoventilation syndrome.

    Science.gov (United States)

    Paddeu, Erika Maria; Giganti, Fiorenza; Piumelli, Raffaele; De Masi, Salvatore; Filippi, Luca; Viggiano, Maria Pia; Donzelli, Gianpaolo

    2015-09-01

    Advanced medical technology has resulted in an increased survival rate of children suffering from congenital central hypoventilation syndrome. After hospitalization, these technology-dependent patients require special home care for assuring ventilator support and the monitoring of vital parameters mainly during sleep. The daily challenges associated with caring for these children can place primary caregivers under significant stress, especially at night. Our study aimed at investigating how this condition affects mothers and fathers by producing poor sleep quality, high-level diurnal sleepiness, anxiety, and depression. The study included parents of 23 subjects with congenital central hypoventilation syndrome and 23 healthy subjects. All parents filled out the Pittsburgh Sleep Quality Index (PSQI) questionnaire, Epworth Sleepiness Scale (ESS), Beck Depression Inventory (BDI-II), and Beck Anxiety Inventory (BAI). A comparison between the two groups showed that parents of patients had poorer sleep quality, greater sleepiness, and higher BDI-II scores compared to that of parents of healthy subjects (respectively, PSQI score 6.5 vs 3.8, ESS score 6.2 vs 4.3, BDI-II score 8.4 vs 5.7). Specifically, mothers of patients showed poorer sleep quality and higher BDI-II scores compared to that of mothers of controls (respectively, PSQI score 7.5 vs 3.8, BDI-II score 9.3 vs 5.9), whereas fathers of patients showed greater levels of sleepiness with respect to fathers of healthy children (respectively, ESS score 6.8 vs 4.0). These differences emerged in parents of younger children. Congenital central hypoventilation syndrome impacts the family with different consequences for mothers and fathers. Indeed, while the patients' sleep is safeguarded, sleeping problems may occur in primary caregivers often associated with other psychological disorders. Specifically, this disease affects sleep quality and mood in the mothers and sleepiness levels in the fathers.

  8. Verbal short-term memory in Down syndrome: a problem of memory, audition, or speech?

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline E

    2002-06-01

    The current study explored three possible explanations of poor verbal short-term memory performance among individuals with Down syndrome in an attempt to determine whether the condition is associated with a fundamental verbal short-term memory deficit. The short-term memory performance of a group of 19 children and young adults with Down syndrome was contrasted with that of two control groups matched for level of receptive vocabulary. The specificity of a deficit was assessed by comparing memory for verbal and visuo-spatial information. The effect of auditory problems on performance was examined by contrasting memory for auditorily presented material with that for material presented both auditorily and visually. The influence of speech-motor difficulties was investigated by employing both a traditional recall procedure and a serial recognition procedure that reduced spoken response demands. Results confirmed that individuals with Down syndrome do show impaired verbal short-term memory performance for their level of receptive vocabulary. The findings also indicated that this deficit is specific to memory for verbal information and is not primarily caused by auditory or speech-production difficulties.

  9. Assessing Genetic Variants of Uncertain Significance: The Example of Lynch Syndrome

    DEFF Research Database (Denmark)

    Rasmussen, Lene Juel; Heinen, Christopher D.

    2014-01-01

    cancer syndrome, Lynch syndrome, is used as an example. This challenge is addressed by illustrating the importance of combining genetic and functional data in future strategies to assess VUS. The proposed strategies combine clinical genetic, analytical, functional and in silico approaches....

  10. [Bladder pain syndrome--an urological-gynecological problem].

    Science.gov (United States)

    Zabkowski, Tomasz; Bortnowski, Leszek; Zieliński, Henryk

    2011-03-01

    Bladder Pain Syndrome remains a great challenge for urologists, both in diagnostics and treatment. Etiopathogenesis of the disease is unknown. It is reported that the reason for Bladder Pain Syndrome is the urothelium dysfunction resulting in the destruction of the protective glycosaminoglycan layer/barrier protecting the urothelium from bacteria adhesion and penetration of toxic substances/by bacteria. It is considered to be a syndrome of dysuria and diuresis. Urine analysis usually is normal. It is diagnosed after exclusion of other causes leading to painful symptoms. It is estimated that 90% of the cases of the disease concern women. Treatment with glycocorticosteroids, antihistaminic drugs and antiallergic drugs was not successful. The attempts to find the right method of treatment led to the introduction of hyaluronic acid, which alleviated Bladder Pain Syndrome and its symptoms. Hyaluronic acid reacting with glycosaminoglycans on the bladder decreases penetrability of irritant substances. The patients were treated with 4-8 weekly instillations--40 mg of hyaluronic acid in 50 ml NaCl solution for 1-2 months. After the last instillation, therapy is repeated for the next 6-8 months with one instillation monthly. This method is for patients a chance for getting rid of painful symptoms from the bladder

  11. Toxic shock syndrome

    Science.gov (United States)

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

  12. Adaptive Skills, Behavior Problems, and Parenting Stress in Mothers of Boys with Fragile X Syndrome

    Science.gov (United States)

    Sarimski, Klaus

    2010-01-01

    The relationship of temperament, atypical behaviors, and adaptive behavior of young boys with Fragile X syndrome on mothers' parenting stress was analyzed. Twenty-six boys with Fragile X syndrome (30-88 months of age) participated. The overall development of the participants was significantly delayed with a specific profile of adaptive behaviors…

  13. Conversational behaviour of children with Asperger syndrome and conduct disorder.

    Science.gov (United States)

    Adams, Catherine; Green, Jonathan; Gilchrist, Anne; Cox, Anthony

    2002-07-01

    Social communication problems in individuals who have Asperger syndrome constitute one of the most significant problems in the syndrome. This study makes a systematic analysis of the difficulties demonstrated with the use of language (pragmatics) in adolescents who have Asperger syndrome. Recent advances in discourse analysis were applied to conversational samples from a group of children with Asperger syndrome and a matched control group of children with severe conduct disorder. Two types of conversation were sampled from each group, differing in emotional content. The results showed that in these contexts children with Asperger syndrome were no more verbose as a group than controls, though they showed a tendency to talk more in more emotion-based conversations. Children with Asperger syndrome, as a group, performed similarly to control subjects in ability to respond to questions and comments. However, they were more likely to show responses which were problematic in both types of conversation. In addition, individuals with Asperger syndrome showed more problems in general conversation than during more emotionally and socially loaded topics. The group with Asperger syndrome was found to contain a small number of individuals with extreme verbosity but this was not a reliable characteristic of the group as a whole.

  14. Lifestyle factors are significantly associated with the locomotive syndrome: a cross-sectional study.

    Science.gov (United States)

    Akahane, Manabu; Yoshihara, Shingo; Maeyashiki, Akie; Tanaka, Yasuhito; Imamura, Tomoaki

    2017-10-18

    The Japanese Orthopedic Association first proposed the concept of "locomotive syndrome" in 2007. It refers to circumstances in which elderly people need nursing care services or are at high risk of requiring such services within a short time. Recently, the public health burden of providing nursing care for elderly individuals has increased. Therefore, locomotive syndrome, and the means of preventing it, are a major public health focus in Japan. The purpose of this study was to investigate the relationships of lifestyle factors, such as smoking, alcohol consumption, sleep duration, and dental health, with locomotive syndrome. We conducted a cross-sectional study using an internet panel survey. The participants comprised 747 individuals aged 30-90 years. Factors related to demographics (age, sex), general health (number of teeth, presence of periodontal disease), and lifestyle (smoking, alcohol consumption, sleep duration) were assessed. We also used the 25-question Geriatric Locomotive Function Scale to determine whether each participant had locomotive syndrome. Multivariate analysis was conducted using logistic regression to investigate the independent relationships between locomotive syndrome and lifestyle factors after adjusting for sex and age. A greater proportion of women (17.7%) than men (11.2%) had locomotive syndrome (p syndrome compared with those aged syndrome, whereas sleep duration was not. The frequency of alcohol consumption, except for daily drinking, was also associated with locomotive syndrome. Our study indicates that lifestyle factors, such as smoking and number of existing teeth, may partly affect the prevalence of locomotive syndrome. Hence, lifestyle modifications, such as improving oral hygiene and promoting cessation of smoking, are important means to reduce the risk of locomotive syndrome and should be promoted by public health staff.

  15. Perspectives on the clinical significance of functional pain syndromes in children

    Directory of Open Access Journals (Sweden)

    Basch MC

    2015-10-01

    Full Text Available Molly C Basch,1,2 Erika T Chow,1,3 Deirdre E Logan,1,4 Neil L Schechter,4 Laura E Simons1,2,4 1Division of Pain Medicine, Department of Anesthesiology, Perioperative and Pain Medicine, Boston Children's Hospital, 2Boston Children's Hospital, Center for Pain and the Brain, PAIN Research Group, 3Boston University School of Medicine, Boston University, 4Department of Psychiatry, Harvard Medical School, Boston, MA, USA Abstract: Functional pain syndromes (FPS characterize a subset of individuals who experience pain and related symptoms and disability without clear structural or disease etiology. In the pediatric population, FPS hold high clinical importance due to significant prevalence rates and potential to persist into adulthood. Although extensive research has been executed to disambiguate FPS, the syndromes that fall within its spectrum remain conceptually complex and sometimes ill-defined. This paper provides an overview of available research on the classification and multifaceted etiology of FPS in youth and their effects on interpersonal, psychological, and familial function. Vital aspects of a successful multidisciplinary approach to treating this population are described; however, it is evident that future research requires more longitudinal studies. Keywords: overlapping chronic pain, functional pain, primary pain disorders, pediatrics, biopsychosocial model

  16. Anxiety, attention problems, hyperactivity, and the Aberrant Behavior Checklist in fragile X syndrome.

    Science.gov (United States)

    Wheeler, Anne; Raspa, Melissa; Bann, Carla; Bishop, Ellen; Hessl, David; Sacco, Pat; Bailey, Donald B

    2014-01-01

    Behavior problems are a common challenge for individuals with fragile X syndrome (FXS) and constitute the primary clinical outcome domain in trials testing new FXS medications. However, little is known about the relationship between caregiver-reported behavior problems and co-occurring conditions such as anxiety and attention problems. In this study, 350 caregivers, each with at least one son or daughter with full-mutation FXS, rated one of their children with FXS using the Aberrant Behavior Checklist-Community Version (ABC-C); the Anxiety subscale of the Anxiety, Depression, and Mood Scale; and the Attention/Hyperactivity Items from the Symptom Inventories. In addition to examining family consequences of these behaviors, this study also sought to replicate psychometric findings for the ABC-C in FXS, to provide greater confidence for its use in clinical trials with this population. Psychometric properties and baseline ratings of problem behavior were consistent with other recent studies, further establishing the profile of problem behavior in FXS. Cross-sectional analyses suggest that selected dimensions of problem behavior, anxiety, and hyperactivity are age related; thus, age should serve as an important control in any studies of problem behavior in FXS. Measures of anxiety, attention, and hyperactivity were highly associated with behavior problems, suggesting that these factors at least coincide with problem behavior. However, these problems generally did not add substantially to variance in caregiver burden predicted by elevated behavior problems. The results provide further evidence of the incidence of problem behaviors and co-occurring conditions in FXS and the impact of these behaviors on the family. © 2013 Wiley Periodicals, Inc.

  17. TRACHEAL AND BRONCHIAL ABNORMALITIES IN PATIENTS WITH SIGNIFICANT OBSTRUCTIVE SYNDROME: ACCORDING TO BRONCHOSCOPIC

    OpenAIRE

    M. L. Shteiner

    2014-01-01

    The endobronchial pattern of significant bronchial obstructive syndrome of various etiologies was analyzed in 4,000 patients with this condition. At the same time, bronchial malformations were encountered as supplementary bronchi of the left and right basal pyramids, axillary left bronchi, supplementary and displaced tracheal bronchi, and a single case of distal transposition of the right proximal bronchus in 1.58% of cases. According to the bronchoscopic findings, supplementary bronchi and t...

  18. Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome.

    Science.gov (United States)

    Alaimo, Joseph T; Barton, Laura V; Mullegama, Sureni V; Wills, Rachel D; Foster, Rebecca H; Elsea, Sarah H

    2015-12-01

    Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder associated with intellectual disability, sleep disturbances, early onset obesity and vast behavioral deficits. We used the Behavior Problems Inventory-01 to categorize the frequency and severity of behavioral abnormalities in a SMS cohort relative to individuals with intellectual disability of heterogeneous etiology. Self-injurious, stereotyped, and aggressive/destructive behavioral scores indicated that both frequency and severity were significantly higher among individuals with SMS relative to those with intellectual disability. Next, we categorized food behaviors in our SMS cohort across age using the Food Related Problems Questionnaire (FRPQ) and found that problems began to occur in SMS children as early as 5-11 years old, but children 12-18 years old and adults manifested the most severe problems. Furthermore, we evaluated the similarities of SMS adult food-related behaviors to those with intellectual disability and found that SMS adults had more severe behavioral problems. Many neurodevelopmental disorders exhibit syndromic obesity including SMS. Prader-Willi syndrome (PWS) is the most frequent neurodevelopmental disorder with syndromic obesity and has a well-established management and treatment plan. Using the FRPQ we found that SMS adults had similar scores relative to PWS adults. Both syndromes manifest weight gain early in development, and the FRPQ scores highlight specific areas in which behavioral similarities exist, including preoccupation with food, impaired satiety, and negative behavioral responses. SMS food-related behavior treatment paradigms are not as refined as PWS, suggesting that current PWS treatments for prevention of obesity may be beneficial for individuals with SMS. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Costello Syndrome with Severe Nodulocystic Acne: Unexpected Significant Improvement of Acanthosis Nigricans after Oral Isotretinoin Treatment

    Directory of Open Access Journals (Sweden)

    Leelawadee Sriboonnark

    2015-01-01

    Full Text Available We report the case of 17-year-old female diagnosed with Costello syndrome. Genetic testing provided a proof with G12S mutation in the HRAS gene since 3 years of age with a presentation of severe nodulocystic acne on her face. After 2 months of oral isotretinoin treatment, improvement in her acne was observed. Interestingly, an unexpected significant improvement of acanthosis nigricans on her neck and dorsum of her hands was found as well. We present this case as a successful treatment option by using oral isotretinoin for the treatment of acanthosis nigricans in Costello syndrome patients.

  20. Clinical Significance of Determination of the Serum Levels of NT-proBNP and hs-CRP in Patients with Acute Coronary Syndrome

    International Nuclear Information System (INIS)

    Zheng Zhaojun; Zheng Jing; Sun Weili; Yuan Yuan; Tao Jian; Li Weipeng

    2010-01-01

    To explore the clinical significance the serum levels of N-Terminal proB-Type natriuretic peptide (NT-proBNP) and high-sensitivity C-reactive protein (hs-CRP) in patients with acute coronary syndrome,the serum levels of NT-proBNP and hs-CRP in patients and normal controls were determined by ECi Immunity Analyzer and radioimmunoassay respectively. The results showed that the serum levels of NT-proBNP and hs-CRP in patients with acute coronary syndrome were significantly higher than that of controls (P<0.05). The diagnostic specificity for acute coronary syndrome was 100% by combined detection of NT-proBNP and hs-CRP. The results suggest that the combined detection of serum NT-proBNP and hs-CRP levels are very important to evaluate heart function in patients with acute coronary syndrome. (authors)

  1. Significance of glucocorticoids and their receptors in patients with nephritic syndrome

    International Nuclear Information System (INIS)

    Yang Liusong; Li Dapei; Liu Deyi; Wang Weiyue; Wang Haodan

    1996-01-01

    The glucocorticoid receptor (GCR) in 34 patients with nephritic syndrome (NS) and 40 normal controls is investigated by radioligand binding assay. The results show that the GCR levels of NS patients are correlated well with the treatment results by glucocorticoids (GC). These patients who are sensitive to GC treatment have much higher levels of GCR than those who are not responsive to GC treatment (P<0.01) and the normal controls. The plasma ACTH and cortisol in the same subjects are also measured and the results show that NS patients have much lower levels of these two hormones than the normal controls', but no significant correlation is noted between the levels and the GC treatment effects

  2. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  3. Signals come and go: syndromic surveillance and styles of biosecurity

    OpenAIRE

    Lyle Fearnley

    2008-01-01

    This paper follows the development of a novel biosecurity technology known as ‘syndromic surveillance’. By monitoring new sources of nondiagnostic health information (911 calls, ER triage logs, pharmaceutical sales), syndromic surveillance produces new ‘territories of intelligibility’. But the implemention of syndromic systems—and the opening up of these new territories—poses a problem of interpretation. What is significant in nondiagnostic data flows? In fact, the development of a national s...

  4. Karyotype-specific ear and hearing problems in young adults with turner syndrome and the effect of oxandrolone treatment

    NARCIS (Netherlands)

    Verver, E.J.; Freriks, K.; Sas, T.C.J.; Huygen, P.L.M.; Pennings, R.J.E.; Smeets, D.F.C.M.; Hermus, A.R.M.M.; Menke, L.A.; Wit, J.M.; Otten, B.J.; Velden, J.A.M. van der; Keizer-Schrama, S.M.; Topsakal, V.; Admiraal, R.J.C.; Timmers, H.J.L.M.; Kunst, H.P.M.

    2014-01-01

    OBJECTIVE: To evaluate karyotype-specific ear and hearing problems in young-adult patients with Turner syndrome (TS) and assess the effects of previous treatment with oxandrolone (Ox). STUDY DESIGN: Double-blind follow-up study. SETTING: University hospital. PATIENTS: Sixty-five TS patients (mean

  5. Clinical significance of changes of serum hs-CRP, IL-6 and TNF-α levels after treatment in patients with polycystic ovary syndrome

    International Nuclear Information System (INIS)

    Yang Wen; Wang Ying

    2010-01-01

    Objective: To explore the clinical significance of changes of serum hs-CRP, IL-6 and TNF-α levels in patients with polycystic ovary syndrome. Methods: Serum hs-CRP (with immuno turbidity method), IL-6, TNF-α (with RIA) levels were determined in 31 patients with polycystic ovary syndrome both before and after six, month's treatment as well as 35 controls. Results: Before treatment, the serum hs-CRP, IL-6 and TNF-α levels in the 31 patients with polycystic ovary syndrome were significantly higher than those in controls (P 0.05). Serum hs-CRP levels were positive correlate with serum IL-6, TNF-α levels (r=0.6014, 0.5982, P<0.01). Conclusion: Serum hs-CRP, IL-6 and TNF-α levels were correlated to the development of polycystic ovary syndrome (PCOS). (authors)

  6. Gambling frequency, gambling problems and concerned significant others of problem gamblers in Finland: cross-sectional population studies in 2007 and 2011.

    Science.gov (United States)

    Salonen, Anne H; Alho, Hannu; Castrén, Sari

    2015-05-01

    This study compares past-year gambling frequency, gambling problems and concerned significant others (CSOs) of problem gamblers in Finland by age, from 2007 and 2011. We used random sample data collected in 2007 (n = 4722) and 2011 (n = 4484). The data were weighted, based on gender, age and region of residence. We measured the past-year gambling frequency using a categorical variable, while gambling severity was measured with the South Oaks Gambling Screen. We identified CSOs by a single question including seven response options. Chi-Squared and Fisher's exact tests were used. Overall, the past-year gambling frequency change was statistically significant between 2007 and 2011. Among 18-64-year-old Finnish people, the proportion of non-gamblers decreased. Yet, among 15-17-year-old respondents, non-gambling increased and gambling problems decreased. Among 18-24 year olds, the proportion of close ones with gambling problems also decreased. On the other hand, the proportion of family members with gambling problems increased among the 50-64 year olds. The increase in adult gambling participation was mainly explained by infrequent gambling. The proportion of gambling problems from the gamblers' and CSOs' perspective remained unchanged, yet significant changes were observed within age groups. The short-term changes in under-age gambling problems were desirable. Future studies should explore the adaptation and access hypotheses alongside gambling problems. © 2015 the Nordic Societies of Public Health.

  7. The significance of adiponectin as a biomarker in metabolic syndrome and/or coronary artery disease.

    Science.gov (United States)

    Stojanović, Sanja; Ilić, Marina Deijanin; Ilić, Stevan; Petrović, Dejan; Djukić, Svetlana

    2015-09-01

    BACKGROUND/AIM. Adiponectin exerts profound protective actions during insulin resistence or prediabetes progression towards more severe clinical entities such as metabolic syndrome and/or cardiovascular disease. Since hypoadiponectinaemia contributes to the pathophysiology of the metabolic syndrome and coronary artery disease the level of circulating adiponectin may be an early marker of cardiovascular events. The aim of this study was to determine the relationships between serum adiponectin levels and parameters of both insulin sensitivity and obesity in patients with the metabolic syndrome and/or coronary artery disease, as well as to assess predictive value of adiponectin serum levels as a biomarker of these entitetis. The study included 100 patients with metabolic syndrome and/or coronary artery disease with different degree of insulin resistance and healthy, normoglycemic individuals. The control group comprising healthy, normoglycemic individuals was used for comparison. Serum level of adiponectin, fasting glucose, fasting insulinemia Homeostasis Model Assessment of Insulin Resistance (HOMA-IR) index and anthropometric parameters were determined in all the subjects. Adiponectin was measured by using the ultrasensitive ELISA method. Insulinemia was measured by the radioimmunoassay (RIA) method. The presence of glycemic disorders was assessed on the basis of oral glucose tolerance test (OGTT). Results. Adiponectin level was inversely correlated with age (ρ = -0.015), parameters of both obesity (R = 0.437;p insulin resistance (R = 0.374; p insulin resistance. Most importantly, a statistically significant rapid decrease ih adiponectin was in the prediabetic stages (p < 0.01). The predictor value of adiponectin was 1,356.32 ± 402.65 pg/mL. The obtained resultats suggest that adiponectin may be a useful marker in identification of individuals with risk of developing metabolic syndrome and coronary artery disease, as well as a predictor of prediabetes.

  8. The significance of adiponectin as a biomarker in metabolic syndrome and/or coronary artery disease

    Directory of Open Access Journals (Sweden)

    Stojanović Sanja

    2015-01-01

    Full Text Available Introduction/Aim. Adiponectin exerts profound protective actions during insulin resistence or prediabetes progression towards more severe clinical entities such as metabolic syndrome and/or cardiovascular disease. Since hypoadiponectinaemia contributes to the pathophysiology of the metabolic syndrome and coronary artery disease the level of circulating adiponectin may be an early marker of cardiovascular events. The aim of this study was to determine the relationships between serum adiponectin levels and parameters of both insulin sensitivity and obesity in patients with the metabolic syndrome and/or coronary artery disease, as well as to assess predictive value of adiponectin serum levels as a biomarker of these entitetis. Methods. The study included 100 patients with metabolic syndrome and/or coronary artery disease with different degree of insulin resistance and healthy, normoglycemic individuals. The control group comprising healthy, normoglycemic individuals was used for comparison. Serum level of adiponectin, fasting glucose, fasting insulinemia Homeostasis Model Assessment of Insulin Resistance (HOMAIR index and anthropometric parameters were determined in all the subjects. Adiponectin was measured by using the ultrasensitive ELISA method. Insulinemia was measured by the radioimmunoassay (RIA method. The presence of glycemic disorders was assessed on the basis of oral glucose tolerance test (OGTT. Results. Adiponectin level was inversely correlated with age (ρ = - 0.015, parameters of both obesity (R = 0.437; p < 0.001 and insulin resistance (R = 0.374; p < 0.01. Decreasing in the level of adiponectin was strongly implicated in the development of insulin resistance. Most importantly, a statistically significant rapid decrease in adiponectin was in the prediabetic stages (p < 0.01. The predictor value of adiponectin was 1,356.32 ± 402.65 рg/mL. Conclusions. The obtained resultats suggest that adiponectin may be a useful marker in

  9. Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

  10. Alexithymia, Emotion Perception, and Social Assertiveness in Adult Women with Noonan and Turner Syndromes

    NARCIS (Netherlands)

    Roelofs, R.L.; Wingbermühle, P.A.M.; Freriks, K.; Verhaak, C.M.; Kessels, R.P.C.; Egger, J.I.M.

    2015-01-01

    Noonan syndrome (NS) and Turner syndrome (TS) are associated with cognitive problems and difficulties in affective information processing. While both phenotypes include short stature, facial dysmorphisms, and a webbed neck, genetic etiology and neuropsychological phenotype differ significantly. The

  11. An Educator's Guide to Tourette Syndrome.

    Science.gov (United States)

    Bronheim, Suzanne

    1991-01-01

    Tourette Syndrome is described in terms of causes, treatment, associated disorders (attention deficit hyperactivity disorder, obsessive-compulsive behaviors, learning disabilities), and classroom management (dealing with tics, writing problems, language problems, and attention problems). Common teacher questions concerning Tourette Syndrome are…

  12. Gilles de la Tourette's syndrome in a patient with 47(XXX) syndrome: a case report.

    Science.gov (United States)

    Chiappedi, Matteo; de Vincenzi, Silvia; Dolci, Roberta; De Luca, Sara; Bejor, Maurizio

    2011-11-05

    To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX) syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX) syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX) syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning) poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  13. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

    Science.gov (United States)

    Buchanan, Daniel D; Rosty, Christophe; Clendenning, Mark; Spurdle, Amanda B; Win, Aung Ko

    2014-01-01

    Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening) is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification) and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the data from published studies are combined, 59% (95% confidence interval [CI]: 55% to 64%) of colorectal cancers and 52% (95% CI: 41% to 62%) of endometrial cancers with MMR deficiency were identified as suspected Lynch syndrome. Recent studies estimated that colorectal cancer risk for relatives of suspected Lynch syndrome cases is lower than for relatives of those with MMR gene mutations, but higher than for relatives of those with tumor MMR deficiency resulting from methylation of the MLH1 gene promoter. The cause of tumor MMR deficiency in suspected Lynch syndrome cases is likely due to either unidentified germline MMR gene mutations, somatic cell mosaicism, or biallelic somatic

  14. [Problem and assignment for distinguishing the Usher syndrome type].

    Science.gov (United States)

    Iwasaki, Satoshi; Yoshimura, Hidekane; Takeichi, Norito; Satou, Hiroaki; Ishikawa, Kotaro; Kaga, Kimitaka; Kumakawa, Kozou; Nagai, Kyoko; Furuya, Nobuhiko; Ikezono, Tetsuo; Nakanishi, Hiroshi; Naitou, Yasu; Fukushima, Kunihiro; Tono, Tetsuya; Kimitsuki, Takashi; Nishio, Shinya; Takumi, Yutaka; Usami, Shinichi

    2012-10-01

    Usher syndrome is an autosomal-recessive disorder that causes bilateral sensorineural hearing loss, retinitis pigmentosa (RP), and occasionally vestibular dysfunction. Usher syndrome types 1, 2, and 3 can be distinguished by differences in audiovestibular features. The objectives of this retrospective study were to evaluate 26 patients with Usher syndrome clinically. The 26 patients (male: 12 cases, female: 14 cases) with Usher syndrome, with a clinical diagnosis based on symptoms of bilateral sensorineural hearing loss and RP, had been registered from 13 hospitals as a multicenter study. We assessed the clinical history and performed audiovestibular and ophthalmologic examinations, and genetic testing. Eleven of the patients were classified as having Usher type 1 (38.5%), 6 with Usher type 2 (23.1%), and 9 with Usher type 3 (38.5%). However, many patients with atypical Usher type 1 (70%) and type 2 (83.3%) were found compared with Usher type 3 (10%). The conductive rate of vestibular examinations including the caloric test (50%) was low. There were many variations in the clinical symptoms in Usher syndrome patients, therefore the classification of Usher types 1, 2, and 3 has been complicated. We have proposed a flowchart for the diagnosis of Usher types 1, 2, and 3.

  15. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    International Nuclear Information System (INIS)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M.

    2014-01-01

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  16. Significant fibrosis after radiation therapy in a patient with Marfan Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Suarez, Eva M.; Knackstedt, Rebecca J.; Jenrette, Joseph M. [Medical University of South Carolina, Charleston (United States)

    2014-09-15

    Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. It has been suggested that plasma transforming growth factor beta 1 (TGF-beta1) can be monitored as a predictor of subsequent fibrosis in this population of high risk patients. We therefore monitored the patient's TGF-beta1 level during and after treatment. Despite maintaining stable levels of plasma TGF-beta1, our patient still developed extensive fibrosis resulting in impaired range of motion. Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity.

  17. Assessment of the Influence of Background Noise on Escape-Maintained Problem Behavior and Pain Behavior in a Child with Williams Syndrome.

    Science.gov (United States)

    O'Reilly, Mark F.; Lacey, Claire; Lancioni, Giulio E.

    2000-01-01

    A study examined the influence of background noise on levels of problem behavior and pain behavior under functional analysis conditions for a 5-year-old with Williams syndrome and hyperacusis. When the child was fitted with earplugs, there were substantial decreases in both problem and pain behavior under the background noise condition. (Contains…

  18. 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.

  19. Relationships between Problem Behaviors and Academic Achievement in Adolescents: The Unique Role of Attention Problems.

    Science.gov (United States)

    Barriga, Alvaro Q.; Doran, Jeffrey W.; Newell, Stephanie B.; Morrison, Elizabeth M.; Barbetti, Victor; Robbins, Brent Dean

    2002-01-01

    This study examined relationships among eight teacher-reported problem behavior syndromes and standardized measures of academic achievement among 58 adolescents in an alternative school. Analysis suggested association between attention problems and academic achievement was primarily due to inattention component of the syndrome rather than the…

  20. Respiratory problems in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Fete, Timothy

    2014-10-01

    The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm- and mesoderm-derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.

  1. Wernicke–Korsakoff syndrome

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    Yu. P. Sivolap

    2014-01-01

    Full Text Available Wernicke’s encephalopathy and Korsakoff’s psychosis are the acute and chronic phases of Wernicke–Korsakov syndrome, a neurodegenerative process that is caused by thiamine deficiency and predominantly develops in persons with severe alcohol problems. In accordance with classical descriptions, Wernicke’s encephalopathy is manifested by a triad of the following major symptoms: ophthalmoplegia (or nystagmus, ataxia, and clouding of consciousness. The predominance of the subtle forms of Wernicke’s encephalopathy, which hinders its timely recognition and treatment, presents a serious problem. When left untreated, Wernicke’s encephalopathy is characterized by a high risk for a fatal outcomeand transition from acute reversible disorders to chronic irreversible cerebral structural changes associated with the occurrence of memory consolidation. The main manifestation of Korsakoff’s syndrome is the absence of or significant reduction in the ability to store new information with the relative preservation of other psychic functions. Effective care for patients with Wernicke’s encephalopathy and prevention of Korsakoff’s psychosis require that high-dose thiamine should be administered parenterally in good time. Alpha-lipoic acid along with thiamine is used in the treatment of polyneuropathy accompanied by Wernicke–Korsakoff syndrome. Untreated Wernicke’s encephalopathy is considered to lead to Korsakoff’s psychosis in above 80% of cases and to death in almost 15–20%. There is complete recovery from Korsakoff’s psychosis in approximately 20% of cases; with the lapse of time there may be a significant recovery of cognitive functions in 25% of cases.

  2. Significance of lung anomalies in fetuses affected by tetralogy of Fallot with absent pulmonary valve syndrome.

    Science.gov (United States)

    Tenisch, Estelle; Raboisson, Marie-Josée; Rypens, Françoise; Déry, Julie; Grignon, Andrée; Lapierre, Chantale

    2017-11-01

    Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is related to the severity of the cardiac malformation and to bronchial tree compression by dilated pulmonary arteries. This study analyses the prenatal echographic lung appearance in fetuses with tetralogy of Fallot with absent pulmonary valve and discusses its significance. We carried out a retrospective review of fetal and postnatal files of nine fetuses diagnosed with tetralogy of Fallot with absent pulmonary valve syndrome in our institution. Correlations of prenatal ultrasound and cardiac imaging findings were obtained with outcome. Abnormal heterogeneous fetal lung echogenicity was detected in eight cases out of nine, always associated with significant lobar arterial dilatation. This aspect was well correlated with postnatal imaging and outcome in the four neonatal cases. The only fetus with normal lung echogenicity also had lower degree of pulmonary artery dilatation in the series. This study demonstrates that a heterogeneous ultrasound appearance of the fetal lungs can be detected in utero in the most severe cases. This aspect suggests an already significant compression of the fetal bronchial tree by the dilated arteries that may have prognostic implications.

  3. TRACHEAL AND BRONCHIAL ABNORMALITIES IN PATIENTS WITH SIGNIFICANT OBSTRUCTIVE SYNDROME: ACCORDING TO BRONCHOSCOPIC

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    M. L. Shteiner

    2014-01-01

    Full Text Available The endobronchial pattern of significant bronchial obstructive syndrome of various etiologies was analyzed in 4,000 patients with this condition. At the same time, bronchial malformations were encountered as supplementary bronchi of the left and right basal pyramids, axillary left bronchi, supplementary and displaced tracheal bronchi, and a single case of distal transposition of the right proximal bronchus in 1.58% of cases. According to the bronchoscopic findings, supplementary bronchi and transpositions of the left bronchi are the most common anatomic bronchial abnormalities (1.08%.

  4. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)

    NARCIS (Netherlands)

    Pennings, R.J.E.; Kremer, J.M.J.; Deutman, A.F.; Kimberling, W.J.; Cremers, C.W.R.J.

    2002-01-01

    Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their

  5. The significance of anthropometric and endocrine parameters in ovulation induction with clomiphene citrate in women with polycystic ovary syndrome.

    Science.gov (United States)

    Akpinar, Funda; Dilbaz, Berna; Cırık, Derya A; Yilmaz, Saynur; Kiykac, Sadiman; Karahanoglu, Ertugrul; Mollamahmutoglu, Leyla

    2016-11-01

    To investigate factors associated with the response to ovarian stimulation in patients with polycystic ovary syndrome. Methods: The records of patients with polycystic ovary syndrome and infertility who underwent ovulation induction with clomiphene citrate were reviwed between January 2011 and December 2014 in Etlik Zübeyde Hanim Women's Health Training and Research Hospital Ankara, Turkey. The anthropometric and endocrine factors of patients who were resistant to treatment at a dose of 150 mg/day (n=84) were compared with those who responded with growth of at least one graaffian follicle at a dose of 50 mg/day (n=342). Results: Of the parameters examined, body mass index, luteinizing hormone level, and luteinizing hormone/follicle stimulating hormone ratio were significantly higher in the clomiphene citrate-resistant group compared with the responsive group. Conclusion: Reproductive treatment in patients with polycystic ovary syndrome show different outcomes. Significantly higher body mass index, luteinizing hormone level, and luteinizing hormone/follicle stimulating hormone ratio observed in clomiphene citrate resistant group can be a possible explanation for this impedance.

  6. Gilles de la Tourette's syndrome in a patient with 47(XXX syndrome: a case report

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    Chiappedi Matteo

    2011-11-01

    Full Text Available Abstract Introduction To the best of our knowledge, this is the first report of a comorbidity between Gilles de la Tourette's syndrome and 47 (XXX syndrome. The clinical picture of Gilles de la Tourette's Syndrome is well described, while 47 (XXX syndrome is much more rare and has a broader spectrum of possible phenotypic presentations. Case presentation An Italian Caucasian girl was referred at the age of 11 to our Rehabilitation Center for anxiety and learning difficulties. The girl had already been diagnosed as having 47(XXX syndrome; she had some rather typical features of the chromosomal abnormality, but she also showed a high level of anxiety and the presence of motor and vocal tics. When an accurate history was taken, a diagnosis of Gilles de la Tourette's Syndrome emerged. Conclusions The possible interaction between peculiar features of these two syndromes in terms of neuropsychological and affective functioning is both interesting for the specific case and to hypothesize models of rehabilitation for patients with one or both syndromes. Executive functions are specifically reduced in both syndromes, therefore it might be hard to discriminate the contribution of each one to the general impairment; the same applies to anxiety. Moreover, mental retardation (with a significantly lower verbal cognitive functioning poses relevant problems when suggesting cognitive behavioral or psychoeducational rehabilitative approaches.

  7. A national profile of Tourette syndrome, 2011-2012.

    Science.gov (United States)

    Bitsko, Rebecca H; Holbrook, Joseph R; Visser, Susanna N; Mink, Jonathan W; Zinner, Samuel H; Ghandour, Reem M; Blumberg, Stephen J

    2014-06-01

    To provide recent estimates of the prevalence of Tourette syndrome among a nationally representative sample of US children and to describe the association of Tourette syndrome with indicators of health and functioning. Data on 65,540 US children aged 6 to 17 years from the 2011-2012 National Survey of Children's Health were analyzed. Parents reported whether a health care provider had ever told them their child had Tourette syndrome or other neurobehavioral or chronic health conditions and whether their child had current Tourette syndrome. Based on parents' report, 0.19% of US children had Tourette syndrome; the average age of diagnosis was 8.1 years. Children with Tourette syndrome, compared with those without, were more likely to have co-occurring neurobehavioral and other health conditions, meet criteria for designation as having a special health care need, receive mental health treatment, have unmet mental health care needs, and have parents with high parenting aggravation and parents who were contacted about school problems; they were less likely to receive effective care coordination or have a medical home. After controlling for co-occurring neurobehavioral conditions, the findings on parents being contacted about school problems and children having unmet mental health care needs were no longer significant. Tourette syndrome is characterized by co-occurring neurobehavioral and other health conditions, and poorer health, education, and family relationships. The findings support previous recommendations to consider co-occurring conditions in the diagnosis and treatment of Tourette syndrome. Future research may explore whether having a medical home improves outcomes among children with Tourette syndrome.

  8. Challenging behavior: Behavioral phenotypes of some genetic syndromes

    Directory of Open Access Journals (Sweden)

    Buha Nataša

    2014-01-01

    Full Text Available Challenging behavior in individuals with mental retardation (MR is relatively frequent, and represents a significant obstacle to adaptive skills. The frequency of specific forms and manifestations of challenging behavior can depend on a variety of personal and environmental factors. There are several prominent theoretical models regarding the etiology of challenging behavior and psychopathology in persons with MR: behavioral, developmental, socio-cultural and biological. The biological model emphasizes the physiological, biochemical and genetic factors as the potential source of challenging behavior. The progress in the field of genetics and neuroscience has opened the opportunity to study and discover the neurobiological basis of phenotypic characteristics. Genetic syndromes associated with MR can be followed by a specific set of problems and disorders which constitutes their behavioral phenotype. The aim of this paper was to present challenging behaviors that manifest in the most frequently studied syndromes: Down syndrome, Fragile X syndrome, Williams syndrome, Prader-Willi syndrome and Angelman syndrome. The concept of behavioral phenotype implies a higher probability of manifesting specific developmental characteristics and specific behaviors in individuals with a certain genetic syndrome. Although the specific set of (possible problems and disorders is distinctive for the described genetic syndromes, the connection between genetics and behavior should be viewed through probabilistic dimension. The probabilistic concept takes into consideration the possibility of intra-syndrome variability in the occurrence, intensity and time onset of behavioral characteristics, at which the higher variability the lower is the specificity of the genetic syndrome. Identifying the specific pattern of behavior can be most important for the process of early diagnosis and prognosis. In addition, having knowledge about behavioral phenotype can be a landmark in

  9. Clinical significance of measurement of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome

    International Nuclear Information System (INIS)

    Wang Xiaoyan

    2011-01-01

    Objective: To explore the clinical significance of changes of plasma leptin and serum IL-6, IL-18 levels after treatment in patients with children nephrotic syndrome. Methods: Plasma leptin (with RIA) serum IL-6, IL-18 (with ELISA) levels were measured in 31 patients with children nephrotic syndrome both before and after treatment as well as in 30 controls. Results: Before treatment,the plasma leptin and serum IL-6, IL-18 levels were significantly higher than those in controls(P <0.01). After treatment for 3 months, the levels in patients though dropped markedly remained significantly higher than those in controls (P<0.05). Plasma leptin levels were positively correlated with IL-6, IL-18 levels (r=0.6138, 0.5784, P<0.01). Conclusion: Changes of plasma leptin and serum IL-6, IL-18 levels after treatment might be of prognostic importance in patients with children nephrotic syndrome. (authors)

  10. Questioning the significance of the non-identity problem in applied ethics.

    Science.gov (United States)

    Lawlor, Rob

    2015-11-01

    Authors such as Tony Hope and Julian Savulescu appeal to Derek Parfit's non-identity problem in relation to particular questions in applied ethics, and particularly in reproductive ethics. They argue that the non-identity problem shows that an individual cannot be harmed by being brought into existence, and therefore, we cannot say that the individual is harmed if, for example, we select an embryo in order to have a deaf child. Thus, they argue that an appeal to the non-identity problem blocks (or significantly reduces the force of) objections in a number of cases. I argue that these discussions often give the impression that this is a clear conclusion, shared by most philosophers, and largely beyond dispute. This is particularly significant because these discussions are often in journals or books with an interdisciplinary readership. My concern is that they give the impression of stating: 'philosophers have studied this issue, and this is the conclusion they have reached. Now I will emphasise the implications for medical ethics'. I argue that, far from being the consensus view, the view presented by Hope and Savulescu is rejected by many, including Parfit himself. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  11. Cardio-renal syndrome

    OpenAIRE

    Gnanaraj, Joseph; Radhakrishnan, Jai

    2016-01-01

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

  12. Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

    Directory of Open Access Journals (Sweden)

    Sefa Resim

    2015-01-01

    Full Text Available Klinefelter syndrome is the most common sex chromosome abnormality (SCA in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17/47,XYY (13. Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE/intracytoplasmic sperm injection (ICSI cycles and preimplantation genetic diagnosis (PGD. To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

  13. Living with Moebius syndrome: adjustment, social competence, and satisfaction with life.

    Science.gov (United States)

    Bogart, Kathleen Rives; Matsumoto, David

    2010-03-01

    Moebius syndrome is a rare congenital condition that results in bilateral facial paralysis. Several studies have reported social interaction and adjustment problems in people with Moebius syndrome and other facial movement disorders, presumably resulting from lack of facial expression. To determine whether adults with Moebius syndrome experience increased anxiety and depression and/or decreased social competence and satisfaction with life compared with people without facial movement disorders. Internet-based quasi-experimental study with comparison group. Thirty-seven adults with Moebius syndrome recruited through the United States-based Moebius Syndrome Foundation newsletter and Web site and 37 age- and gender-matched control participants recruited through a university participant database. Anxiety and depression, social competence, satisfaction with life, ability to express emotion facially, and questions about Moebius syndrome symptoms. People with Moebius syndrome reported significantly lower social competence than the matched control group and normative data but did not differ significantly from the control group or norms in anxiety, depression, or satisfaction with life. In people with Moebius syndrome, degree of facial expression impairment was not significantly related to the adjustment variables. Many people with Moebius syndrome are better adjusted than previous research suggests, despite their difficulties with social interaction. To enhance interaction, people with Moebius syndrome could compensate for the lack of facial expression with alternative expressive channels.

  14. Incontinence in persons with Down Syndrome.

    Science.gov (United States)

    Niemczyk, Justine; von Gontard, Alexander; Equit, Monika; Medoff, David; Wagner, Catharina; Curfs, Leopold

    2017-08-01

    To assess the rates of incontinence and associated psychological problems in children, adolescents and adults with Down Syndrome, a genetic syndrome caused by partial or complete triplication (trisomy) of chromosome 21 and characterized by typical facial features, a physical growth delay and mild or moderate intellectual disability. Three hundred and seventeen persons with Down Syndrome (4-51 years) were recruited through a German parent support group (59.6% male, mean age 19.2 years). The Parental Questionnaire: Enuresis/Urinary Incontinence, the Incontinence Questionnaire-Pediatric Lower Urinary Tract Symptoms, as well as the Developmental Behavior Checklist (DBC) for parents or for adults were filled out by parents or care-givers. 17.2% of the sample had nocturnal enuresis, 15.9% had daytime urinary incontinence, and 14.2% had fecal incontinence. Incontinence was present in 64.0% of young children (4-12 years), 10.3% of teens (13-17 years), 12.8% of young adults (18-30 years) and in 22.4% of older adults (>30 years). 13.6% of children and 8.4% of adults had a DBC score in the clinical range. 19.5% of children and 27.8% of adults with incontinence had behavioral problems. There was a significant association between nocturnal enuresis, daytime urinary incontinence and clinical DBC scores in adults. Incontinence in Down Syndrome is mainly present in young children and increases in older adults. Behavioral comorbidity is associated with incontinence only in adults with Down Syndrome. Screening and treatment of incontinence in individuals with Down Syndrome is recommended. © 2016 Wiley Periodicals, Inc.

  15. Roberts-SC syndrome, a rare syndrome and cleft palate repair

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    Murthy Jyotsna

    2008-01-01

    Full Text Available Roberts SC syndrome is a rare syndrome with only 17 previously recognized patients reported in medical literature. The syndrome is characterized by multiple malformations, particularly, symmetrical limb reduction, craniofacial anomalies such as bilateral cleft lip and palate, micrognathia, and severe growth and mental retardation. Our patient, a young child of five years having Roberts-SC, was successfully operated for cleft palate under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed in this report.

  16. Parental characteristics, parenting style, and behavioral problems among chinese children with Down syndrome, their siblings and controls in Taiwan.

    Science.gov (United States)

    Gau, Susan Shur-Fen; Chiu, Yen-Nan; Soong, Wei-Tsuen; Lee, Ming-Been

    2008-09-01

    The literature has documented maternal distress and behavioral problems among children with Down syndrome (DS), however, little is known about paternal adjustment and behavioural problems among the siblings of children with DS. Here, we examined parental psychopathology, parenting style and emotional/behavioral problems among children with DS, their siblings, and controls in Taiwan. We recruited 45 families of children with DS (age, 2-4 years) and 50 families of normally developing children (age, 3-5 years). If there were more than two children in the case family, the sibling whose age was closest to the child with DS was recruited (age, 3-8 years). Both parents completed self-administered measures of their personality characteristics, psychopathology, family functioning, parenting styles, and child behavioral problems, using the Chinese versions of the Maudsley Personality Inventory, Brief Symptom Rating Scale, Family Adaptability and Cohesion Evaluation Scale, Parental Bonding Instrument, and Child Behavioral Checklist, respectively. Children with DS demonstrated significantly more severe symptoms than normal children of a wide range of behavioral problems such as attention problems, delinquency, social problems, somatic complaints, thought problems, and withdrawal compared with the other two groups, and obtained similar parental treatment, except for paternal overprotection. Their parents suffered from more psychopathology and their mothers were less often employed than their counterparts. The siblings of children with DS obtained less overprotection from their mothers than children with DS and less maternal care and control than normal children. There was no difference in emotional/behavioral problems between the siblings and normal controls. Our findings suggest that in addition to the physical, educational and psychological needs of children with DS, the psychological care of their mothers, fathers and siblings also needs to be evaluated. Moreover, parenting

  17. Development, problem behavior, and quality of life in a population based sample of eight-year-old children with Down syndrome.

    Directory of Open Access Journals (Sweden)

    Helma B M van Gameren-Oosterom

    Full Text Available OBJECTIVE: Children with Down syndrome (DS have delayed psychomotor development. We investigated levels of development, problem behavior, and Health-Related Quality of Life (HRQoL in a population sample of Dutch eight-year-old children with DS. Developmental outcomes were compared with normative data of eight-year-old children from the general population. METHOD: Over a three-year-period all parents with an eight-year-old child with DS were approached by the national parent organization. Developmental skills were assessed by means of the McCarthy Scales of Children's Ability. To measure emotional and behavioral problems we used the Child Behavior Checklist. HRQoL was assessed with the TNO-AZL Children's Quality of Life questionnaire. Analyses of variance were applied to compare groups. RESULTS: A total of 337 children participated. Mean developmental age was substantially lower than mean calendar age (3.9 years, SD 0.87 and 8.1 years, SD 0.15 respectively. Mean developmental age was significantly lower among boys than girls (3.6 (SD 0.85 and 4.2 years (SD 0.82 respectively; p<0.001. Compared with the general population, children with DS had more emotional and behavioral problems (p<0.001. However on the anxious/depressed scale, they scored significantly more favorably (p<0.001. Significantly lower HRQoL scores for the scales gross motor skills, autonomy, social functioning and cognitive functioning were found (p-values<0.001. Hardly any differences were observed for the scales physical complaints, positive and negative emotions. CONCLUSION: Eight-year-old children with DS have an average developmental delay of four years, more often have emotional and behavioral problems, and have a less favorable HRQoL compared with children from the general population.

  18. Tourette syndrome and comorbid conditions: a spectrum of different severities and complexities.

    Science.gov (United States)

    Rizzo, Renata; Gulisano, Mariangela; Pellico, Alessandra; Calì, Paola Valeria; Curatolo, Paolo

    2014-10-01

    To investigate clinical correlates of Tourette syndrome and to identify the impact of comorbidities, we retrospectively recruited 92 young people affected by Tourette syndrome compared with 102 healthy controls. Neuropsychological assessment included: Youth Quality of Life-Research, Multidimensional Anxiety Scale for Children, Children's Depression Inventory, and Conner's and Child Behavior Checklist; moreover, Tourette syndrome patients completed the Yale Global Tic Severity Rating Scale and the Yale-Brown Obsessive Compulsive Scale. Four clinical subgroups were identified: pure Tourette syndrome (49.8%), Tourette syndrome plus attention-deficit hyperactivity disorder (ADHD) (22.2%), Tourette syndrome plus obsessive-compulsive disorder (21.5%), and Tourette syndrome plus ADHD plus obsessive-compulsive disorder (6.5%). Our findings suggested that emotional lability appeared in all Tourette syndrome subgroups, independently from comorbidities, representing a clinical feature of Tourette syndrome itself. Moreover, our data suggested that all 4 clinical subgroups had higher statistically significant behavioral problems compared with the healthy controls (P = .000), whereas affective and anxiety symptoms were overrepresented in Tourette syndrome plus comorbidities subgroups. Finally, Tourette syndrome patients had a lower quality of life compared with the healthy controls. These differences were statistically significant between the pure Tourette syndrome subgroups and Tourette syndrome plus comorbidities subgroups, as well as Tourette syndrome plus comorbidities subgroups and healthy controls. © The Author(s) 2014.

  19. The Basic Nature of Ethical Problems Experienced by Persons with Acquired Immunodeficiency Syndrome: Implications for Nursing Ethics Education and Practice.

    Science.gov (United States)

    Cameron, Miriam E.; And Others

    1993-01-01

    Twenty-five persons with acquired immunodeficiency syndrome (AIDS) described and validated 100 ethical problems that are experienced by people with AIDS from 3 levels of ethical inquiry: descriptive ethics, normative ethics, and metaethics. Findings suggest strategies for improving nursing ethics education. (JOW)

  20. Development, problem behavior, and quality of life in a population based sample of eight-year-old children with down syndrome

    NARCIS (Netherlands)

    Gameren-Oosterom, H.B.M. van; Fekkes, M.; Buitendijk, S.E.; Mohangoo, A.D.; Bruil, J.; Wouwe, J.P. van

    2011-01-01

    Objective: Children with Down syndrome (DS) have delayed psychomotor development. We investigated levels of development, problem behavior, and Health-Related Quality of Life (HRQoL) in a population sample of Dutch eight-year-old children with DS. Developmental outcomes were compared with normative

  1. Fragile X syndrome

    Science.gov (United States)

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

  2. Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

    Science.gov (United States)

    Abel, Emily A; Tonnsen, Bridgette L

    2017-10-01

    Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  3. Comparative study on attitudes and psychological problems of mothers towards their children with developmental disability.

    Science.gov (United States)

    Shobana, M; Saravanan, C

    2014-03-01

    Parents' positive attitudes and psychological wellbeing play an important role in the development of the children with developmental disability. This study aimed to measure the prevalence of psychological problems among mothers of children with autism disorder, intellectual disability, and Down syndrome. The second aim was to assess the differences in mothers' attitudes and psychological problems among their children with intellectual disability, autism disorder, and Down syndrome. The third aim was to identify whether negative attitude was a predictor of psychological problems in these mothers. In this study, 112 mothers of children having mild and moderate levels of autism disorder, Down syndrome, and intellectual disability were assessed using the Parental Attitude Scale and General Health Questionnaire-28. Overall, mothers of children with intellectual disability were found to have the most negative attitude towards their child. Mothers of children with autism disorder exhibited higher scores on somatic symptoms, anxiety, and social dysfunction when compared with their counterparts with Down syndrome and intellectual disability. Negative attitude was a significant predictor of psychological problems. Parental attitudes and psychological problems would vary among mothers of children with different types of developmental disability.

  4. The Psychoeducational Characteristics of Children with Turner Syndrome.

    Science.gov (United States)

    Rovet, Joanne F.

    1993-01-01

    This study compared psychoeducational characteristics of 67 children (ages 6-16) with Turner syndrome and 27 nonaffected controls. Subjects exhibited selective impairments in visuospatial and memory areas; significant underachievement in arithmetic; poor social competence; and increased behavior problems, particularly in the area of hyperactivity.…

  5. Stress cardiomyopathy: Is it limited to Takotsubo syndrome? Problems of definition.

    Science.gov (United States)

    Sarapultsev, Petr A; Sarapultsev, Alexey P

    2016-10-15

    In 2006, Takotsubo syndrome (TTC) was described as a distinct type of stress-induced cardiomyopathy (stress cardiomyopathy). However, when thinking about Takotsubo cardiomyopathy from the viewpoints of the AHA and ESC classifications, 2 possible problems may arise. The first potential problem is that a forecast of disease outcome is lacking in the ESC classification, whereas the AHA only states that 'outcome is favorable with appropriate medical therapy'. However, based on the literature data, one can make a general conclusion that occurrence of myocardial lesions in TTC (i.e., myocardial fibrosis and contraction-band necrosis) causes the same effects as in other diseases with similar levels of myocardial damage and should not be considered to have a lesser impact on mortality. To summarise, TTC can cause not only severe complications such as pulmonary oedema, cardiogenic shock, and dangerous ventricular arrhythmias, but also damage to the myocardium, which can result in the development of potentially fatal conditions even after the disappearance of LV apical ballooning. The second potential problem arises from the definition of TTC as a stress cardiomyopathy in the AHA classification. In fact, the main factors leading to TTC are stress and microvascular anginas, since, as has been already discussed, coronary spasm can cause myocardium stunning, resulting in persistent apical ballooning. Thus, based on this review, 3 distinct types of stress cardiomyopathies exist (variant angina, microvascular angina, and TTC), with poor prognosis. Adding these diseases to the classification of cardiomyopathies will facilitate diagnosis and preventive prolonged treatment, which should include intensive anti-stress therapy. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. Down syndrome: a cardiovascular perspective

    NARCIS (Netherlands)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart

  7. Papillon-Lefevre syndrome with pseudoainhum

    Directory of Open Access Journals (Sweden)

    P Ashwani

    2010-01-01

    Full Text Available An interesting episode of Papillon-Lefevre syndrome in a 25-year-old female with diffuse palmoplantar keratoderma, periodontitis and pseudoainhum of the toes is reported for academic interest. Her skin lesions improved with topical keratolytics and oral retinoid (acitretin whereas periodontic problems showed significant improvement with systemic antibiotics and proper implementation of oral hygienic measures. She is undergoing oral rehabilitation with orthodontic surgical procedures.

  8. Autoerythrocyte Sensitization Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Pinar Ozuguz

    2014-04-01

    Full Text Available Autoerythrocyte sensitization syndrome or Gardner-Diamond syndrome is a rare syndrome, characterized by recurrent, spontaneous, painful ecchymosis. The lesions occur particularly after emotional stress or mild trauma. Psychiatric problems are commonly observed in these patients. The lower limbs and the trunk are the most often localizations; however, lesions can appear on any other skin area. It is thought to be a sensitivity to intradermally injected autoerythrocyte. The diagnosis is usually based on typical anamnesis, clinical presentation, absence of specific laboratory changes and positive intradermal test. This syndrome should be considered in the differential diagnosis of purpura, especially in patients with psychiatric problems and without any coagulopathy. Herein, a case of 38 year-old-female who has recurrent ecchymoses on her legs, fatigue, headache and sleeping problems is presented.

  9. Group Training in Interpersonal Problem-Solving Skills for Workplace Adaptation of Adolescents and Adults with Asperger Syndrome: A Preliminary Study

    Science.gov (United States)

    Bonete, Saray; Calero, María Dolores; Fernández-Parra, Antonio

    2015-01-01

    Adults with Asperger syndrome show persistent difficulties in social situations which psychosocial treatments may address. Despite the multiple studies focusing on social skills interventions, only some have focused specifically on problem-solving skills and have not targeted workplace adaptation training in the adult population. This study…

  10. Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

    Science.gov (United States)

    Frković, Sanda Huljev; Durisević, Ivana Tonković; Trcić, Ruzica Lasan; Sarnavka, Vladimir; Gornik, Kristina Crkvenac; Muzinić, Dubravka; Letica, Ljiljana; Barić, Ivo; Begović, Davor

    2010-03-01

    Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.

  11. Gorlin-Goltz Syndrome

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    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.

  12. Development of in vitro and in vivo functional assays to enable diagnosis of Variants of Uncertain Significance in the common cancer predisposition Lynch syndrome

    NARCIS (Netherlands)

    Drost, Mark

    2014-01-01

    Lynch syndrome (LS) is caused by germline mutations in DNA mismatch repair (MMR) genes and is the most prevalent hereditary colorectal cancer syndrome. A significant proportion of variants identified in MMR and other common cancer susceptibility genes are missense or noncoding changes whose

  13. [Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age].

    Science.gov (United States)

    Sarimski, Klaus

    2017-11-01

    Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. These results show significantly elevated stress scores in scales measuring demanding and less acceptable behavior of the children (child characteristics). Scores in scales measuring parent characteristics do not differ significantly from the norms. Global stress scores are associated with the degree of behavioral problems (SDQ) and adaptive competence (VABS-II). A regression analysis points to optimism as a dispositional trait of the mother which makes a significant contribution to the prediction of parenting stress scores. The implications for early intervention are discussed.

  14. Foot Problems in Older Adults Associations with Incident Falls, Frailty Syndrome, and Sensor-Derived Gait, Balance, and Physical Activity Measures.

    Science.gov (United States)

    Muchna, Amy; Najafi, Bijan; Wendel, Christopher S; Schwenk, Michael; Armstrong, David G; Mohler, Jane

    2018-03-01

    Research on foot problems and frailty is sparse and could advance using wearable sensor-based measures of gait, balance, and physical activity (PA). This study examined the effect of foot problems on the likelihood of falls, frailty syndrome, motor performance, and PA in community-dwelling older adults. Arizona Frailty Cohort Study participants (community-dwelling adults aged ≥65 years without baseline cognitive deficit, severe movement disorders, or recent stroke) underwent Fried frailty and foot assessment. Gait, balance (bipedal eyes open and eyes closed), and spontaneous PA over 48 hours were measured using validated wearable sensor technologies. Of 117 participants, 41 (35%) were nonfrail, 56 (48%) prefrail, and 20 (17%) frail. Prevalence of foot problems (pain, peripheral neuropathy, or deformity) increased significantly as frailty category worsened (any problem: 63% in nonfrail, 80% in prefrail [odds ratio (OR) = 2.0], and 95% in frail [OR = 8.3]; P = .03 for trend) due to associations between foot problems and both weakness and exhaustion. Foot problems were associated with fear of falling but not with fall history or incident falls over 6 months. Foot pain and peripheral neuropathy were associated with lower gait speed and stride length; increased double support time; increased mediolateral sway of center of mass during walking, age adjusted; decreased eyes open sway of center of mass and ankle during quiet standing, age adjusted; and lower percentage walking, percentage standing, and total steps per day. Foot problems were associated with frailty level and decreased motor performance and PA. Wearable technology is a practical way to screen for deterioration in gait, balance, and PA that may be associated with foot problems. Routine assessment and management of foot problems could promote earlier intervention to retain motor performance and manage fear of falling in older adults, which may ultimately improve healthy aging and reduce risk of frailty.

  15. Down Syndrome: A Cardiovascular Perspective

    Science.gov (United States)

    Vis, J. C.; Duffels, M. G. J.; Winter, M. M.; Weijerman, M. E.; Cobben, J. M.; Huisman, S. A.; Mulder, B. J. M.

    2009-01-01

    This review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skillful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and…

  16. [From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

    Science.gov (United States)

    Pennings, R J E; Kremer, H; Deutman, A F; Kimberling, W J; Cremers, C W R J

    2002-12-07

    Usher syndrome is an autosomal recessively inherited disease, characterised by sensorineural hearing loss, tapetoretinal degeneration and in some cases vestibular problems. Based on the clinical heterogeneity, the disease can be classified into three clinical types (I, II and III), which have their own genetic subtypes (Usher 1A-Usher IG, Usher 2A-Usher 2C and Usher 3). The majority of the Usher type I cases are caused by mutations in the MYO7A gene (Usher 1B) while mutations in the USH2A gene (Usher 2A) are the cause of most cases of type II. Usher syndrome type III, caused by mutations in the USH3 gene, is frequently seen only in Finland.

  17. Improvement of upper limb’s condition of women with post mastectomy syndrome with the help of problem-oriented program of physical rehabilitation

    Directory of Open Access Journals (Sweden)

    Y.A. Briskin

    2015-11-01

    Full Text Available Purpose: to determine effectiveness of problem-oriented program of women’s physical rehabilitation with post mastectomy syndrome in improvement of upper limb’s functional state. Material: 50 women with early symptoms of post mastectomy syndrome at stationary rehabilitation stage, who underwent radical mastectomy by Madden were involved in the research. Testing of movement amplitude in shoulder joint, swelling of upper limb and muscular strength of hand’s flexors was conducted on 2 nd day after surgery and at the end of stationary rehabilitation period (12-14 th day. Results: Main means of the authors’ program were: general and special physical exercises; static and dynamic breathing exercises; breathing through preloaded lips, controlled coughing, autogenic drainage, manual pressing, manual vibration; post-isometric relaxation; elements of labor therapy; lymphatic drainage massage and self massage; topical talks; consultations; auto training. The trainings were conducted individually 2-3 times a day; 20-30 minutes every session. The patients’ independent trainings included: fulfillment of therapeutic positions, self-massage, relaxation exercises and auto-training. Conclusions: application of problem-oriented physical rehabilitation program facilitates improvement of upper limb’s functional potentials of women with post mastectomy syndrome.

  18. Recognition and management of Tourette's syndrome and tic disorders.

    Science.gov (United States)

    Bagheri, M M; Kerbeshian, J; Burd, L

    1999-04-15

    Tic disorders and Tourette's syndrome are conditions that primary care physicians are likely to encounter. Up to 20 percent of children have at least a transient tic disorder at some point. Once believed to be rare, Tourette's syndrome is now known to be a more common disorder that represents the most complex and severe manifestation of the spectrum of tic disorders. Tourette's syndrome is a chronic familial disorder with a fluctuating course; the long-term outcome is generally favorable. Although the exact underlying pathology has yet to be determined, evidence indicates a disorder localized to the frontal-subcortical neural pathways. Tourette's syndrome is commonly associated with attention-deficit/hyperactivity disorder, obsessive-compulsive disorder, behavior problems and learning disabilities. These comorbid conditions make the management of Tourette's syndrome more challenging. Management of Tourette's syndrome should include timely and accurate diagnosis, education, and behavior or pharmacologic interventions. Use of neuroleptic medications and dopamine D2 antagonist drugs can be effective but may be associated with significant side effects.

  19. Language and Literacy in Turner Syndrome

    Science.gov (United States)

    Murphy, Melissa M.

    2009-01-01

    Language problems can be associated with specific genetic syndromes, such as Klinefelter syndrome and fragile X syndrome, even in the absence of intellectual and developmental disabilities. Turner syndrome, a relatively common genetic disorder, is caused by the complete or partial absence of 1 of the 2 X chromosomes typically present in women. The…

  20. Viewing Social Scenes: A Visual Scan-Path Study Comparing Fragile X Syndrome and Williams Syndrome

    Science.gov (United States)

    Williams, Tracey A.; Porter, Melanie A.; Langdon, Robyn

    2013-01-01

    Fragile X syndrome (FXS) and Williams syndrome (WS) are both genetic disorders which present with similar cognitive-behavioral problems, but distinct social phenotypes. Despite these social differences both syndromes display poor social relations which may result from abnormal social processing. This study aimed to manipulate the location of…

  1. Attention in Williams Syndrome and Down's Syndrome: Performance on the New Early Childhood Attention Battery

    Science.gov (United States)

    Breckenridge, Kate; Braddick, Oliver; Anker, Shirley; Woodhouse, Margaret; Atkinson, Janette

    2013-01-01

    Attentional problems are commonly reported as a feature of the behavioural profile in both Williams syndrome (WS) and Down's syndrome (DS). Recent studies have begun to investigate these impairments empirically, acknowledging the need for an approach that considers cross-syndrome comparisons and developmental changes across the different component…

  2. Epidemiological predictors of metabolic syndrome in urban West Bengal, India.

    Science.gov (United States)

    Chakraborty, Sasthi Narayan; Roy, Sunetra Kaviraj; Rahaman, Md Abdur

    2015-01-01

    Metabolic syndrome is one of the emerging health problems of the world. Its prevalence is high in urban areas. Though pathogenesis is complex, but the interaction of obesity, sedentary lifestyle, dietary, and genetic factors are known as contributing factors. Community-based studies were very few to find out the prevalence or predictors of the syndrome. To ascertain the prevalence and epidemiological predictors of metabolic syndrome. A total of 690 study subjects were chosen by 30 clusters random sampling method from 43 wards of Durgapur city. Data were analyzed in SPSS version 20 software and binary logistic regression was done to find out statistical significance of the predictors. Among 32.75% of the study population was diagnosed as metabolic syndrome according to National Cholesterol Education Program Adult Treatment Panel III definition with a modification for Asia Pacific cut-off of waist circumference. Odds were more among females (2.43), upper social class (14.89), sedentary lifestyle (17.00), and positive family history. The overall prevalence of metabolic syndrome was high in urban areas of Durgapur. Increased age, female gender, higher social status, sedentary lifestyle, positive family history, and higher education were the statistically significant predictors of metabolic syndrome.

  3. In search of the egalitarian syndrome: cultural inertia in Croatia?

    Directory of Open Access Journals (Sweden)

    Ivan Burić

    2016-12-01

    Full Text Available In 1970, Josip Županov presented his Egalitarian Syndrome Theory (EST to account for the country’s suboptimal socioeconomic development. The theory was operationalized only recently (Štulhofer and Burić, 2015, which enabled an assessment of the persistence of egalitarian syndrome, as well as the testing of its hypothesized (negative association with indicators of social development. Using data from a 2015 national probability survey, this study aimed to provide additional validation of the multidimensional measure of the egalitarian syndrome, including age and gender invariance testing, as well as to explore the hypothesized negative association with county-level development indices. The findings support Županov’s theoretical assumptions. Rural vs. urban residence, education and occupation, but not participants’ age, were significant predictors of the support for egalitarian syndrome. Significant negative associations were observed between the acceptance of values associated with the egalitarian syndrome and county-level development and competitiveness scores, GDP and early entrepreneurial activity. Although our study was not designed to test the causal relationship between radical egalitarianism and socioeconomic development, the findings suggest that the widespread prevalence of the egalitarian syndrome may be a problem for the country’s socio-economic development.

  4. Mother-child agreement on behavioral ratings in Tourette syndrome: a controlled study.

    Science.gov (United States)

    Termine, Cristiano; Luoni, Chiara; Selvini, Claudia; Bandera, Valentina; Balottin, Umberto; Eddy, Clare M; Cavanna, Andrea E

    2014-01-01

    In Tourette syndrome, motor and phonic tics are associated with a spectrum of psychiatric disorders. As proxy report instruments are commonly used to assess children with Tourette syndrome, we investigated the relationship between child and mother ratings of behavioral problems. We enrolled 28 children with Tourette syndrome (25 males; mean age, 13.9 years) and 61 gender- and age-matched healthy controls (55 males; mean age, 14.7 years). Clinicians completed measures of tic severity, and all children completed the Youth Self-Report version of the Child Behavior Checklist, while their mothers completed the Child Behavior Checklist. In the clinical group, Youth Self-Report scores were significantly lower than mothers' Child Behavior Checklist scores across the majority of subscales (especially affect and somatization). In contrast, for the control group, mother and child ratings only differed for the externalizing behavior subscales. Clinicians should be aware of these differences between self and mother ratings for specific behavioral problems in Tourette syndrome.

  5. Clinically Significant Behavior Problems among Young Children 2 Years after the Great East Japan Earthquake

    Science.gov (United States)

    Fujiwara, Takeo; Yagi, Junko; Homma, Hiroaki; Mashiko, Hirobumi; Nagao, Keizo; Okuyama, Makiko

    2014-01-01

    Background On March 11, 2011, a massive undersea earthquake and tsunami struck East Japan. Few studies have investigated the impact of exposure to a natural disaster on preschool children. We investigated the association of trauma experiences during the Great East Japan Earthquake on clinically significant behavior problems among preschool children 2 years after the earthquake. Method Participants were children who were exposed to the 2011 disaster at preschool age (affected area, n = 178; unaffected area, n = 82). Data were collected from September 2012 to June 2013 (around 2 years after the earthquake), thus participants were aged 5 to 8 years when assessed. Severe trauma exposures related to the earthquake (e.g., loss of family members) were assessed by interview, and trauma events in the physical environment related to the earthquake (e.g. housing damage), and other trauma exposure before the earthquake, were assessed by questionnaire. Behavior problems were assessed by caregivers using the Child Behavior Checklist (CBCL), which encompasses internalizing, externalizing, and total problems. Children who exceeded clinical cut-off of the CBCL were defined as having clinically significant behavior problems. Results Rates of internalizing, externalizing, and total problems in the affected area were 27.7%, 21.2%, and 25.9%, respectively. The rate ratio suggests that children who lost distant relatives or friends were 2.36 times more likely to have internalizing behavior problems (47.6% vs. 20.2%, 95% CI: 1.10–5.07). Other trauma experiences before the earthquake also showed significant positive association with internalizing, externalizing, and total behavior problems, which were not observed in the unaffected area. Conclusions One in four children still had behavior problems even 2 years after the Great East Japan Earthquake. Children who had other trauma experiences before the earthquake were more likely to have behavior problems. These data will be

  6. Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

    Directory of Open Access Journals (Sweden)

    Linde C. M. van Dongen

    2017-12-01

    Full Text Available KBG syndrome is a neurodevelopmental disorder (NDD caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD/ intellectual disability (ID and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18 were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17, by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome.

  7. Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

    Science.gov (United States)

    van Dongen, Linde C. M.; Wingbermühle, Ellen; Oomens, Wouter; Bos-Roubos, Anja G.; Ockeloen, Charlotte W.; Kleefstra, Tjitske; Egger, Jos I. M.

    2017-01-01

    KBG syndrome is a neurodevelopmental disorder (NDD) caused by loss-of-function of the ANKRD11 gene. The core phenotype comprises developmental delay (DD)/ intellectual disability (ID) and several specific facial dysmorphisms. In addition, both ADHD- and ASD-related symptoms have been mentioned. For the correct understanding of these developmental and behavioral characteristics however, it is of great importance to apply objective measures, which seldom has been done in patients with KBG syndrome. In this study, intelligence profiles of patients with KBG syndrome (n = 18) were compared with a control group comprising patients with NDD caused by various other genetic defects (n = 17), by means of the Wechsler scales. These scales were also used to measure speed of information processing, working memory, verbal comprehension and perceptual reasoning. No significant differences were found in the global level of intelligence of patients with KBG syndrome as compared to the patient genetic control group. The same was true for Wechsler subtest results. Hence, behavioral problems associated with KBG syndrome cannot directly be related to or explained by a specific intelligence profile. Instead, specific assessment of neurocognitive functions should be performed to clarify the putative behavioral problems as observed in this syndrome. PMID:29311865

  8. Role of sleep duration and sleep-related problems in the metabolic syndrome among children and adolescents

    OpenAIRE

    Pulido-Arjona, Leonardo; Correa-Bautista, Jorge Enrique; Agostinis-Sobrinho, Cesar; Mota, Jorge; Santos, Rute; Correa-Rodríguez, María; Garcia-Hermoso, Antonio; Ramírez-Vélez, Robinson

    2018-01-01

    Background There is increasing recognition that sleep is a risk factor for metabolic syndrome (MetS). The aim of the present study was to analyze the relationship between self-reported sleep duration, sleep-related problems and the presence of MetS in children and adolescents from Bogotá, D.C., Colombia. Methods This is a cross-sectional analysis from the FUPRECOL study (2014–15). Participants included 2779 (54.2% girls) youth from Bogota (Colombia). MetS was defined as the presence of ≥3 of ...

  9. Concerned significant others of people with gambling problems in Finland: a cross-sectional population study.

    Science.gov (United States)

    Salonen, Anne H; Castrén, Sari; Alho, Hannu; Lahti, Tuuli

    2014-04-24

    Problem gambling not only impacts those directly involved, but also the concerned significant others (CSOs) of problem gamblers. The aims of this study were to investigate the proportion of male and female CSOs at the population level; to investigate who the CSOs were concerned about; and to investigate sociodemographic factors, gender differences, gambling behaviour, and health and well-being among CSOs and non-CSOs. The data (n = 4484) were based on a cross-sectional population study. Structured telephone interviews were conducted in 2011-2012. The data were weighted based on age, gender and residency. The respondents were defined as CSOs if they reported that at least one of their significant others (father, mother, sister/brother, grandparent, spouse, own child/children, close friend) had had gambling problems. Statistical significance was determined by chi-squared and Fisher's exact tests, and logistic regression analysis. Altogether, 19.3% of the respondents were identified as CSOs. Most commonly, the problem gambler was a close friend (12.4%) of the CSO. The percentage of close friends having a gambling problem was larger among male CSOs (14.4%) compared with female CSOs (10.3%; p ≤ 0.001), while the percentage of partners with gambling problem was larger among females (2.6%) than among males (0.8%; p ≤ 0.001). In the best fitting model, the odds ratio (95% CI) of being a male CSO was 2.03 (1.24-3.31) for past-year gambling problems, 1.46 (1.08-1.97) for loneliness and 1.78 (1.38-2.29) for risky alcohol consumption. The odds ratio (95% CI) of being a female CSO was 1.51 (1.09-2.08) for past-year gambling involvement, 3.05 (1.18-7.90) for past-year gambling problems, 2.21 (1.24-3.93) for mental health problems, 1.39 (1.03-1.89) for loneliness and 1.97 (1.43-2.71) for daily smoking. CSOs of problem gamblers often experience cumulating problems such as their own risky gambling behaviour, health problems and other addictive disorders. The

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

    Science.gov (United States)

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

    2016-07-01

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

  11. Significant association between polymorphism of the erythropoietin gene promoter and myelodysplastic syndrome

    Directory of Open Access Journals (Sweden)

    O'Brien Susan

    2010-11-01

    Full Text Available Abstract Background Myelodysplastic syndrome (MDS may be induced by certain mutagenic environmental or chemotherapeutic toxins; however, the role of susceptibility genes remains unclear. The G/G genotype of the single-nucleotide polymorphism (SNP rs1617640 in the erythropoietin (EPO promoter has been shown to be associated with decreased EPO expression. We examined the association of rs1617640 genotype with MDS. Methods We genotyped the EPO rS1617640 SNP in 189 patients with MDS, 257 with acute myeloid leukemia (AML, 106 with acute lymphoblastic leukemia, 97 with chronic lymphocytic leukemia, 353 with chronic myeloid leukemia, and 95 healthy controls. Results The G/G genotype was significantly more common in MDS patients (47/187; 25.1% than in controls (6/95; 6.3% or in patients with other leukemias (101/813; 12.4% (all P P = 0.03. Time to neutrophils recovery after therapy was significantly longer in MDS patients with the G/G genotype (P = 0.02. Conclusions These findings suggest a strong association between the rs1617640 G/G genotype and MDS. Further studies are warranted to investigate the utility of screening for this marker in individuals exposed to environmental toxins or chemotherapy.

  12. Clinical significance of changes of serum leptin and insulin levels in patients with polycystic ovary syndrome

    International Nuclear Information System (INIS)

    Chen Zhaojun; Zhang Lahong; Gao Ying; Ren Xiaohua

    2007-01-01

    Objective: To explore the relationship between the serum leptin, insulin levels and development of polycystic ovary syndrome (PCOS). Methods: Serum leptin and insulin levels (with RIA) were determined in 34 patients with PCOS and 30 controls. Results: The serum leptin and insulin levels in the 34 PCOS patients were significantly higher than those in controls (P<0. 01), and those in obese patients (n=22) were significantly higher than those in non-obese ones (n=12) too(P<0.01). Conclusion: Changes of serum leptin and insulin levels were closely related to the development of PCOS and leptin might be used as a diagnostic indicator for PCOS. (authors)

  13. Yellow nail syndrome

    Directory of Open Access Journals (Sweden)

    Dixit Ramakant

    2007-01-01

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

  14. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention.

    Science.gov (United States)

    Jacola, Lisa M; Hickey, Francis; Howe, Steven R; Esbensen, Anna; Shear, Paula K

    2014-01-01

    Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2 nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4 th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living ( Adj R 2 = 0.30) , Leadership ( Adj R 2 = 0.30) Functional Communication ( Adj R 2 = 0.28, Adaptability ( Adj R 2 = 0.29), and Social Skills ( Adj R 2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Our results confirm and extend previous findings by describing relationships between specific behavior problems and targeted areas of

  15. Behavior and adaptive functioning in adolescents with Down syndrome: specifying targets for intervention

    Science.gov (United States)

    Jacola, Lisa M.; Hickey, Francis; Howe, Steven R.; Esbensen, Anna; Shear, Paula K.

    2016-01-01

    Background Research suggests that adolescents with Down syndrome experience increased behavior problems as compared to age matched peers; however, few studies have examined how these problems relate to adaptive functioning. The primary aim of this study was to characterize behavior in a sample of adolescents with Down syndrome using two widely-used caregiver reports: the Behavioral Assessment System for Children, 2nd Edition (BASC-2) and Child Behavioral Checklist (CBCL). The clinical utility of the BASC-2 as a measure of behavior and adaptive functioning in adolescents with Down syndrome was also examined. Methods Fifty-two adolescents with Down syndrome between the ages of 12 and 18 (24 males) completed the Peabody Picture Vocabulary Test, 4th Edition (PPVT-IV) as an estimate of cognitive ability. Caregivers completed the BASC-2 and the CBCL for each participant. Results A significant proportion of the sample was reported to demonstrate behavior problems, particularly related to attention and social participation. The profile of adaptive function was variable, with caregivers most frequently rating impairment in skills related to activities of daily living and functional communication. Caregiver ratings did not differ by gender and were not related to age or estimated cognitive ability. Caregiver ratings of attention problems on the BASC-2 accounted for a significant proportion of variance in Activities of Daily Living (Adj R2 = 0.30), Leadership (Adj R2 = 0.30) Functional Communication (Adj R2 = 0.28, Adaptability (Adj R2 = 0.29), and Social Skills (Adj R2 = 0.17). Higher frequencies of symptoms related to social withdrawal added incremental predictive validity for Functional Communication, Leadership, and Social Skills. Convergent validity between the CBCL and BASC-2 was poor when compared with expectations based on the normative sample. Conclusion Our results confirm and extend previous findings by describing relationships between specific behavior problems

  16. A non-traditional model of the metabolic syndrome: the adaptive significance of insulin resistance in fasting-adapted seals

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    Dorian S Houser

    2013-11-01

    Full Text Available Insulin resistance in modern society is perceived as a pathological consequence of excess energy consumption and reduced physical activity. Its presence in relation to the development of cardiovascular risk factors has been termed the metabolic syndrome, which produces increased mortality and morbidity and which is rapidly increasing in human populations. Ironically, insulin resistance likely evolved to assist animals during food shortages by increasing the availability of endogenous lipid for catabolism while protecting protein from use in gluconeogenesis and eventual oxidation. Some species that incorporate fasting as a predictable component of their life history demonstrate physiological traits similar to the metabolic syndrome during prolonged fasts. One such species is the northern elephant seal (Mirounga angustirostris, which fasts from food and water for periods of up to three months. During this time, ~90% of the seals metabolic demands are met through fat oxidation and circulating non-esterified fatty acids are high (0.7-3.2 mM. All life history stages of elephant seal studied to date demonstrate insulin resistance and fasting hyperglycemia as well as variations in hormones and adipocytokines that reflect the metabolic syndrome to some degree. Elephant seals demonstrate some intriguing adaptations with the potential for medical advancement; for example, ketosis is negligible despite significant and prolonged fatty acid oxidation and investigation of this feature might provide insight into the treatment of diabetic ketoacidosis. The parallels to the metabolic syndrome are likely reflected to varying degrees in other marine mammals, most of which evolved on diets high in lipid and protein content but essentially devoid of carbohydrate. Utilization of these natural models of insulin resistance may further our understanding of the pathophysiology of the metabolic syndrome in humans and better assist the development of preventative measures

  17. A non-traditional model of the metabolic syndrome: the adaptive significance of insulin resistance in fasting-adapted seals.

    Science.gov (United States)

    Houser, Dorian S; Champagne, Cory D; Crocker, Daniel E

    2013-11-01

    Insulin resistance in modern society is perceived as a pathological consequence of excess energy consumption and reduced physical activity. Its presence in relation to the development of cardiovascular risk factors has been termed the metabolic syndrome, which produces increased mortality and morbidity and which is rapidly increasing in human populations. Ironically, insulin resistance likely evolved to assist animals during food shortages by increasing the availability of endogenous lipid for catabolism while protecting protein from use in gluconeogenesis and eventual oxidation. Some species that incorporate fasting as a predictable component of their life history demonstrate physiological traits similar to the metabolic syndrome during prolonged fasts. One such species is the northern elephant seal (Mirounga angustirostris), which fasts from food and water for periods of up to 4 months. During this time, ∼90% of the seals metabolic demands are met through fat oxidation and circulating non-esterified fatty acids are high (0.7-3.2 mM). All life history stages of elephant seal studied to date demonstrate insulin resistance and fasting hyperglycemia as well as variations in hormones and adipocytokines that reflect the metabolic syndrome to some degree. Elephant seals demonstrate some intriguing adaptations with the potential for medical advancement; for example, ketosis is negligible despite significant and prolonged fatty acid oxidation and investigation of this feature might provide insight into the treatment of diabetic ketoacidosis. The parallels to the metabolic syndrome are likely reflected to varying degrees in other marine mammals, most of which evolved on diets high in lipid and protein content but essentially devoid of carbohydrate. Utilization of these natural models of insulin resistance may further our understanding of the pathophysiology of the metabolic syndrome in humans and better assist the development of preventative measures and therapies.

  18. What Are the Symptoms of Turner Syndrome?

    Science.gov (United States)

    ... Pinterest Email Print What are the symptoms of Turner syndrome? Turner syndrome causes a variety of symptoms in girls and ... some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women ...

  19. Significance of collateral vessels on the prediction of superior vena cava syndrome on CT

    International Nuclear Information System (INIS)

    Kim, Hyun Sook; Kim, Hyung Jin; Lee, Hyeng Gon; Ahn, In Oak; Chung, Sung Hoon

    1993-01-01

    Although visible collateral vessels on computed tomography (CT) has been considered as an important finding in superior vena cava (SVC) syndrome, there is no systematical analysis concerning correlation between the CT evidence of collateral vessels and clinical evidence of SVC syndrome. The purpose of this study is to evaluate how accurately we predict the clinical presence of SVC syndrome by the collateral vessels in patients with apparent SVC obstruction in CT. Forty seven patients having a CT evidence of obstruction or compression of SVC and/or its major tributaries were included in this study. Lung cancer was the most common underlying disease (n=40). The enhanced CT scans were obtained through either arm vein using a combined bolus and drip-infusion technique. Analyzing the CT scans, we particularly paid attention to the site and pattern of venous compromise, presence of collateral vessels, and if present, their location, without knowing whether symptoms and sign were present or nor, and then compared them with clinical data by a thorough review of charts, To verify the frequency of visible collateral vessels in normal subjects, we also evaluated the CT scans of 50 patients without mediastinal disease and clinical SVC syndrome as a control group. On CT, collateral vessels were found in 24 patients, among whom three patient had a single collateral and 21 patients had two or more collateral channels. There were two false positive cases, in which clinically overt SVC syndrome appeared 10 days and three months after CT examination respectively, and one false negative case. The presence of collateral vessels on CT, respectively, and one false negative case. The presence of collateral vessels on CT, regardless of the number and location of collateral vessels and pattern of venous obstruction, was a good clue for predicting the presence of clinical SVC syndrome with the sensitivity and the specificity of 95.7% and 91.7%, respectively. In control group, collateral

  20. Novel perspectives on diagnosis and clinical significance of the post-thrombotic syndrome in children.

    Science.gov (United States)

    Jones, Sophie; Newall, Fiona; Monagle, Paul

    2016-10-01

    Given the increase in venous thromboembolic events (VTE) in children, the incidence, diagnosis and management of post thrombotic syndrome (PTS) in children is of increasing interest. Current challenges facing clinicians caring for children with VTE is the limited evidence of the long-term outcomes for this cohort; specifically the significance and potential functional impairment associated with PTS. This paper reviews the current evidence to elucidate the risk factors for PTS in children, methods for diagnosis and management of PTS in children (aged less than 18 years). Medline, Cinahl and PsycINFO database searches were undertaken using key search terms. Priority areas in need of further research are highlighted. Expert commentary: The two paediatric PTS assessment tools currently in use have been acknowledged to overcall the incidence of mild PTS in children. A PTS tool's ability to distinguish between clinically significant PTS and mild PTS is crucial. Variation in how PTS has been reported in children across the literature suggests that the real incidence of moderate and /or clinically significant PTS in children is unknown. Furthermore, evidence is lacking about the functional impairment experienced by children with clinically significant PTS and what this means for their long-term health.

  1. Teachers` and medics' burnout syndrome

    OpenAIRE

    VOPELKOVÁ, Kateřina

    2010-01-01

    The bachelor thesis offers an overview of information related to problems of stress and burnout syndrome. I deal mainly with causes, symptoms, risk factors, prevention and getting stress and burnout syndrome under control. The aim of my bachelor thesis is to find out symptoms of burnout syndrome at teachers and health service employees. I supposed different manifestations of the burnout syndrome due to different demands put on these people in their professions. Another aim was to establish th...

  2. Emerging health problems among women: Inactivity, obesity, and metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Yi-Ju Tsai

    2014-02-01

    Full Text Available The increase in obesity and metabolic syndrome has been documented worldwide. However, few studies have investigated the risk of inactivity, obesity, and metabolic syndrome specifically in women. Hormone balance plays a crucial role in regulating metabolism and helps to maintain optimal health. It is likely that the sex difference in obesity may be due to the variation in hormone concentration throughout a woman's life, which predisposes them to weight gain. This paper reviews previous literature and discusses factors that influence the risk of adiposity-related health consequences among women for three critical biological transitions throughout a woman's life: puberty, menopause, and pregnancy. To improve quality of life and metabolic health for women, interventions are needed to target women at different transition stages and provide tailored health education programs. Interventions should raise awareness of physical inactivity, obesity, and metabolic syndrome, and promote healthy behavioral change in women.

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

    OpenAIRE

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

    2014-01-01

    Polycystic ovary syndrome is characterized by ovulatory dysfunction, androgen excess and polycystic ovaries and is associated with hypertension, diabetes, metabolic syndrome and cardiovascular events. Oral contraceptives constitute first-line treatment, particularly when symptomatic hyperandrogenism is present. However, these drugs are associated with cardiovascular events and hypersensitivity reactions that pose problem in differential diagnosis and therapy. We present a 14 year-old female wi...

  4. Epidemiological predictors of metabolic syndrome in urban West Bengal, India

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    Sasthi Narayan Chakraborty

    2015-01-01

    Full Text Available Introduction: Metabolic syndrome is one of the emerging health problems of the world. Its prevalence is high in urban areas. Though pathogenesis is complex, but the interaction of obesity, sedentary lifestyle, dietary, and genetic factors are known as contributing factors. Community-based studies were very few to find out the prevalence or predictors of the syndrome. Objectives: To ascertain the prevalence and epidemiological predictors of metabolic syndrome. Materials and Methods: A total of 690 study subjects were chosen by 30 clusters random sampling method from 43 wards of Durgapur city. Data were analyzed in SPSS version 20 software and binary logistic regression was done to find out statistical significance of the predictors. Results: Among 32.75% of the study population was diagnosed as metabolic syndrome according to National Cholesterol Education Program Adult Treatment Panel III definition with a modification for Asia Pacific cut-off of waist circumference. Odds were more among females (2.43, upper social class (14.89, sedentary lifestyle (17.00, and positive family history. Conclusion: The overall prevalence of metabolic syndrome was high in urban areas of Durgapur. Increased age, female gender, higher social status, sedentary lifestyle, positive family history, and higher education were the statistically significant predictors of metabolic syndrome.

  5. Localization of Usher syndrome type II to chromosome 1q.

    Science.gov (United States)

    Kimberling, W J; Weston, M D; Möller, C; Davenport, S L; Shugart, Y Y; Priluck, I A; Martini, A; Milani, M; Smith, R J

    1990-06-01

    Usher syndrome is characterized by congenital hearing loss, progressive visual impairment due to retinitis pigmentosa, and variable vestibular problems. The two subtypes of Usher syndrome, types I and II, can be distinguished by the degree of hearing loss and by the presence or absence of vestibular dysfunction. Type I is characterized by a profound hearing loss and totally absent vestibular responses, while type II has a milder hearing loss and normal vestibular function. Fifty-five members of eight type II Usher syndrome families were typed for three DNA markers in the distal region of chromosome 1q: D1S65 (pEKH7.4), REN (pHRnES1.9), and D1S81 (pTHH33). Statistically significant linkage was observed for Usher syndrome type II with a maximum multipoint lod score of 6.37 at the position of the marker THH33, thus localizing the Usher type II (USH2) gene to 1q. Nine families with type I Usher syndrome failed to show linkage to the same three markers. The statistical test for heterogeneity of linkage between Usher syndrome types I and II was highly significant, thus demonstrating that they are due to mutations at different genetic loci.

  6. Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

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    Kitty-Rose Foley

    Full Text Available Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. The aim of this study was to compare changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood in two different Australian cohorts.Emotional and behavioural problems were measured over three time points using the Developmental Behaviour Checklist (DBC for those with Down syndrome (n = 323 at wave one and compared to those with intellectual disability of another cause (n = 466 at wave one. Outcome scores were modelled using random effects regression as linear functions of age, Down syndrome status, ability to speak and gender.DBC scores of those with Down syndrome were lower than those of people without Down syndrome indicating fewer behavioural problems on all scales except communication disturbance. For both groups disruptive, communication disturbance, anxiety and self-absorbed DBC subscales all declined on average over time. There were two important differences between changes in behaviours for these two cohorts. Depressive symptoms did not significantly decline for those with Down syndrome compared to those without Down syndrome. The trajectory of the social relating behaviours subscale differed between these two cohorts, where those with Down syndrome remained relatively steady and, for those with intellectual disability from another cause, the behaviours increased over time.These results have implications for needed supports and opportunities for engagement in society to buffer against these emotional and behavioural challenges.

  7. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome.

    Science.gov (United States)

    Mangatt, Meghana; Wong, Kingsley; Anderson, Barbara; Epstein, Amy; Hodgetts, Stuart; Leonard, Helen; Downs, Jenny

    2016-04-14

    Initially described as an early onset seizure variant of Rett syndrome, the CDKL5 disorder is now considered as an independent entity. However, little is currently known about the full spectrum of comorbidities that affect these patients and available literature is limited to small case series. This study aimed to use a large international sample to examine the prevalence in this disorder of comorbidities of epilepsy, gastrointestinal problems including feeding difficulties, sleep and respiratory problems and scoliosis and their relationships with age and genotype. Prevalence and onset were also compared with those occurring in Rett syndrome. Data for the CDKL5 disorder and Rett syndrome were sourced from the International CDKL5 Disorder Database (ICDD), InterRett and the Australian Rett syndrome Database (ARSD). Logistic regression (multivariate and univariate) was used to analyse the relationships between age group, mutation type and the prevalence of various comorbidities. Binary longitudinal data from the ARSD and the equivalent cross-sectional data from ICDD were examined using generalized linear models with generalized estimating equations. The Kaplan-Meier method was used to estimate the failure function for the two disorders and the log-rank test was used to compare the two functions. The likelihood of experiencing epilepsy, GI problems, respiratory problems, and scoliosis in the CDKL5 disorder increased with age and males were more vulnerable to respiratory and sleep problems than females. We did not identify any statistically significant relationships between mutation group and prevalence of comorbidities. Epilepsy, GI problems and sleep abnormalities were more common in the CDKL5 disorder than in Rett syndrome whilst scoliosis and respiratory problems were less prevalent. This study captured a much clearer picture of the CDKL5 disorder than previously possible using the largest sample available to date. There were differences in the presentation of

  8. Apert syndrome (acrocephalosyndactyly

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    Milovanović J.

    2014-01-01

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

  9. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome

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    Buchanan DD

    2014-10-01

    Full Text Available Daniel D Buchanan,1,2 Christophe Rosty,1,3,4 Mark Clendenning,1 Amanda B Spurdle,5 Aung Ko Win2 1Oncogenomics Group, Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Parkville, VIC, Australia; 2Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia; 3Envoi Specialist Pathologists, Herston, QLD, Australia; 4School of Medicine, University of Queensland, Herston, QLD, Australia; 5Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Herston, QLD, AustraliaAbstract: Carriers of a germline mutation in one of the DNA mismatch repair (MMR genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome. MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR deficiency is used to identify individuals most likely to carry an MMR gene mutation. However, MMR deficiency can also result from somatic inactivation, most commonly methylation of the MLH1 gene promoter. As tumor MMR testing of all incident colorectal and endometrial cancers (universal screening is becoming increasingly adopted, a growing clinical problem is emerging for individuals who have tumors that show MMR deficiency who are subsequently found not to carry an MMR gene mutation after genetic testing using the current diagnostic approaches (Sanger sequencing and multiplex ligation-dependent probe amplification and who also show no evidence of MLH1 methylation. The inability to determine the underlying cause of tumor MMR deficiency in these "Lynch-like" or "suspected Lynch syndrome" cases has significant implications on the clinical management of these individuals and their relatives. When the

  10. Acercamiento a una problemática trascendente: el síndrome metabólico Approach to a transcendental problem: the metabolic syndrome

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    José Luis Valenciaga Rodríguez

    2005-04-01

    Full Text Available La presencia del síndrome metabólico (SM se relaciona con un incremento significativo de riesgo de diabetes, enfermedad coronaria y cerebrovascular, por lo que se exponen y analizan algunos aspectos fundamentales para su comprensión. Se responden interrogantes como: ¿qué es el síndrome metabólico y la insulinorresistencia?, ¿cuáles son sus causas?, ¿cuáles son las señales y/o signos clínicos de resistencia a la insulina que se pueden emplear para la detección por el Médico de Familia de casos con SM o en riesgo de padecerlo?, ¿cuáles son las clasificaciones que se han empleado para caracterizarlo?, ¿cuáles son los principales estudios dirigidos a disminuir el riesgo relativo de padecer diabetes mellitus tipo II (DM2 y SM? Se realizan algunas reflexiones para el enfrentamiento de esta problemática en la APS.As the presence of the metabolic syndrome (MS is related to a significant increase of risk for diabetes, coronary artery disease and cerebrovascular disease, some fundamental aspects for its understanding are exposed and analyzed. Answers are given to questions such as: what is the MS and the insulin resistance?, which are their causes?, which are the clinical signals or signs of insulin resistance the family physician may use to detect cases with MS or at risk for suffering from it?, which are the classifications used to characterize it?, and which are the main studies directed to reduce the relative risk for suffering from type II diabetes mellitus and MS? Some reflections are made to face this problem at the PHC level.

  11. Motor performance in children with Noonan syndrome.

    Science.gov (United States)

    Croonen, Ellen A; Essink, Marlou; van der Burgt, Ineke; Draaisma, Jos M; Noordam, Cees; Nijhuis-van der Sanden, Maria W G

    2017-09-01

    Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen using valid norm-referenced tests. The study assessed motor performance in 19 children with Noonan syndrome (12 females, mean age 9 years 4 months, range 6 years 1 month to 11 years and 11 months, SDS 1 year and 11 months). More than 60% of the parents of the children reported pain, decreased muscle strength, reduced endurance, and/or clumsiness in daily functioning. The mean standard scores on the Visual Motor Integration (VMI) test and Movement Assessment Battery for Children 2, Dutch version (MABC-2-NL) items differed significantly from the reference scores. Grip strength, muscle force, and 6 min Walking Test (6 MWT) walking distance were significantly lower, and the presence of generalized hypermobility was significantly higher. All MABC-2-NL scores (except manual dexterity) correlated significantly with almost all muscle strength tests, VMI total score, and VMI visual perception score. The 6 MWT was only significantly correlated to grip strength. This is the first study that confirms that motor performance, strength, and endurance are significantly impaired in children with Noonan syndrome. Decreased functional motor performance seems to be related to decreased visual perception and reduced muscle strength. Research on causal relationships and the effectiveness of interventions is needed. Physical and/or occupational therapy guidance should be considered to enhance participation in daily life. © 2017 Wiley Periodicals, Inc.

  12. Behavioural Flexibility in Individuals with Angelman Syndrome, Down Syndrome, Non-Specific Intellectual Disability and Autism Spectrum Disorder

    Science.gov (United States)

    Didden, R.; Sigafoos, J.; Green, V. A.; Korzilius, H.; Mouws, C.; Lancioni, G. E.; O'Reilly, M. F.; Curfs, L. M. G.

    2008-01-01

    Background: Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people. Method: Behavioural flexibility scores were assessed in 129 individuals with Angelman syndrome using 11 items from…

  13. Self-Reported Speech Problems in Adolescents and Young Adults with 22q11.2 Deletion Syndrome: A Cross-Sectional Cohort Study

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    Nicole E Spruijt

    2014-09-01

    Full Text Available BackgroundSpeech problems are a common clinical feature of the 22q11.2 deletion syndrome. The objectives of this study were to inventory the speech history and current self-reported speech rating of adolescents and young adults, and examine the possible variables influencing the current speech ratings, including cleft palate, surgery, speech and language therapy, intelligence quotient, and age at assessment.MethodsIn this cross-sectional cohort study, 50 adolescents and young adults with the 22q11.2 deletion syndrome (ages, 12-26 years, 67% female filled out questionnaires. A neuropsychologist administered an age-appropriate intelligence quotient test. The demographics, histories, and intelligence of patients with normal speech (speech rating=1 were compared to those of patients with different speech (speech rating>1.ResultsOf the 50 patients, a minority (26% had a cleft palate, nearly half (46% underwent a pharyngoplasty, and all (100% had speech and language therapy. Poorer speech ratings were correlated with more years of speech and language therapy (Spearman's correlation= 0.418, P=0.004; 95% confidence interval, 0.145-0.632. Only 34% had normal speech ratings. The groups with normal and different speech were not significantly different with respect to the demographic variables; a history of cleft palate, surgery, or speech and language therapy; and the intelligence quotient.ConclusionsAll adolescents and young adults with the 22q11.2 deletion syndrome had undergone speech and language therapy, and nearly half of them underwent pharyngoplasty. Only 34% attained normal speech ratings. Those with poorer speech ratings had speech and language therapy for more years.

  14. Williams-Beuren's Syndrome: A Case Report.

    Science.gov (United States)

    Zamani, Hassan; Babazadeh, Kazem; Fattahi, Saeid; Mokhtari-Esbuie, Farzad

    2012-01-01

    Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD), skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6) in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH) was performed and the result was: 46.XX, ish del (7q11.2) (ELN X1) (7q22 X2) ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  15. Williams-Beuren's Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Hassan Zamani

    2012-01-01

    Full Text Available Williams-Beuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. It is characterized by congenital heart defects (CHD, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. We present a case of Williams syndrome that presented to us with heart murmur and cognitive problem. A 5-year-old girl referred to pediatric cardiologist because of heart murmurs. She had a systolic murmur (2-3/6 in right upper sternal border with radiation to right cervical region. She also had a bulge forehead. Angiography showed mild supra valvular aortic stenosis and mild multiple peripheral pulmonary stenosis. Fluorescent in situ hybridization (FISH was performed and the result was: 46.XX, ish del (7q11.2 (ELN X1 (7q22 X2 ELN deletion compatible with Williams syndrome. Peripheral pulmonary artery stenosis is associated with Noonan syndrome, Alagille syndrome, Cutis laxa, Ehler-Danlos syndrome, and Silver-Russel syndrome. The patient had peripheral pulmonary artery stenosis, but no other signs of these syndromes were present, and also she had a supravalvular aortic stenosis which was not seen in other syndromes except Williams syndrome. Conclusion. According to primary symptoms, paraclinical and clinical finding such as dysmorphic facies, cognitive disorder and congenital heart defect, Williams syndrome was the first diagnosis. We suggest a more attention for evaluating heart murmur in childhood period, especially when the patient has abnormal facial features or mental problem.

  16. Obstructive sleep apnoea syndrome in children

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    Anna Włodarska

    2016-09-01

    Full Text Available Sleep-related breathing disorders in children are a clinical problem which is more and more often diagnosed by doctors nowadays. They can be the basis for diagnosing obstructive sleep apnoea syndrome that causes a number of complications: lowering the quality of life, behavioural problems, complications involving cardiovascular system. The incidence of obstructive sleep apnoea syndrome in the paediatric population is estimated to be at the level of 2%. The symptoms of obstructive sleep apnoea syndrome can be divided into daytime and night ones. Night symptoms in children include: snoring, apnoea, breathing with open mouth (both during the day and at night, dry tongue and mouth during sleep, agitated sleep in unnatural positions. Among daytime symptoms of obstructive sleep apnoea syndrome there are: irritability, aggressiveness, hyperactivity, attention deficit disorder, delayed development and growth pattern (mainly failure to thrive, learning problems, morning headaches. Parents often do not connect the night and daytime symptoms with the possible development of obstructive sleep apnoea syndrome in their children. The main predisposing factor of obstructive sleep apnoea syndrome in children is adenotonsillar hypertrophy. Effective and in most cases preferred treatment for the management of obstructive sleep apnoea syndrome in children is adenotonsillectomy. Polysomnography and polygraphy are diagnostic tools helpful in the study of sleep-related disorders. The objective of this study was to systematise the knowledge on the epidemiology, aetiology, clinical image and prevention of obstructive sleep apnoea syndrome in children.

  17. Neonatal Marfan syndrome: Report of two cases.

    Science.gov (United States)

    Jurko, Tomas; Jurko, Alexander; Minarik, Milan; Micieta, Vladimir; Tonhajzerova, Ingrid; Kolarovszka, Hana; Zibolen, Mirko

    2017-07-01

    Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnosed by ultrasonography. Genetic DNA analysis in the second case confirmed the mutations in the fibrillin-1 gene located on chromosome 15q21 which is responsible for the development of Marfan syndrome. The boy died at six weeks of age with signs of rapidly progressive left ventricular failure associated with pneumonia. The second infant was having only mild signs of congestive heart failure and has been treated with beta blockers. At the age of 4 years her symptoms of congestive heart failure had worsened due to progression of mitral and tricuspid insufficiency and development of significant cardiomegaly. Mitral and tricuspid valvuloplasy had to be done at that time. Early diagnosis of Marfan syndrome in the newborn period can allow treatment in the early stages of cardiovascular abnormalities and may improve the prognosis. It also helps to explain to the family the serious health problem of their child.

  18. Significance of phase-display technique for diagnosis of WPW-Syndrome

    International Nuclear Information System (INIS)

    Mester, J.; Mate, E.; Marosi, G.; Csernay, L.

    1985-01-01

    28 patients with WPW-syndrome were investigated by nuclear cardiology. Phase-display techniques were capable of visualizing and localizing ventricular preexcitations. The prematurely contraction ventricle was diagnosed in 81% of the cases concordant to the results of 12-channel ECG-technique. The control group consisted of 13 LGL-patients and revealed 3 false positives resulting in a specificity of 77%. The results were checked with respect to reproducibility. Additional projections increased the sensitivity of the method. (orig.) [de

  19. BURNOUT SYNDROM AMONG PUBLIC AMBULANCE STAFF.

    Science.gov (United States)

    Iorga, Magdalena; Dascalu, Neonila; Soponaru, Camelia; Ioan, Beatrice

    2015-01-01

    Healthcare professionals are frequently confronted with urgent situations and a high-risk human intervention. They are usually exposed to what is called burnout syndrome. To identify the effects of burnout syndrome on the professional conduct and attitudes of doctors and nurses who work in the Romanian public ambulance service. Secondary, the causal relationships between burnout and various socio-demographic variables were analyzed. The 20-item Toronto Alexithymia Scale (TAS- 20), Maslach Burnout Inventory and Job Satisfaction Questionnaire were administered to 122 ambulance doctors, nurses and drivers (62 females and 60 males). The degree of job satisfaction is the most important indicator of burnout syndrome. Significant differences were found between low and high alexithymic subjects. Women are more susceptible to experience higher levels of burnout than men. The level of burnout is influenced by the combined effect of job satisfaction and alexithymia. Burnout syndrome is a common problem among people working in the emergency medical system. The causes of job-related burnout have to be identified in order to apply an appropriate level of burnout intervention program and to increase the efficiency of coping strategies.

  20. COMPLEX REGIONAL PAIN SYNDROME – CLINIC, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2014-07-01

    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  1. COMPLEX REGIONAL PAIN SYNDROME – CLINIC, DIAGNOSTICS, TREATMENT

    Directory of Open Access Journals (Sweden)

    N. A. Shostak

    2013-01-01

    Full Text Available The problem of pain today remains one of the fundamental issues of medical care. It is known that the pain is the leading cause of treatmentto the doctor. Among pain syndromes, a special place belongs to the complex regional pain syndromes. They are distinguished by the multidisciplinary problem, the presence of explicit nature of the pain, difficulty of diagnosis and nature of the treatment. The article presentsmodern data on the diagnosis and treatment of the complex regional pain syndromes.

  2. Young People with Intellectual Disability Transitioning to Adulthood: Do Behaviour Trajectories Differ in Those with and without Down Syndrome?

    Science.gov (United States)

    Foley, Kitty-Rose; Taffe, John; Bourke, Jenny; Einfeld, Stewart L.; Tonge, Bruce J.; Trollor, Julian; Leonard, Helen

    2016-01-01

    Background Young people with intellectual disability exhibit substantial and persistent problem behaviours compared with their non-disabled peers. The aim of this study was to compare changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood in two different Australian cohorts. Methods Emotional and behavioural problems were measured over three time points using the Developmental Behaviour Checklist (DBC) for those with Down syndrome (n = 323 at wave one) and compared to those with intellectual disability of another cause (n = 466 at wave one). Outcome scores were modelled using random effects regression as linear functions of age, Down syndrome status, ability to speak and gender. Results DBC scores of those with Down syndrome were lower than those of people without Down syndrome indicating fewer behavioural problems on all scales except communication disturbance. For both groups disruptive, communication disturbance, anxiety and self-absorbed DBC subscales all declined on average over time. There were two important differences between changes in behaviours for these two cohorts. Depressive symptoms did not significantly decline for those with Down syndrome compared to those without Down syndrome. The trajectory of the social relating behaviours subscale differed between these two cohorts, where those with Down syndrome remained relatively steady and, for those with intellectual disability from another cause, the behaviours increased over time. Conclusions These results have implications for needed supports and opportunities for engagement in society to buffer against these emotional and behavioural challenges. PMID:27391326

  3. Assessment of anorexia readiness syndrome and body image in female dancers from Poland and Germany

    Directory of Open Access Journals (Sweden)

    Marta Ołpińska-Lischka

    2017-07-01

    Full Text Available Introduction:In recent years eating disorders have become an increasingly common problem, both in the media and in the scientific world, and the most dangerous form of these disorders is anorexia. Amongst patients with Anorexia Readiness Syndrome (ARS, there is an excessive tendency for physical activity and affected persons are increasingly developing into athletes. Therefore it is very important to control such behavior in physically active individuals. In psychology, a new phenomenon is investigated - An Anorexia Readiness Syndrome (ARS, which is considered a disease stage of full-blown anorexia. The problem of anorexia readiness syndrome and dancers body perception is poorly researched and its significance to the health of this group of people is extremely important. Aim: The purpose of this research was to find out how big is the difference of anorexia readiness syndrome and to find out the differences in the perception of their bodies in Polish and German dancers. Material and methods: Questionnaires on anorexia readiness syndrome (ARS and body image were anonymously filled in by the dancers. The study was carried out on 156 dancers from Poland and Germany. Results: The results showed that most of the dancers were diagnosed with moderate to severe anorexia readiness syndrome. Only in the group of older Polish dancers didn’t occur an anorexic syndrome. The statistically significant differences in self-evaluation of body parameters were assessed in the assessment of: nose, face, breasts and physical condition. Conclusions: The results to determine the severity of anorexia readiness syndrome are not very optimistic and only data from the literature confirms that the dance environment is specific to the high risk of eating disorders.

  4. Usher's Syndrome: A 1986 Update.

    Science.gov (United States)

    Baechle, Cathy L.; Rittenhouse, Robert K.

    The authors describe personal experiences with Usher's Syndrome, a condition involving visual impairment (due to Retinitis Pigmentosa) and deafness. Prevalence and onset of Usher's Syndrome are described along with characteristics of two different types. Problems connected with diagnosis are reviewed, including genetic aspects and the progressive…

  5. Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

    International Nuclear Information System (INIS)

    Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

    2012-01-01

    Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

  6. Descriptive epidemiology of metabolic syndrome among obese adolescent population.

    Science.gov (United States)

    Mahbuba, Sharmin; Mohsin, Fauzia; Rahat, Farhana; Nahar, Jebun; Begum, Tahmina; Nahar, Nazmun

    2018-05-01

    The study was done to assess the magnitude of problems of metabolic syndrome among obese adolescents. It was a cross-sectional study done from January 2013 to June 2014 in paediatric endocrine outpatient department in BIRDEM General Hospital, Dhaka, Bangladesh. Total 172 adolescents having exogenous obesity aged 10-18 years were included. Impaired fasting glucose (IFG), impaired glucose tolerance (IGT) and type 2 diabetes mellitus (DM) were defined as per WHO criteria.The adolescents having Body Mass Index (BMI) ≥95th centile were classified as obese.Waist circumference was measured at the level midway between the lower rib margin & the iliac crest, at the level of umbilicus with the person breathing out gently in centimeter. Hip circumference was measured at the maximum width over the buttocks at the level of the greater trochanters in centimeter. Among 172 obese adolescents, metabolic syndrome was found in 66 patients (38.4%). The commonest metabolic abnormality among those having metabolic syndrome was low HDL level (77.3%) followed by high triglyceride level(71.2%). Glucose intolerance (IFG and/or IGT) was found in 16.7%, Type 2 DM in 10.6%, systolic hypertension in 10.7% and diastolic hypertension in 12.1%. Triglyceride (p = 0.042) and Cholesterol level (p = 0.016) were significantly higher and HDL-cholesterol level (p = 0.000) was significantly lower among obese adolescents having metabolic syndrome. Less physical activity (p = 0.04) was significantly related to the development of metabolic syndrome. On logistic regression analysis male sex, family history of obesity and low HDL-cholesterol correlated to metabolic syndrome. The High rate of metabolic syndrome among obese adolescents is alarming. Copyright © 2018 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  7. Medial tibial stress syndrome.

    Science.gov (United States)

    Reshef, Noam; Guelich, David R

    2012-04-01

    MTSS is a benign, though painful, condition, and a common problem in the running athlete. It is prevalent among military personnel, runners, and dancers, showing an incidence of 4% to 35%. Common names for this problem include shin splints, soleus syndrome, tibial stress syndrome, and periostitis. The exact cause of this condition is unknown. Previous theories included an inflammatory response of the periosteum or periosteal traction reaction. More recent evidence suggests a painful stress reaction of bone. The most proven risk factors are hyperpronation of the foot, female sex, and history of previous MTSS. Patient evaluation is based on meticulous history taking and physical examination. Even though the diagnosis remains clinical, imaging studies, such as plain radiographs and bone scans are usually sufficient, although MRI is useful in borderline cases to rule out more significant pathology. Conservative treatment is almost always successful and includes several options; though none has proven more superior to rest. Prevention programs do not seem to influence the rate of MTSS, though shock-absorbing insoles have reduced MTSS rates in military personnel, and ESWT has shortened the duration of symptoms. Surgery is rarely indicated but has shown some promising results in patients who have not responded to all conservative options.

  8. Clinical significance of changes of plasma leptin and serum T, E2, FSH, LH, PRL levels in patients with polycystic ovary syndrome (PCOS)

    International Nuclear Information System (INIS)

    Yang Wen; Wang Ying

    2010-01-01

    Objective: To explore the clinical significance of changes of plasma leptin and serum T, E 2 , FSH, LH, PRL levels in patients with polycystic ovary syndrome(PCOS). Methods: Plasma leptin (with RIA), serum T, E 2 , FSH, LH, PRL (with ECLIA) levels were detected in 31 patients with polycystic ovary syndrome(PCOS) as well as in 35 controls. Results: The plasma leptin and serum T, LH, PRL levels in the patients with PCOS were significantly higher than those in controls (P 2 , FSH levels were not significantly different from those in controls (P>0.05). Plasma leptin levels were positively correlated with those of serum T, LH, PRL (r=0.5784, 0.5411, 0.6082, P<0.01). Conclusion: Development of PCOS was closely related to the plasma leptin and serum T, LH, PRL levels. (authors)

  9. [Prevention and treatment of the complications of polycystic ovarian syndrome--the significance of evidence-based, interdisciplinary management].

    Science.gov (United States)

    Gődény, Sándor; Csenteri, Orsolya Karola

    2015-12-13

    Polycystic ovary syndrome is the most common hormonal and metabolic disorder likely to affect women. The syndrome is often associated with obesity, hyperinsulinemia and adversely affects endocrine, metabolic, and cardiovascular health. The complex feature of the syndrome requires an interdisciplinary approach to treatment, where cooperation of paediatrician, internist, gynaecologist, endocrinologist, dermatologist, psychologist and oncologist is essential. The prevention and the treatment should be based on the best available evidence. This should include physical examination, laboratory tests for hormones, serum insulin, glucose, lipids, in addition patient's preferences should be considered, too. To maximise health gain of polycystic ovarian syndrome, adequate, effective, efficient and safe treatment is necessary. This article summarises the highest available evidence provided by meta-analyses and systematic reviews of the prevention of metabolic and cardiovascular complications of the syndrome, and discusses the relevant evidence published in the literature.

  10. Dental management of patient with Williams Syndrome - A case report.

    Science.gov (United States)

    Wong, Daniel; Ramachandra, Srinivas Sulugodu; Singh, Ashish Kumar

    2015-01-01

    Williams syndrome is a multisystemic rare genetic disorder caused by deletion of 26-28 genes in the long arm of chromosome 7. It is characterized by developmental and physical abnormalities including congenital cardiovascular abnormalities, mental retardation, neurological features, growth deficiency, genitourinary manifestations, gastrointestinal problems, musculoskeletal problems, unique behavioral characteristics, and dental problems. Dental abnormalities include malocclusion, hypodontia, malformed teeth, taurodontism, pulp stones, increased space between teeth, enamel hypoplasia, and high prevalence of dental caries. Authors report a 17-year-old female patient with underlying Williams syndrome. Oral features and problems seen in the patient are listed. Malocclusion and screwdriver shaped teeth were noticed. Generalized widening of the periodontal ligament space with vital teeth was seen. This finding has not been reported in cases of Williams syndrome earlier. Precautions taken during dental treatment in patients with Williams syndrome are also discussed.

  11. Clinical significance of determination of changes of serum TNF-α levels, peripheral B lymphocyte count and T lymphocyte subsets distribution pattern in patients with pregnancy induced hypertension syndrome

    International Nuclear Information System (INIS)

    Zhao Wenjuan

    2006-01-01

    Objective: To explore the changes of serum TNF-α levels, peripheral B cell count and T subsets distribution pattern in patients with pregnancy induced hypertension syndrome. Methods: Serum TNF-α levels (with RIA), peripheral B cell count as well as T subsets (with monoclonal technique) were examined in 34 patients with pregnancy induced hypertension syndrome and 35 controls. Results: The serum TNF-α levels and B lymphocytes count were significantly higher than those in controls (P 3 , CD 4 , CD4/CD8 ratio were significantly lower than those in controls (P<0.01). Conclusion: Pregnancy induced hY- pertension syndrome is a kind of autoimmune diseases with abnormal immunoregulation. (authors)

  12. Turner Syndrome: A Guide for Families

    Science.gov (United States)

    ... of direction) · Problems with nonverbal problem-solving (particularly math) · Clumsiness (coordination problems and poor hand/finger skills) · ... syndrome.” These include: high blood pressure; abnormal blood levels of lipids (such as cholesterol); non- insulin-dependent ...

  13. Potter syndrome

    Science.gov (United States)

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

  14. Acute Phase Hyperglycemia among Patients Hospitalized with Acute Coronary Syndrome: Prevalence and Prognostic Significance

    Directory of Open Access Journals (Sweden)

    Hameed Laftah Wanoose

    2011-03-01

    Full Text Available AbstractObjectives: Regardless of diabetes status, hyperglycemia on arrival for patients presenting with acute coronary syndrome, has been associated with adverse outcomes including death. The aim of this study is to look at the frequency and prognostic significance of acute phase hyperglycemia among patients attending the coronary care unit with acute coronary syndrome over the in-hospital admission days.Methods: The study included 287 consecutive patients in the Al- Faiha Hospital in Basrah (Southern Iraq during a one year period from December 2007 to November 2008. Patients were divided into two groups with respect to admission plasma glucose level regardless of their diabetes status (those with admission plasma glucose of <140 mg/dl (7.8 mmol/L and those equal to or more than that. Acute phase hyperglycemia was defined as a non-fasting glucose level equal to or above 140 mg/dl (7.8 mmol/L regardless of past history of diabetes.Results: Sixty one point seven percent (177 of patients were admitted with plasma glucose of ≥140 mg/dl (7.8 mmol/L. There were no differences were found between both groups regarding the mean age, qualification, and smoking status, but males were predominant in both groups. A family history of diabetes, and hypertension, were more frequent in patients with plasma glucose of ≥140 mg/dl (7.8 mmol/L. There were no differences between the two groups regarding past history of ischemic heart disease, stroke, lipid profile, troponin-I levels or type of acute coronary syndrome. Again heart failure was more common in the admission acute phase hyperglycemia group, but there was no difference regarding arrhythmia, stroke, or death. Using logistic regression with heart failure as the dependent variable we found that only the admission acute phase hyperglycemia (OR=2.1344, 95�0CI=1.0282-4.4307; p=0.0419 was independently associated with heart failure. While male gender, family history of diabetes mellitus, hypertension and

  15. Gorlin-Goltz syndrome:

    OpenAIRE

    Binić, Ivana; Jovanović, Dragan L.; Ljubenović, Dragiša; Ljubenović, Milanka; Stanojević, Milenko

    2007-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

  16. Ehlers-Danlos syndrome

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    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  17. High-fat diet induces significant metabolic disorders in a mouse model of polycystic ovary syndrome.

    Science.gov (United States)

    Lai, Hao; Jia, Xiao; Yu, Qiuxiao; Zhang, Chenglu; Qiao, Jie; Guan, Youfei; Kang, Jihong

    2014-11-01

    Polycystic ovary syndrome (PCOS) is the most common female endocrinopathy associated with both reproductive and metabolic disorders. Dehydroepiandrosterone (DHEA) is currently used to induce a PCOS mouse model. High-fat diet (HFD) has been shown to cause obesity and infertility in female mice. The possible effect of an HFD on the phenotype of DHEA-induced PCOS mice is unknown. The aim of the present study was to investigate both reproductive and metabolic features of DHEA-induced PCOS mice fed a normal chow or a 60% HFD. Prepubertal C57BL/6 mice (age 25 days) on the normal chow or an HFD were injected (s.c.) daily with the vehicle sesame oil or DHEA for 20 consecutive days. At the end of the experiment, both reproductive and metabolic characteristics were assessed. Our data show that an HFD did not affect the reproductive phenotype of DHEA-treated mice. The treatment of HFD, however, caused significant metabolic alterations in DHEA-treated mice, including obesity, glucose intolerance, dyslipidemia, and pronounced liver steatosis. These findings suggest that HFD induces distinct metabolic features in DHEA-induced PCOS mice. The combined DHEA and HFD treatment may thus serve as a means of studying the mechanisms involved in metabolic derangements of this syndrome, particularly in the high prevalence of hepatic steatosis in women with PCOS. © 2014 by the Society for the Study of Reproduction, Inc.

  18. Joint hypermobility syndrome and related pain

    Directory of Open Access Journals (Sweden)

    Nilay Sahin

    2016-06-01

    Full Text Available Hypermobility is defined as an abnormally increased range of motion of a joint resulting from the excessive laxity of the soft tissues. This paper is focused on this commonly forgotten cause of several morbidities. The etiology of hypermobility is not very well known. One decade ago, joint hypermobility syndrome was considered as a benign condition, but now it is recognized as a significant contributor to chronic musculoskeletal pain, besides impacting on other organs. Patients with joint hypermobility syndrome often have diffuse, chronic complaints that are inconsistent with the musculoskeletal system. Chronic pain may cause loss of proprioception and so increased sensitivity to microtrauma, premature osteoarthritis de- velopment, soft tissue problems, psychosocial disorders, and neurophysiological deficiencies. Osteoarthritis, pes planus, mechanical low back pain, and soft tissue rheumatisms are frequent musculoskeletal findings as well as subluxations, thoracic outlet syndrome, rectal and uterine prolapses, hernias, and stress incontinence. Joint hypermobility syndrome's treatment is not easy, and nonsteroidal anti-inflammatory drugs are not usually effective or adequate. Proprioceptive and strengthening exercises have been reported to have supportive and therapeutic effects, but we have limited data on this issue. Joint hypermobility syndrome must be accepted as a multisystem connective tissue disorder rather than just joint laxities. As a result; clinicians must be aware of complexities of connective tissue disorders and comorbidities. [Arch Clin Exp Surg 2016; 5(2.000: 105-112

  19. Frequency of significant three vessel coronary artery disease and left main stem disease in acute coronary syndrome patients having high LDL cholesterol level

    International Nuclear Information System (INIS)

    Zeb, S.; Achakzai, A.S.; Zeb, J.; Zeb, R.; Adil, M.; Jan, H.

    2017-01-01

    Objective: To calculate the frequency of significant three-vessel coronary artery and left main stem disease in patients presenting with acute coronary syndrome having high LDL cholesterol level. Methodology: This observational study was performed in Lady Reading Hospital, Peshawar, Pakistan from June 1, 2013 to December 31, 2013. All consecutive patients undergoing coronary angiography admitted with acute coronary syndrome within past 30 days and having LDL cholesterol more than 130mg/dl were included in the study. Demographic data was noted. The data was analyzed by using software SPSS version 16. Results: A total number of 206 patients were included in the study. Mean age was 51.25+-8.4 years. Of them, 139(67.5%) were male and 67(32.5%) female. Hypertension was found in 87(42.2%) patients, diabetes was found in 71(34.5%) patients, 56(27.2%) were smokers, family history of CAD was present in 39(18.9%) patients. The incidence of significant three vessel coronary artery disease was 52(25.2%) and left main stem disease were present in 15(7.2%). Out of 67(32.4%) with severe triple vessel and Left main stem disease, males were 51(76.1%) and females were 16(23.9%). Patients with significant three vessel and left main stem disease were more frequently males and younger. Conclusion: Patients having acute coronary syndrome with High LDL levels are more frequently have significant three vessel and Left main stem disease.

  20. Unusual presentation of Klinefelter syndrome

    Science.gov (United States)

    Das, Chanchal; Sahana, Pranab Kumar; Sengupta, Nilanjan; Roy, Mukut; Dasgupta, Ranen

    2013-01-01

    Introduction: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. Case Note: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. Conclusion: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease PMID:24910838

  1. The impact of significant other expressed emotion on patient outcomes in chronic fatigue syndrome.

    Science.gov (United States)

    Band, Rebecca; Barrowclough, Christine; Wearden, Alison

    2014-09-01

    Previous literature has identified the importance of interpersonal processes for patient outcomes in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME), particularly in the context of significant other relationships. The current study investigated expressed emotion (EE), examining the independent effects of critical comments and emotional overinvolvement (EOI) in association with patient outcomes. Fifty-five patients with CFS/ME and their significant others were recruited from specialist CFS/ME services. Significant other EE status was coded from a modified Camberwell Family Interview. Patient outcomes (fatigue severity, disability, and depression) were derived from questionnaire measures. Forty-four patients (80%) completed follow-up questionnaires 6-months after recruitment. Significant other high-EE categorized by both high levels of critical comments and high EOI was predictive of worse fatigue severity at follow-up. High-critical EE was associated with higher levels of patient depressive symptoms longitudinally; depressive symptoms were observed to mediate the relationship between high critical comments and fatigue severity reported at follow-up. There were higher rates of high-EE in parents than in partners, and this was because of higher rates of EOI in parents. Patients with high-EE significant others demonstrated poorer outcomes at follow-up compared with patients in low-EE dyads. One mechanism for this appears to be as a result of increased patient depression. Future research should seek to further clarify whether the role of interpersonal processes in CFS/ME differs across different patient-significant other relationships. The development of significant other-focused treatment interventions may be particularly beneficial for both patients and significant others. (PsycINFO Database Record (c) 2014 APA, all rights reserved).

  2. Moebius Syndrome

    Science.gov (United States)

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

  3. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  4. Joubert syndrome

    International Nuclear Information System (INIS)

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

    1998-01-01

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

  5. Clinical significance of fibromyalgia syndrome in different rheumatic diseases: Relation to disease activity and quality of life.

    Science.gov (United States)

    El-Rabbat M, Sarah; Mahmoud, Nermeen K; Gheita, Tamer A

    2017-04-11

    To describe the frequencies of fibromyalgia syndrome (FMS) in various rheumatic diseases; rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and Behçets disease (BD) patients and to study the relation to clinical manifestations and quality of life (QoL). 160 patients (50 RA, 50 SLE, 30 SSc and 30 BD) and matched corresponding healthy controls were included. Disease activity was assessed using disease activity score in 28 joints (DAS28) for RA, SLE Disease Activity index (SLEDAI), modified Rodnan skin score for SSc and BD Current Activity Form (BDCAF). The QoL was also recorded. Severity in FMS cases was estimated using the revised Fibromyalgia Impact Questionnaire score. In the RA, SLE, SSc and BD patients, FMS was found in 14%, 18%, 6.67% and 3.33% respectively compared to 2.1%, 3%, 3.3% and 0% in their corresponding controls. In RA patients, DAS28 was significantly higher in those with FMS (p=0.009) and significantly correlated with both Widespread Pain Index (WPI) (p=0.011) and Symptom Severity (SS) scale (p=0.012). The QoL scale in those with FMS was significantly worse (62.3±7.9) compared to those without (71.7±14.4) (p=0.023). In SLE patients, The WPI and SS both significantly correlated with the presence of thrombosis (r=0.28, p=0.049 and r=0.43, p=0.002 respectively). The SS scale tended to correlate with the SLEDAI (r=0.28, p=0.05). In BD patients, BDCAF and WPI significantly correlated (p=0.03). Fibromyalgia syndrome is more frequent in rheumatic diseases, could be related to the disease activity in RA and BD patients and to thrombosis in SLE and affected the QoL in RA. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  6. Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics.

    Science.gov (United States)

    Wulffaert, Josette; Scholte, Evert M; Dijkxhoorn, Yvette M; Bergman, Jorieke E H; van Ravenswaaij-Arts, Conny M A; van Berckelaer-Onnes, Ina A

    2009-08-01

    This study investigates the parental perception of stress related to the upbringing of children with CHARGE syndrome and its association with behavioral and physical child characteristics. Parents of 22 children completed the Nijmegen Parenting Stress Index-Short, Developmental Behavior Checklist, and Dutch Vineland Screener 0-12 and reported their child's problems with hearing, vision and ability to speak. Parenting stress was high in 59% of the subjects. Behavioral problems on the depression, autism, self-absorbed and disruptive behavior scales correlated positively with parenting stress. A non-significant trend was found, namely higher stress among the parents of non-speaking children. No associations were found with other child characteristics, i.e. level of adaptive functioning and intellectual disability, auditory and visual problems, deafblindness, gender, and age. Raising a child with CHARGE syndrome is stressful; professional support is therefore essential for this population. More research into other possible influencing characteristics is needed to improve family-oriented interventions. Since CHARGE is a rare syndrome, closer international collaboration is needed, not only to expand the group of study subjects to increase statistical power, but also to harmonize research designs and measurement methods to improve the validity, the reliability, and the generalization of the findings.

  7. Family Environment and Behavior Problems in Children, Adolescents, and Adults with Fragile X Syndrome

    Science.gov (United States)

    Greenberg, Jan S.; Seltzer, Marsha Mailick; Baker, Jason K.; Smith, Leann E.; Warren, Steven F.; Brady, Nancy; Hong, Jinkuk

    2012-01-01

    We examine how the family environment is associated with aspects of the Fragile X syndrome phenotype during childhood, adolescence, and adulthood. Mothers of children (n = 48), adolescents (n = 85), and adults (n = 34) with Fragile X syndrome participated in a multisite study. For children and adults with Fragile X syndrome, the presence of warmth…

  8. Differential Contributions of Polycystic Ovary Syndrome (PCOS) Manifestations to Psychological Symptoms.

    Science.gov (United States)

    McCook, Judy G; Bailey, Beth A; Williams, Stacey L; Anand, Sheeba; Reame, Nancy E

    2015-07-01

    The purpose of this study was to investigate the relative contributions of previously identified Polycystic ovary syndrome (PCOS) manifestations (infertility, hirsutism, obesity, menstrual problems) to multiple psychological symptoms. Participants were 126 female endocrinology patient volunteers diagnosed with PCOS who completed a cross-sectional study of PCOS manifestations and psychological symptoms. Participants had significantly elevated scores on nine subscales of psychological symptoms. Menstrual problems were significantly associated with all symptom subscales as well as the global indicator, while hirsutism and obesity were significantly related to five or more subscales. After controlling for demographic factors, menstrual problems were the strongest predictor of psychological symptoms. Findings suggest features of excess body hair, obesity, and menstrual abnormalities carry unique risks for adverse psychologic symptoms, but menstrual problems may be the most salient of these features and deserve particular attention as a marker for psychological risk among women with PCOS.

  9. Relationship between metabolic syndrome and its components with bone densitometry in postmenopausal women.

    Science.gov (United States)

    Abbasi, Mahnaz; Farzam, Seyed Amir; Mamaghani, Zahra; Yazdi, Zohreh

    2017-11-01

    Prevention of osteoporosis and bone fracture and the relationship between metabolic syndrome and bone density are controversial issues. The aim of this study was to evaluate the association between metabolic syndrome and its components with bone mineral density in post menopausal women referred for bone mineral density (BMD) test. A total of 143 postmenopausal women with at least one year of menopause experience participated in this cross-sectional study. Demographic and anthropometric characteristics for all participants were collected. Also, biochemical parameters including fasting blood sugar, Cholesterol (HDL and LDL), triglyceride were measured. Association between the components of metabolic syndrome and bone densitometry were analyzed by statistical methods. In this study, 72% of participants did not have metabolic syndrome. Among them, 43.4% and 28.7% had osteoporosis and normal density, respectively. Of remaining participants with metabolic syndrome, 12.6% and 15.4% had osteoporosis and normal density, respectively. Among the metabolic syndrome components, waist circumference, HDL cholesterol, and waist to hip ratio were significantly associated with bone mass (Pmetabolic syndrome did not have significant differences than women without metabolic syndrome in terms of lumbar and femoral neck density (P>0.05). Results from this study showed that metabolic syndrome and its components did not induce bone mass loss. The discrepancies of the studies in this area call for more large scale studies in population so as to prevent women problems in this area. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  10. Frequency of metabolic syndrome in patients with type-2 diabetes

    International Nuclear Information System (INIS)

    Ahmed, N.; Ahmad, T.; Hussain, S.J.; Javed, M.

    2010-01-01

    Background: Diabetes, Hypertension, Obesity and Ischaemic Heart Disease have become a problem of public health magnitude with substantial economic burden both in the developed as well as the developing countries. Obesity is quite frequent in Type 2 diabetics and also plays a central role in causing Metabolic Syndrome (MetS). Metabolic Syndrome significantly increases the incidence of cardiovascular complications. This study was done to determine the frequency of MetS in our Type 2 diabetic patients as most of the components of MetS can be modified and identifying/managing these at an early stage might be of considerable help in reducing cardiovascular complications. Methods: This cross-sectional study was done in Medical B and Medical A wards of Ayub Teaching Hospital, Abbottabad from Nov, 08 to April, 09. Type 2 Diabetic patients aged above 40 years who gave informed consent were included in the study. Data was collected through a structured proforma. Frequency of Metabolic Syndrome was estimated according to the IDF consensus worldwide definition of the MetS. Results: Of the 100 patients enrolled in this study 56 were females and 44 were males with a mean age of 59.9 years. Out of these 100 participants seventy six (76%) were diagnosed to have metabolic syndrome. Of the 56 females, forty eight (85.71%) were having metabolic syndrome while twenty eight (63.63%) of the 44 male participants were having the syndrome. The difference was statistically significant (p<0.05). Conclusion: Frequency of MetS was found to be significantly high in this study with female preponderance. All the components, except Hypertension were more frequent in females. Diabetic patients with metabolic syndrome need more aggressive approach in management so as to decrease the incidence of cardiovascular complications. (author)

  11. Characterization of pain, disability, and psychological burden in Marfan syndrome.

    Science.gov (United States)

    Speed, Traci J; Mathur, Vani A; Hand, Matthew; Christensen, Bryt; Sponseller, Paul D; Williams, Kayode A; Campbell, Claudia M

    2017-02-01

    The clinical manifestations of Marfan syndrome frequently cause pain. This study aimed to characterize pain in a cohort of adults with Marfan syndrome and investigate demographic, physical, and psychological factors associated with pain and pain-related disability. Two hundred and forty-five participants (73% female, 89% non-Hispanic white, 90% North American) completed an online questionnaire assessing clinical features of Marfan syndrome, pain severity, pain-related disability, physical and mental health, depressive symptoms, pain catastrophizing, and insomnia. Eighty-nine percent of respondents reported having pain with 28% of individuals reporting pain as a presenting symptom of Marfan syndrome. Almost half of individuals reported that pain has spread from its initial site. Participants in our study reported poor physical and mental health functioning, moderate pain-related disability, and mild levels of depressive symptoms, sleep disturbances, and pain catastrophizing. Those who identified pain as an initial symptom of Marfan syndrome and those who reported that pain had spread from its initial site reported greater psychological burden compared with those without pain as an initial symptom or pain spreading. Physical health is the largest predictor of pain severity and pain-related disability. While pain catastrophizing and worse mental health functioning are significant correlates of pain severity and pain-related disability, respectively. Pain is a significant and persistent problem in Marfan syndrome and is associated with profound disability and psychological burden. Further studies are indicated to better characterize the directionality of pain, pain-related disability, and psychological burden in Marfan syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  12. A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one

    DEFF Research Database (Denmark)

    Kantelinen, Jukka; Hansen, Thomas V O; Kansikas, Minttu

    2011-01-01

    Inherited pathogenic mutations in the mismatch repair (MMR) genes, MSH2, MLH1, MSH6, and PMS2 predispose to Lynch syndrome (LS). However, the finding of a variant or variants of uncertain significance (VUS) in affected family members complicates the risk assessment. Here, we describe a putative LS...

  13. COXA-VERTEBRAL SYNDROME AND ITS SIGNIFICANCE IN HIP ARTHROPLASTY (REVIEW

    Directory of Open Access Journals (Sweden)

    A. O. Denisov

    2012-01-01

    Full Text Available Lumbosacral spine and hip joints is a complex physiological functions of the co-operation of a large number of anatomical structures. Lesions of the links in the system can mutually afflict each other. Combined pathology of the hip and lumbosacral spine is called hip-spine syndrome, or coxa-vertebral syndrome. Symptoms of the joint and spine are very similar and only a careful examination and clinical examination may find the differences. As the disease progresses the hip increases the restriction of movement, there is a contracture of the limbs in a vicious position, which leads to an increase in tilt of the pelvis, increased lumbar lordosis and to functional shortening of limbs on the affected side. This gives rise to functional impairment, and then strain the joints of his spine and disease - osteochondrosis and scoliosis. After the successful operation of total hip replacement is often progressive clinical lesions of vertebral segment, which is manifested pain and is often offset by the results of arthroplasty as the restoration of movement in the hip joint, and the change in length limb after arthroplasty leads to rupture formed a functional stereotype change in the mobility of the lumbar spine, pelvis regression bias that causes the dynamic compression spinal nerve root. Depending on the duration of the existence, severity and nature of changes in the pelvic girdle is suitable correction of equipment replacement surgery, including, for example, in some cases, deliberate shortening or lengthening the preservation of the lower extremity, offset change, etc.

  14. Anxiety in Asperger's Syndrome: Assessment in Real Time

    Science.gov (United States)

    Hare, Dougal J.; Wood, Christopher; Wastell, Sarah; Skirrow, Paul

    2015-01-01

    Anxiety is a major problem for many people with Asperger's syndrome who may have qualitatively different fears from a non-Asperger's syndrome population. Research has relied on measures developed for non-Asperger's syndrome populations that require reporting past experiences of anxiety, which may confound assessment in people with Asperger's…

  15. Renal involvement in primary antiphospholipid syndrome.

    Science.gov (United States)

    Marcantoni, Carmelita; Emmanuele, Carmela; Scolari, Francesco

    2016-08-01

    Antiphospholipid syndrome is an autoimmune disorder characterized by recurrent venous or arterial thrombosis and/or pregnancy-related problems associated with persistently elevated levels of antiphospholipid antibodies. The kidney is a major target organ in both primary and secondary antiphospholipid syndrome. This review describes several aspects of the renal involvement in the primary form of the syndrome, in particular the histological pattern of the so-called antiphospholipid syndrome nephropathy (APSN). APSN is a vascular nephropathy characterized by small vessel vaso-occlusive lesions associated with fibrous intimal hyperplasia of interlobular arteries, recanalizing thrombi in arteries and arterioles, and focal atrophy, a constellation of morphological lesions suggestive of primary antiphospholipid syndrome.

  16. Menopause is an independent predictor of metabolic syndrome in Iranian women.

    Science.gov (United States)

    Eshtiaghi, Radina; Esteghamati, Alireza; Nakhjavani, Manouchehr

    2010-03-01

    Gender differences in prevalence and consequences of the metabolic syndrome as a strong predictor of cardiovascular disease (CVD), are challenging problems. Postmenopausal status may explain in part the cause of acceleration of CVD with aging. The purpose of this study was to investigate the relation of menopause and metabolic syndrome independent of aging among Iranian women. On the basis of consecutive recruitment, 940 women between 20 and 76 years old participated in the study. Anthropometric indices, fasting blood glucose, lipid profile were measured, Framingham risk score and homeostasis model assessment (HOMA-IR) were calculated for all participants. The metabolic syndrome (MetS) was defined according to the National Cholesterol Education Program Adult Treatment Panel III. We used IDF definition for metabolic syndrome modified by our recent local data as an alternative measurements. The overall prevalence of metabolic syndrome was 26.4%. Its prevalence was 53.5% in postmenopausal versus 18.3% in premenopausal women. On binary logistic regression analysis, HOMA index, body mass index, waist to hip ratio, family history of diabetes and hypertension had an independent and significant effect on metabolic syndrome. Age-adjusted odds ratio (OR) of postmenopausal status for metabolic syndrome was 2.85 (95%CI: 1.31-6.20) (Pmenopause had metabolic syndrome versus 24% in age-matched group and Framingham risk score was significantly higher than normal cases 5.4+/-4.9 versus 2.0+/-2.3 (PMenopausal status can be a predictor of metabolic syndrome independent of age in Iranian women. Menopause is a process closely related to insulin resistance and cardiovascular risk factors. Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.

  17. Marfan syndrome: Getting to the root of the problem

    NARCIS (Netherlands)

    Franken, R.

    2016-01-01

    In 1896 Antoine-Bernard Marfan was the first to describe a 5-year-old patient with typical Marfan features. Currently, the Marfan syndrome is known to be a heritable connective tissue disorder with a prevalence of 1 per 5000 individuals, affecting multiple organ-systems, including the lungs, eyes,

  18. Prader–Willi syndrome: clinical problems in transition from pediatric to adult care

    Directory of Open Access Journals (Sweden)

    Crinò A

    2016-07-01

    Full Text Available Antonino Crinò,1 Danilo Fintini,1 Sarah Bocchini,1 Chiara Carducci,1 Graziano Grugni,2 1Autoimmune Endocrine Diseases Unit, Bambino Gesù Children’s Hospital, Research Institute, Palidoro, Rome, 2Division of Auxology, Italian Auxological Institute, Research Institute, Piancavallo, Verbania, Italy Abstract: Prader–Willi syndrome (PWS represents the most common form of genetic obesity. Thanks to the advances in medical care and technology, many persons with PWS live longer and survive to adulthood. Currently, because of the many physical and behavioral manifestations, transitional health care is not easy for these patients and is considered a very important issue. Moreover, very few studies have examined these transitional problems in young adults with PWS. In recent years, there has been great interest in improving transition planning and support for young people with PWS reaching adulthood. In this article, we underline the main clinical problems in transition and give some advice to make this period less difficult and easier for adolescents with PWS. Special attention should be paid to obesity, diabetes mellitus, hypertension, osteoporosis, and sleep apnea during the period of transition. In PWS, for an effective transition from childhood to adulthood, a multidisciplinary team is needed, and should maintain the same approach to food, environment, and psychiatric issues. For comprehensive care, it is necessary to involve adult endocrinologists and other medical specialists in conjunction with the pediatric team. Parental involvement is, however, a great help for supervising adolescents with PWS during this particular period. Keywords: Prader–Willi, transition period, intellectual disabilities

  19. Serum vitamin D and the metabolic syndrome among osteoporotic postmenopausal female patients of a family practice clinic in Jordan.

    Science.gov (United States)

    Yasein, Nada; Shroukh, Wejdan; Hijjawi, Razan

    2015-01-01

    Vitamin D deficiency and insufficiency and the metabolic syndrome are two common health issues worldwide. The association between these two health problems is subject to debate. This study aims to investigate the association between vitamin D deficiency or insufficiency and the metabolic syndrome in a sample of osteoporotic postmenopausal women attending a family practice clinic in Amman-Jordan. This was an observational cross sectional study. It was carried out in the family practice clinic in Jordan University Hospital. The study included all postmenopausal osteoporotic women attending the clinic between June 2011 and May 2012, yielding a total of 326 subjects. The association between metabolic syndrome and serum vitamin D levels was investigated. Waist circumference, body mass index, triglycerides and fasting blood sugar were significantly higher among postmenopausal women with metabolic syndrome, but HDL cholesterol was significantly lower (pmetabolic syndrome among all study participants was 42.9%. Triglycerides and LDL cholesterol were significantly higher among women deficiency or insufficiency (pmetabolic syndrome, the prevalence of vitamin D deficiency or insufficiency was 50.7%. Findings of the current study suggest a lack of relationship between serum vitamin D and metabolic syndrome. However, a significant inverse relationship was found between serum vitamin D levels and both serum triglycerides and LDL levels.

  20. [Cerebellar cognitive affective syndrome secondary to a cerebellar tumour].

    Science.gov (United States)

    Domínguez-Carral, J; Carreras-Sáez, I; García-Peñas, J J; Fournier-Del Castillo, C; Villalobos-Reales, J

    2015-01-01

    Cerebellar cognitive affective syndrome is characterized by disturbances of executive function, impaired spatial cognition, linguistic difficulties, and personality change. The case of an 11 year old boy is presented, with behavior problems, learning difficulties and social interaction problems. In the physical examination he had poor visual contact, immature behavior, reduced expressive language and global motor disability with gait dyspraxia, with no defined cerebellar motor signs. In the neuropsychological evaluation he has a full scale overall intellectual quotient of 84, with signs of cerebellar cognitive affective syndrome. A tumour affecting inferior cerebellar vermis was observed in the magnetic resonance imaging, which had not significantly grown during 5 years of follow up. The cerebellum participates in controlling cognitive and affective functions. Cerebellar pathology must be considered in the differential diagnosis of children with cognitive or learning disorder with associated behavioral and emotional components. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  1. Considerations in Diagnosing Usher's Syndrome: RP and Hearing Loss.

    Science.gov (United States)

    Vernon, McCay

    1982-01-01

    The association of hearing loss and retinitis pigmentosa has been generally recognized as the genetic disorder of Usher's syndrome. The article reviews findings of this syndrome and suggests strategies for dealing with the clinical and psychological problems displayed by Usher's syndrome patients. (Author/SW)

  2. Rett Syndrome

    Science.gov (United States)

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

  3. Marfan Syndrome

    Science.gov (United States)

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

  4. Gastroesophageal reflux disease and its association with bronchiolitis obliterans syndrome in allogeneic hematopoietic stem cell transplant recipients.

    Science.gov (United States)

    Khalid, Mohammed; Aljurf, Mahmoud; Saleemi, Sarfraz; Khan, Mohammed Qaseem; Khan, Basha; Ahmed, Shad; Ibrahim, Khalid El Tayeb; Mobeireek, Abdullah; Al Mohareb, Fahad; Chaudhri, Naeem

    2013-06-01

    Bronchiolitis obliterans syndrome is a significant postallogeneic hematopoietic stem cell transplant problem. Recent data in lung transplant patients suggest an association with gastroesophageal reflux disease and bronchiolitis obliterans syndrome. We studied posthematopoietic stem cell transplant patients with bronchiolitis obliterans syndrome for gastroesophageal reflux disease and its response to a proton pump inhibitor. Seven postallogeneic hematopoietic stem cell transplant patients with bronchiolitis obliterans syndrome were studied. Gastroesophageal reflux disease was assessed by 24-hour pH monitoring with a Bravo catheter-free radio pH capsule. Patients with positive gastroesophageal reflux disease were started on omeprazole. Pretreatment and posttreatment pulmonary function tests were done at 3-month intervals. Of 7 patients, 5 had positive results for gastroesophageal reflux disease (71%). Omeprazole had a disease-stabilizing effect on the patients' pulmonary function tests. Our study shows a significant association between bronchiolitis obliterans syndrome and gastroesophageal reflux disease in postallogeneic hematopoietic stem cell transplant patients. Use of omeprazole may have a disease-stabilizing effect in short-term follow-up.

  5. Meier-Gorlin syndrome

    NARCIS (Netherlands)

    Munnik, S.A. de; Hoefsloot, E.H.; Roukema, J.; Schoots, J.; Knoers, N.V.A.M.; Brunner, H.G.; Jackson, A.P.; Bongers, E.M.H.F.

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  6. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Science.gov (United States)

    Choi, Intae

    2017-01-01

    The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  7. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

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

  8. Indoor air pollution and sick building syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Robertson, J P

    1997-12-31

    The topics discussed in this paper are accept that SBS (Sick building syndrome) is a reality ; understand the dimensions of the problem ; differentiate between sick building syndrome and building related illness ; introduce standards ; understanding the economics ; act pro-actively not re-actively.

  9. Indoor air pollution and sick building syndrome

    International Nuclear Information System (INIS)

    Robertson, J.P.

    1996-01-01

    The topics discussed in this paper are accept that SBS (Sick building syndrome) is a reality ; understand the dimensions of the problem ; differentiate between sick building syndrome and building related illness ; introduce standards ; understanding the economics ; act pro-actively not re-actively

  10. Crouzon syndrome: a social stigma.

    Science.gov (United States)

    Pandey, Neelisha; Pandey, Ramesh Kumar; Singh, Rajeev Kumar; Shah, Naveen Kumar

    2012-10-10

    Crouzon syndrome is a rare genetic disorder caused due to genetic mutations. It is characterised by partial hearing loss, dry eyes, strabismus and underdevelopment of the upper jaw with facial deformities and malocclusion. These facial deformities greatly affect the social and emotional development of the affected child. The present case report highlights the social problems faced by a child suffering with Crouzon syndrome.

  11. Alstrom syndrome: A rare genetic disorder and its anaesthetic significance

    Directory of Open Access Journals (Sweden)

    Akhilesh Tiwari

    2010-01-01

    Full Text Available Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac to the musculoskeletal system, among many others. It exposes the patient to various risks ranging from pulmonary aspiration and increased cardiac morbidity to separational anxiety, and may necessitate postoperative elective ventilation. We hereby present the successful management of one such diagnosed case in a 12-year-old boy, who presented to us for incision and drainage of an abscess present over the nape of his neck, along with foreign body removal from his right ear.

  12. Personality Profile of Male Adolescents With Tourette Syndrome: A Controlled Study.

    Science.gov (United States)

    Balottin, Laura; Selvini, Claudia; Luoni, Chiara; Mannarini, Stefania; Chiappedi, Matteo; Seri, Stefano; Termine, Cristiano; Cavanna, Andrea E

    2016-03-01

    Tourette syndrome is a neurodevelopmental disorder characterized by multiple tics and commonly associated with behavioral problems, especially obsessive-compulsive disorder and attention-deficit hyperactivity disorder (ADHD). The presence of specific personality traits has been documented in adult clinical populations with Tourette syndrome but has been underresearched in younger patients. We assessed the personality profiles of 17 male adolescents with Tourette syndrome and 51 age- and gender-matched healthy controls using the Minnesota Multiphasic Personality Inventory-Adolescent version, along with a standardized psychometric battery. All participants scored within the normal range across all Minnesota Multiphasic Personality Inventory-Adolescent version scales. Patients with Tourette syndrome scored significantly higher than healthy controls on the Obsessiveness Content Scale only (P = .046). Our findings indicate that younger male patients with Tourette syndrome do not report abnormal personality traits and have similar personality profiles to healthy peers, with the exception of obsessionality traits, which are likely to be related to the presence of comorbid obsessive compulsive symptoms rather than tics. © The Author(s) 2015.

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

    Science.gov (United States)

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

    2014-07-01

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

  14. Angelman Syndrome. Part 3 (Differential Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    O.Ye. Abaturov

    2015-10-01

    Full Text Available The article discusses the problem of differential diagnosis and treatment of patients with Angelman syndrome (AS. It provides the most common syndromes with similar to AS phenotypes, the main differences between AS-like syndromes, indicating the causative gene. Much attention is given to the basic directions of treating patients with Angelman syndrome: organization of regime, syndromic treatment, providing psychological, speech therapy, orthopedic services, occupational therapy, activities aimed at social adaptation. This article contains the latest information about modern progressive directions of AS medical management. To optimize the diagnostic and therapeutic process, data about international Angelman syndrome foundations are shown.

  15. Cognitive and behavioral heterogeneity in genetic syndromes

    Directory of Open Access Journals (Sweden)

    Luiz F.L. Pegoraro

    2014-04-01

    Full Text Available OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds. METHODS: thirty-four children aged 6 to 16 years, with Williams-Beuren syndrome (n = 10, Prader-Willi syndrome (n = 11, and Fragile X syndrome (n = 13 from the outpatient clinics of Child Psychiatry and Medical Genetics Department were cognitively assessed through the Wechsler Intelligence Scale for Children (WISC-III. Afterwards, a full-scale intelligence quotient (IQ, verbal IQ, performance IQ, standard subtest scores, as well as frequency of psychiatric symptoms and disorders were compared among the three syndromes. RESULTS: significant differences were found among the syndromes concerning verbal IQ and verbal and performance subtests. Post-hoc analysis demonstrated that vocabulary and comprehension subtest scores were significantly higher in Williams-Beuren syndrome in comparison with Prader-Willi and Fragile X syndromes, and block design and object assembly scores were significantly higher in Prader-Willi syndrome compared with Williams-Beuren and Fragile X syndromes. Additionally, there were significant differences between the syndromes concerning behavioral features and psychiatric symptoms. The Prader-Willi syndrome group presented a higher frequency of hyperphagia and self-injurious behaviors. The Fragile X syndrome group showed a higher frequency of social interaction deficits; such difference nearly reached statistical significance. CONCLUSION: the three genetic syndromes exhibited distinctive cognitive, behavioral, and psychiatric patterns.

  16. Sleep disorders in children with Tourette syndrome.

    Science.gov (United States)

    Ghosh, Debabrata; Rajan, Prashant V; Das, Deepanjana; Datta, Priya; Rothner, A David; Erenberg, Gerald

    2014-07-01

    The objective of this study was to determine the frequency, nature, and impact of sleep disorders in children and adolescents with Tourette syndrome and to raise awareness about their possible inclusion as a Tourette syndrome comorbidity. Using a prospective questionnaire, we interviewed 123 patients of age ≤21 years with a confirmed diagnosis of Tourette syndrome. Each completed questionnaire was then reviewed in accordance with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, criteria for categorization to a form of sleep disorder. Of the 123 patients with Tourette syndrome, 75 (61%) had comorbid attention deficit hyperactivity disorder and 48 (39%) had Tourette without attention deficit hyperactivity disorder. The sleep problems observed included problems in the nature of sleep, abnormal behaviors during sleep, and impact of sleep disturbances on quality of life. Within these cohorts, 31 (65%) of the 48 Tourette-only patients and 48 (64%) of the 75 Tourette + attention deficit hyperactivity disorder patients could fit into some form of Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, coded sleep disorders. Of the 48 Tourette + attention deficit hyperactivity disorder patients with sleep disorders, 36 (75%) had insomnia signs, which could be explained by the co-occurrence of attention deficit hyperactivity disorder and high stimulant use. However, 10 (32%) of the 31 Tourette-only patients with sleep disorders had insomnia irrespective of attention deficit hyperactivity disorder or medication use. Sleep problems are common in children with Tourette syndrome irrespective of comorbid attention deficit hyperactivity disorder, justifying their inclusion as a comorbidity of Tourette syndrome. Copyright © 2014 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2015-05-01

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

  18. The association between the metabolic syndrome and metabolic syndrome score and pulmonary function in non-smoking adults.

    Science.gov (United States)

    Yoon, Hyun; Gi, Mi Young; Cha, Ju Ae; Yoo, Chan Uk; Park, Sang Muk

    2018-03-01

    This study assessed the association of metabolic syndrome and metabolic syndrome score with the predicted forced vital capacity and predicted forced expiratory volume in 1 s (predicted forced expiratory volume in 1 s) values in Korean non-smoking adults. We analysed data obtained from 6684 adults during the 2013-2015 Korean National Health and Nutrition Examination Survey. After adjustment for related variables, metabolic syndrome ( p metabolic syndrome score ( p metabolic syndrome score with metabolic syndrome score 0 as a reference group showed no significance for metabolic syndrome score 1 [1.061 (95% confidence interval, 0.755-1.490)] and metabolic syndrome score 2 [1.247 (95% confidence interval, 0.890-1.747)], but showed significant for metabolic syndrome score 3 [1.433 (95% confidence interval, 1.010-2.033)] and metabolic syndrome score ⩾ 4 [1.760 (95% confidence interval, 1.216-2.550)]. In addition, the odds ratio of restrictive pulmonary disease of the metabolic syndrome [1.360 (95% confidence interval, 1.118-1.655)] was significantly higher than those of non-metabolic syndrome. Metabolic syndrome and metabolic syndrome score were inversely associated with the predicted forced vital capacity and forced expiratory volume in 1 s values in Korean non-smoking adults. In addition, metabolic syndrome and metabolic syndrome score were positively associated with the restrictive pulmonary disease.

  19. Common Menstrual Problems among Slum Adolescent Girls of Western Maharashtra, India

    Directory of Open Access Journals (Sweden)

    Ganganahalli P

    2013-01-01

    Full Text Available Background: Menstruation, an important part of female reproductive cycle but menstrual dysfunction in adolescent girls may affect normal life of adolescent and young adult women.Objectives: To assess the percentage of common menstrual problems among adolescent girls from urban slums and to determine the correlation between common menstrual problems with nutritional status of these girls. Methodology: A cross sectional study was conducted among adolescent girls residing in urban slum area under the field practice area of Krishna Institute of Medical Sciences Karad of Western Maharashtra, India during the month of November - December 2011. 237 adolescent girls,age between 12-19 years were interviewed and examined using pretested semistructured questionnaire. Data was collected by researchers with the help of Medical Officer and Medical Social Worker of Urban Health Training Center by personal interview and clinical examination method. Data was compiled and presented into frequency percentage distribution. Chisquare test was applied to determine the association between common menstrual problem swith body mass index and anemia. Results: Out of total 237 adolescent girls, 230 (97.04% had attained menarche of which, 147 girls(63.91% had regular and 83(36.08% had irregular menstrual cycle with mean age at menarche by recall method was 12.8 yrs. The percentage of common menstrual problems such as oligomenorrhea, menorrhagia, metrorrhagia,hypomenorrhea, dysmenorrhea, and premenstrual syndrome were 16.08%, 17.82%, 27.39%,59.56%, 49.13% and 46.52% respectively,however amenorrhea ( primary was seen in 3(0.01% girls. Prevalence of under nutrition and anemia was 40.86% and 60.43%. Health seeking behavior for common menstrual problem was seen in only 25.75% girls. Oligomenorrhea, menorrhagia, hypomenorrhea, dysmenorrhea, and premenstrual syndrome were significantly associated with anemia; however BMI was significantly associated with dysmenorrhea

  20. Mechanisms, Risk Factors, and Management of Acquired Long QT Syndrome: A Comprehensive Review

    Directory of Open Access Journals (Sweden)

    Eleftherios M. Kallergis

    2012-01-01

    Full Text Available Long QT syndrome is characterized by prolongation of the corrected QT (QTc interval on the surface electrocardiogram and is associated with precipitation of torsade de pointes (TdP, a polymorphic ventricular tachycardia that may cause sudden death. Acquired long QT syndrome describes pathologic excessive prolongation of the QT interval, upon exposure to an environmental stressor, with reversion back to normal following removal of the stressor. The most common environmental stressor in acquired long QT syndrome is drug therapy. Acquired long QT syndrome is an important issue for clinicians and a significant public health problem concerning the large number of drugs with this adverse effect with a potentially fatal outcome, the large number of patients exposed to these drugs, and our inability to predict the risk for a given individual. In this paper, we focus on mechanisms underlying QT prolongation, risk factors for torsades de pointes and describe the short- and long-term treatment of acquired long QT syndrome.

  1. Motor performance in children with Noonan syndrome

    NARCIS (Netherlands)

    Croonen, E.A.; Essink, M.; Burgt, I. van der; Draaisma, J.M.; Noordam, C.; Nijhuis-Van der Sanden, M.W.G.

    2017-01-01

    Although problems with motor performance in daily life are frequently mentioned in Noonan syndrome, the motor performance profile has never been systematically investigated. The aim of this study was to examine whether a specific profile in motor performance in children with Noonan syndrome was seen

  2. [Gorlin-Goltz syndrome--a case report].

    Science.gov (United States)

    Debski, Tomasz; Jethon, Józef

    2010-06-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is an autosomal dominant syndrome caused by mutations found on chromosome 9. The syndrome is characterized by increased predisposition to develop a basal cell carcinoma and associated with multiorgan anomalies. To present a case of GGS and explain modern standards of care for patients with this syndrome. Authors report the case of a 36-year-old patient who was admitted to the Plastic Surgery Clinic due to numerous basal cell carcinomas. Previously patient underwent an orthopaedic, neurologic, dermatologic, stomatologic and surgery treatment due to particular anomalies which characterize this syndrome. Comprehensive interview and broadening of the diagnostics enabled to diagnose GGS and to introduce the appropriate treatment. GGS is a multidisciplinary problem and widespread knowledge of this syndrome could accelerate the diagnosis process. Early diagnosis of GGS allows to introduce the secondary prophylaxis and to apply the appropriate treatment to slow the progress of the syndrome.

  3. Seasonal changes in mood and behavior are linked to metabolic syndrome.

    Directory of Open Access Journals (Sweden)

    Reeta Rintamäki

    Full Text Available BACKGROUND: Obesity is a major public health problem worldwide. Metabolic syndrome is a risk factor to the cardiovascular diseases. It has been reported that disruptions of the circadian clockwork are associated with and may predispose to metabolic syndrome. METHODOLOGY AND PRINCIPAL FINDINGS: 8028 individuals attended a nationwide health examination survey in Finland. Data were collected with a face-to-face interview at home and during an individual health status examination. The waist circumference, height, weight and blood pressure were measured and samples were taken for laboratory tests. Participants were assessed using the ATP-III criteria for metabolic syndrome and with the Seasonal Pattern Assessment Questionnaire for their seasonal changes in mood and behavior. Seasonal changes in weight in particular were a risk factor of metabolic syndrome, after controlling for a number of known risk and potential confounding factors. CONCLUSIONS AND SIGNIFICANCE: Metabolic syndrome is associated with high global scores on the seasonal changes in mood and behavior, and with those in weight in particular. Assessment of these changes may serve as a useful indicator of metabolic syndrome, because of easy assessment. Abnormalities in the circadian clockwork which links seasonal fluctuations to metabolic cycles may predispose to seasonal changes in weight and to metabolic syndrome.

  4. Fragile X syndrome and fragile X-associated disorders [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Akash Rajaratnam

    2017-12-01

    Full Text Available Fragile X syndrome (FXS is caused by a full mutation on the FMR1 gene and a subsequent lack of FMRP, the protein product of FMR1. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the FMR1 premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.

  5. Prevalence of conventional risk factors and lipid profiles in patients with acute coronary syndrome and significant coronary disease

    Directory of Open Access Journals (Sweden)

    González-Pacheco H

    2014-10-01

    Full Text Available Héctor González-Pacheco,1 Jesús Vargas-Barrón,2 Maite Vallejo,2 Yigal Piña-Reyna,3 Alfredo Altamirano-Castillo,1 Pedro Sánchez-Tapia,1 Carlos Martínez-Sánchez1 1Coronary Care Unit, National Institute of Cardiology in Mexico City, Mexico City, Mexico; 2Department of Clinical Research, National Institute of Cardiology in Mexico City, Mexico City, Mexico; 3Catheterization Laboratory, National Institute of Cardiology in Mexico City, Mexico City, Mexico Background: Among patients with coronary artery disease (CAD, 80%–90% present at least one conventional risk factor. On the other hand, lipid profile modification after a cardiovascular event related to acute coronary syndrome (ACS has been recognized. The prevalence of conventional risk factors and the lipid profile at the time of admission in patients with ACS and significant CAD (stenosis ≥50% determined through coronary angiography is not well described. Methods: We studied 3,447 patients with a diagnosis of ACS and significant CAD with stenosis ≥50%, as shown on angiography. We recorded the presence of conventional risk factors, including smoking, hypertension, dyslipidemia, and diabetes. In addition, we analyzed the lipid profiles within the first 24 hours of admission. We analyzed the studied population and compared findings according to sex.Results: Most patients (81.7% were male. ST-elevation myocardial infarction was present in 51.3% of patients, and non-ST-elevation acute coronary syndrome was present in 48.7%. The most frequent risk factor was smoking, which was present in 68% of patients, followed by hypertension (57.8%, dyslipidemia (47.5%, and diabetes (37.7%. In women, the most frequent risk factors were hypertension, diabetes, and dyslipidemia, whereas in men, smoking was the most frequent. We identified at least one risk factor in 95.7% of all patients, two or three risk factors in 62%, and four risk factors in 8.6% of patients. The lipid profile analysis revealed that

  6. Bladder pain syndrome

    DEFF Research Database (Denmark)

    Hanno, Philip; Nordling, Jørgen; Fall, Magnus

    2011-01-01

    Bladder pain syndrome is a deceptively intricate symptom complex that is diagnosed on the basis of chronic pelvic pain, pressure, or discomfort perceived to be related to the urinary bladder, accompanied by at least one other urinary symptom. It is a diagnosis of exclusion in a patient who has ex...... can be challenging, and misdiagnosis as a psychological problem, overactive bladder, or chronic urinary infection has plagued patients with the problem....

  7. Treatment of Moderate to Severe of Premenstrual Syndrome with

    Directory of Open Access Journals (Sweden)

    Masoumeh Delaram

    2014-03-01

    Full Text Available Background: Premenstrual Syndrome (PMS is the appearance of annoying symptoms, disrupting women's daily activities as well as inducing problems. Different treatment were suggested for its and the method with the least side effects will be preferred. The aim of this study was to determine the effect of Echinophora platyloba extract on PMS in the students of Shahr-e-Kord University Of Medical sciences in Iran. Materials and Methods: Sixty students having moderate to severe PMS, participated in a single-blind randomized clinical trial. The students were randomly assigned into two equal groups. The first group received the Echinophora platyloba (E. platyloba extract and the second group received placebo. The Daily Record of Severity of Problem (DRSP questionnaire was used to quantify PMS severity before and after the intervention. At the end of first and second cycles after the intervention, the severity of PMS was detected and compared with before intervention. Data analysis was performed by using Mann-Whitney U, Wilcoxon and Pearson correlation test. Results: There was not a significant difference in the severity of premenstrual syndrome between the E. platyloba and placebo group before the intervention (100.8±22.1 vs. 104.3±19.5. A significant difference was found between two groups after the intervention [(49.7±23.2 vs. 79.1±28.1, p=0.002]. Conclusion: E. platyloba extract is probably effective in the treatment of premenstrual syndrome. Using of this herbal extract is suggested for the treatment of PMS.

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

    DEFF Research Database (Denmark)

    Llewellyn, A; McCabe, CS; Hibberd, Y

    2018-01-01

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

  9. Clinical significance of anti-domain 1 β2-glycoprotein I antibodies in antiphospholipid syndrome.

    Science.gov (United States)

    Iwaniec, Teresa; Kaczor, Marcin P; Celińska-Löwenhoff, Magdalena; Polański, Stanisław; Musiał, Jacek

    2017-05-01

    Antiphospholipid syndrome (APS) is characterized by the presence of circulating antiphospholipid antibodies (aPL) in patients with thrombosis and/or pregnancy morbidity. In APS patients anti-domain 1 β2-glycoprotein I (anti-D1 β2GPI) IgG antibodies correlate strongly with thrombosis and to the lesser extent, with pregnancy complications. The aim of this study was to assess clinical utility of the anti-D1 β2GPI antibodies in the diagnosis and risk stratification of antiphospholipid syndrome. In this retrospective study 202 autoimmune patients were studied (primary APS - 58, secondary - 45 SLE - 99). Anticardiolipin (aCL) and anti-β 2 GPI (aβ 2 GPI antibodies) (IgG and IgM class) together with anti-D1 IgG were tested with QUANTA Flash chemiluminescent immunoassay and lupus anticoagulant (LA) with coagulometric methods. The highest anti-D1 values were observed in triple positive patients as compared to patients with other antiphospholipid antibody profiles. A strong correlation was found between levels of anti-D1 IgG and a β2GPI IgG antibodies for all patients analyzed (Spearman's ρ=0.87; p<0.0001). Anti-D1 IgG antibodies increase specificity resulting from classic aPL positivity but at the expense of sensitivity. Anti-D1 test does not add accuracy in predicting APS thrombotic complications on the top of accuracy offered by classic aPL tests and their profiles. Anti-D1 IgG antibodies did not add diagnostic power to the standard laboratory aPL tests as assessed by this retrospective study. A true clinical significance of anti-D1 antibodies in thrombotic risk stratification of aPL positive patients will require a properly designed clinical prospective trials. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Paraneoplastic Sjogren’s syndrome in gastric cancer

    Directory of Open Access Journals (Sweden)

    R F Khamitov

    2018-04-01

    Full Text Available In clinical practice, various masks of oncological diseases are often found. Some of them can manifest as a variety of syndromes or symptom complexes that resemble many non-oncologic diseases, including diffuse connective tissue diseases. In some cases, paraneoplastic syndrome facilitates diagnosing a malignant neoplasm in the early stages, but, unfortunately, can also mimic the tumor process by its more prominent manifestations, which lead to late establishment of the true cause of the disease, and therefore postpone specific treatment, creating significant clinical problems. Aim of the study was to reveal pathogenetic relationship between cancer and paraneoplastic syndrome on the example of our clinical observation. A clinical case of diagnosed paraneoplastic syndrome in the form of secondary Sjogren's syndrome, which developed long before the diagnosis of stomach cancer was made, as well as the results of clinical, instrumental, and laboratory examination of the patient, are presented. Questions of epidemiology, etiopathogenesis, and clinical picture of paraneoplastic syndrome are covered. The presented clinical case made it possible to outline the features of the course of paraneoplastic Sjogren's syndrome in gastric cancer and to identify a number of criteria for the diagnostic algorithm of this nosology. In particular, such criteria include general pathogenetic mechanisms, development only in malignant tumors, nonspecific clinical and laboratory manifestations, lack of parallelism with local symptoms of the tumor, the possibility of occurrence of paraneoplastic Sjogren's syndrome before development of local tumor symptoms and reappearance after its relapse. Oncologic diseases are characterized not only by specific symptoms characteristic for a certain organ damage (pain, bleeding, dysfunction, etc., but also by a variety of nonspecific manifestations (fatigue, subfebrile temperature, weight loss, etc. regardless of the nature, location and

  11. Residual health status after Guillain-Barre syndrome

    NARCIS (Netherlands)

    Bernsen, RAJAM; Jacobs, HM; deJager, AEJ; vanderMeche, FGA

    To study the extent to which patients experience residual problems in daily functioning several years after having Guillain-Barre syndrome (GBS) a survey of 123 patients who had had Guillain-Barre syndrome three to six years previously was performed, using the sickness impact profile (SIP) for

  12. 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.

  13. Does wastewater discharge have relations with increase of Turner syndrome and Down syndrome?

    Directory of Open Access Journals (Sweden)

    Intae Choi

    2017-08-01

    Full Text Available The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea’s metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution. Air pollutants did not have a significant impact on the number of Turner syndrome and Down syndrome cases; however, the increase in number of wastewater discharge companies did have a significant relationship with the number of cases. The more the number of wastewater discharge companies, the more the number Turner syndrome and Down syndrome cases were observed. Therefore, scientific investigation on water and air pollutants in relation with genetic health effects needs to be performed.

  14. Significantly lengthened telomere in granulosa cells from women with polycystic ovarian syndrome (PCOS).

    Science.gov (United States)

    Wei, Duo; Xie, Juanke; Yin, Baoli; Hao, Haoying; Song, Xiaobing; Liu, Qi; Zhang, Cuilian; Sun, Yingpu

    2017-07-01

    Polycystic ovary syndrome (PCOS) is the most common endocrinopathy among women at reproductive age. However, its etiology remains poorly understood. Recent studies indicated that telomere length was related to PCOS. However, the association between telomere length and PCOS has only been shown in leucocytes and remained controversial across different studies. To clarify the association between telomere length and PCOS, the current study interrogated telomere length not only in leucocytes, but also in follicular granulosa cells, which is essential for folliculogenesis and steroidogenesis. Seventy-five patients with PCOS and 81 controls with mechanical infertility undergoing their first in vitro fertilization cycle were enrolled. Their peripheral blood and granulosa cells were collected on the oocyte retrieval day. Telomere length of both leucocytes in the blood and granulosa cells was assayed by quantitative polymerase chain reaction. No significant difference was found in the leucocyte telomere length between controls and PCOS patients (0.99 ± 0.44 vs. 1.00 ± 0.38, p = 0.93). Interestingly, when comparing telomere length in granulosa cells between controls and PCOS subjects, significantly lengthened telomere length was found in PCOS subjects (1.00 ± 0.37 vs. 1.57±0.67, p < 0.0001). After adjustments for age and body mass index, the p value remained significant (p < 0.0001). This finding reinforced the association between telomere abnormalities and PCOS. Given the importance of telomere length in cellular proliferation, our findings provided novel insights into the pathophysiology of PCOS that abnormalities in telomere length possibly disturb folliculogenesis and subsequently result in PCOS.

  15. Research Thinking of Low-intensity laser For the Treatment of Menopausal Syndrome

    International Nuclear Information System (INIS)

    Chen, G Z; Wang, X Y; Xu, Y X; Li, L J; Liu, S H

    2011-01-01

    Female climacteric syndrome is a clinical syndrome due to autonomic nerve dysfunction occurring in women during climacteric period, which may affect their physical and mental health. Therefore, how to pass climacteric period for women without any problems, avoid or reduce the occurrence of climacteric syndrome, prevent geriatric diseases and improve life quality is a key issue now for great attention. Looking for a convenient, effective, and safer method without toxic-side effects to control the disease is a modern medical problem. By analyzing the relationship between laser technology and traditional acupuncture and moxibustion, the advantage and the existing problems on acupuncture and moxibustion for the treatment of menopausal syndrome, the application of laser methods for the mechanism research on TCM diagnosis and treatment of menopausal syndrome was discussed. It's pointed out that the laser acupuncture is safe and effective to treat menopausal syndrome. Breakthrough will be achieved from the research of the selection of the acupoint prescription and mechanism of Acupuncture and Moxibustion for the treatment of menopausal syndrome by utilizing the advantage of interdisciplinary intersection. Laser technology will make the development of acupuncture and moxibustion science possess an unprecedented field.

  16. Research Thinking of Low-intensity laser For the Treatment of Menopausal Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Chen, G Z; Wang, X Y [Second Clinical Medical College, Guangzhou University of Chinese Medicine, Guangzhou, 510405 (China); Xu, Y X; Li, L J [Acupuncture and Massage College, Guangzhou University of Chinese Medicine, Guangzhou, 510405 (China); Liu, S H, E-mail: xuyx1968@163.com [South China Normal University, Guangzhou, 510631 (China)

    2011-02-01

    Female climacteric syndrome is a clinical syndrome due to autonomic nerve dysfunction occurring in women during climacteric period, which may affect their physical and mental health. Therefore, how to pass climacteric period for women without any problems, avoid or reduce the occurrence of climacteric syndrome, prevent geriatric diseases and improve life quality is a key issue now for great attention. Looking for a convenient, effective, and safer method without toxic-side effects to control the disease is a modern medical problem. By analyzing the relationship between laser technology and traditional acupuncture and moxibustion, the advantage and the existing problems on acupuncture and moxibustion for the treatment of menopausal syndrome, the application of laser methods for the mechanism research on TCM diagnosis and treatment of menopausal syndrome was discussed. It's pointed out that the laser acupuncture is safe and effective to treat menopausal syndrome. Breakthrough will be achieved from the research of the selection of the acupoint prescription and mechanism of Acupuncture and Moxibustion for the treatment of menopausal syndrome by utilizing the advantage of interdisciplinary intersection. Laser technology will make the development of acupuncture and moxibustion science possess an unprecedented field.

  17. Intellectual development in Noonan syndrome: A longitudinal study

    NARCIS (Netherlands)

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

    2016-01-01

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

  18. Determinants of emotional problems and mood disorders in women with polycystic ovary syndrome.

    Science.gov (United States)

    Głowińska, Aleksandra; Zielona-Jenek, Monika; Pawelczyk, Adam; Banaszewska, Beata E

    2016-01-01

    The aim of the study was to assess the prevalence and severity of emotional problems among Polish women with polycystic ovary syndrome (PCOS) and seek factors which increase the risk of their occurrence. The study group consisted of 82 women (aged 18-48), who were diagnosed with PCOS based on the Rotterdam criteria. During hospitalization, the patients completed a number of questionnaires, providing their sociodemographic data and information concerning the inconvenience of disease-associated symptoms. The question-naires included the Beck Depression Inventory (BDI), State-Trait Anxiety Inventory (STAI), and Multidimensional Self-Esteem Inventory (MSEI). Data obtained during medical examinations (blood tests, transvaginal ultrasound, height and body mass measurements) were analyzed. Out of 82 women, the results detected risk for depression in 42 (51.22%), mild depressive disorders in 32, moderate disorders in 8, and severe disorder in 2 patients. No statistically significant correlation between BDI or state anxiety and the level of the analyzed hormones, insulin resistance, or infertility treatment, was found. General self-esteem, trait anxi-ety, and marital status were associated with the occurrence of depression symptoms. BMI was associated with the level of state anxiety during hospitalization. Women with PCOS are at risk for mood and anxiety disorders. Disease-related somatic factors are not directly associated with the risk for disorder occurrence. However, severity of depression symptoms has been shown to be influenced by permanent psychological characteristics of the studied women, i.e. self-esteem, trait anxiety, and life situation (marital status). Therefore, it is recommended to include interviews about patient life situation and screening questionnaires for assessing depression into the diagnostic procedures in PCOS patients. Patients should be referred for a psychological or psychiatric consultation, if needed.

  19. Phantom breast syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh

    2009-01-01

    Full Text Available Phantom breast syndrome is a type of condition in which patients have a sensation of residual breast tissue and can include both non-painful sensations as well as phantom breast pain. The incidence varies in different studies, ranging from approximately 30% to as high as 80% of patients after mastectomy. It seriously affects quality of life through the combined impact of physical disability and emotional distress. The breast cancer incidence rate in India as well as Western countries has risen in recent years while survival rates have improved; this has effectively increased the number of women for whom post-treatment quality of life is important. In this context, chronic pain following treatment for breast cancer surgery is a significantly under-recognized and under-treated problem. Various types of chronic neuropathic pain may arise following breast cancer surgery due to surgical trauma. The cause of these syndromes is damage to various nerves during surgery. There are a number of assumed factors causing or perpetuating persistent neuropathic pain after breast cancer surgery. Most well-established risk factors for developing phantom breast pain and other related neuropathic pain syndromes are severe acute postoperative pain and greater postoperative use of analgesics. Based upon current evidence, the goals of prophylactic strategies could first target optimal peri-operative pain control and minimizing damage to nerves during surgery. There is some evidence that chronic pain and sensory abnormalities do decrease over time. The main group of oral medications studied includes anti-depressants, anticonvulsants, opioids, N-methyl-D-asparate receptor antagonists, mexilitine, topical lidocaine, cannabinoids, topical capsaicin and glysine antagonists. Neuromodulation techniques such as motor cortex stimulation, spinal cord stimulation, and intrathecal drug therapies have been used to treat various neuropathic pain syndromes.

  20. Disability and functional assessment in former polio patients with and without postpolio syndrome

    NARCIS (Netherlands)

    Nollet, F.; Beelen, A.; Prins, M. H.; de Visser, M.; Sargeant, A. J.; Lankhorst, G. J.; de Jong, B. A.

    1999-01-01

    OBJECTIVES: To compare perceived health problems and disability in former polio subjects with postpolio syndrome (PPS) and those without postpolio syndrome (non-PPS), and to evaluate perceived health problems, disability, physical performance, and muscle strength. DESIGN: Cross-sectional survey;

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1992-12-31

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

  2. The Marfan Syndrome: A Booklet for Teachers.

    Science.gov (United States)

    Bernhardt, Barbara A.

    This booklet explains characteristics of Marfan Syndrome, an inherited disorder of connective tissue which can be life-threatening if untreated. Medical problems affecting various parts of the body such as the heart, the skeleton, the eyes and the skin associated with Marfan Syndrome are discussed. Possible medical emergencies are identified.…

  3. Sleep-related problems in common medical conditions.

    Science.gov (United States)

    Parish, James M

    2009-02-01

    Common medical problems are often associated with abnormalities of sleep. Patients with chronic medical disorders often have fewer hours of sleep and less restorative sleep compared to healthy individuals, and this poor sleep may worsen the subjective symptoms of the disorder. Individuals with lung disease often have disturbed sleep related to oxygen desaturations, coughing, or dyspnea. Both obstructive lung disease and restrictive lung diseases are associated with poor quality sleep. Awakenings from sleep are common in untreated or undertreated asthma, and cause sleep disruption. Gastroesophageal reflux is a major cause of disrupted sleep due to awakenings from heartburn, dyspepsia, acid brash, coughing, or choking. Patients with chronic renal disease commonly have sleep complaints often due to insomnia, insufficient sleep, sleep apnea, or restless legs syndrome. Complaints related to sleep are very common in patients with fibromyalgia and other causes of chronic pain. Sleep disruption increases the sensation of pain and decreases quality of life. Patients with infectious diseases, including acute viral illnesses, HIV-related disease, and Lyme disease, may have significant problems with insomnia and hypersomnolence. Women with menopause have from insomnia, sleep-disordered breathing, restless legs syndrome, or fibromyalgia. Patients with cancer or receiving cancer therapy are often bothered by insomnia or other sleep disturbances that affect quality of life and daytime energy. The objective of this article is to review frequently encountered medical conditions and examine their impact on sleep, and to review frequent sleep-related problems associated with these common medical conditions.

  4. Obstructive sleep apnea syndrome and growth failure.

    Science.gov (United States)

    Esteller, E; Villatoro, J C; Agüero, A; Lopez, R; Matiñó, E; Argemi, J; Girabent-Farrés, M

    2018-05-01

    Obstructive sleep apnea syndrome is a common problem among children and is recognized as a cause of significant medical morbidity. Since the 1980s, it has been suggested that obstructive sleep apnea syndrome is a risk factor for growth failure in children. In many cases, it has been shown that growth failure is reversible once the obstructive sleep apnea syndrome is resolved. The objectives of this study were to analyze and compare growth failure prevalence in a Mediterranean population of children with obstructive sleep apnea syndrome and healthy children matched in age and sex, and to assess the effectiveness of tonsillectomy and adenoidectomy in resolving growth retardation. We compared 172 children with obstructive sleep apnea syndrome (apnea-hypopnea index ≥ 3) who had undergone tonsillectomy and adenoidectomy with 172 healthy controls in terms of key anthropometric parameters. Most of the criteria used for growth failure were higher to a statistically significant degree in the study group vs the control group: height-for-age ≤ 3rd percentile (7.56% vs 2.91%; p = 0.044), weight-for-age ≤ 5th percentile (9.30% vs 2.33%; p = 0.005), weight-for-age ≤ 3rd percentile (8.14% vs 2.33%; p = 0.013) and height and/or weight for-age ≤ 5th percentile (13.95% vs 5.81%; p = 0.009). The height-for-age ≤ 5th percentile was almost at the limit of statistical significance (8.72% for the study group vs 4.65% for the control group; p = 0.097). At one-year post-surgery follow-up, 10 of 15 children with height-for-age ≤ 5th percentile had achieved catch-up growth (66.6%), and 14 of 24 children with height- and/or weight-for-age ≤ 5th percentile had normalized growth (58.33%). For children with failure to thrive or who have growth failure, physicians should consider the possibility of obstructive sleep apnea. A significant number of children with obstructive sleep apnea concurrent with growth failure could benefit from

  5. Relation between Hormonal Disorders and Components of Metabolic Syndrome in Patients with Primary Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Т.Yu. Yuzvenko

    2016-09-01

    Full Text Available During the last decade plenty of the researches dedicated to the problem of hypothyroidism were published, that radically changed views to the value of thyroid pathology on the whole. Neurohumoral changes are considered as a nosotropic factor of hypothyroidism development in persons with metabolic syndrome (MS. Aim of the research is to study the features of hormonal disorders and their correlation with the components of metabolic syndrome in patients with primary hypothyroidism. Materials and methods. The study involved 80 patients with primary hypothyroidism: 61 had metabolic syndrome and 19 did not have metabolic syndrome. Results. Statistically significant increased levels of leptin, insulin, cortisol, C-peptide were revealed in patients with hypothyroidism and metabolic syndrome while the most marked changes were found in patients with multiple metabolic abnormalities. Conclusions. The interrelations between hyperleptinemia and fasting glucose, glycated hemoglobin, insulin levels, thyroid-stimulating hormone, index HOMA were determined indicating the modulating role of chronic hyperglycemia, hormonal disorders and insulin resistance in the expression and realization of the biological action of leptin in patients with hypothyroidism and metabolic syndrome.

  6. Sick building syndrome

    International Nuclear Information System (INIS)

    Baechler, M.C.; Hadley, D.L.; Marseille, T.J.; Stenner, R.D.; Peterson, M.R.; Naugle, D.F.; Berry, M.A.

    1991-01-01

    This book discusses the aspect of indoor air pollution referred to as sick building syndrome. Covered are sources and health effects of various indoor air pollutants, and methods for mitigation of the problem, plus suggested analytical methods for environmental carcinogens found in indoor air

  7. A fast method for the unit scheduling problem with significant renewable power generation

    International Nuclear Information System (INIS)

    Osório, G.J.; Lujano-Rojas, J.M.; Matias, J.C.O.; Catalão, J.P.S.

    2015-01-01

    Highlights: • A model to the scheduling of power systems with significant renewable power generation is provided. • A new methodology that takes information from the analysis of each scenario separately is proposed. • Based on a probabilistic analysis, unit scheduling and corresponding economic dispatch are estimated. • A comparison with others methodologies is in favour of the proposed approach. - Abstract: Optimal operation of power systems with high integration of renewable power sources has become difficult as a consequence of the random nature of some sources like wind energy and photovoltaic energy. Nowadays, this problem is solved using Monte Carlo Simulation (MCS) approach, which allows considering important statistical characteristics of wind and solar power production such as the correlation between consecutive observations, the diurnal profile of the forecasted power production, and the forecasting error. However, MCS method requires the analysis of a representative amount of trials, which is an intensive calculation task that increases considerably with the number of scenarios considered. In this paper, a model to the scheduling of power systems with significant renewable power generation based on scenario generation/reduction method, which establishes a proportional relationship between the number of scenarios and the computational time required to analyse them, is proposed. The methodology takes information from the analysis of each scenario separately to determine the probabilistic behaviour of each generator at each hour in the scheduling problem. Then, considering a determined significance level, the units to be committed are selected and the load dispatch is determined. The proposed technique was illustrated through a case study and the comparison with stochastic programming approach was carried out, concluding that the proposed methodology can provide an acceptable solution in a reduced computational time

  8. Postural tachycardia syndrome and other forms of orthostatic intolerance in Ehlers-Danlos syndrome.

    Science.gov (United States)

    Roma, Maria; Marden, Colleen L; De Wandele, Inge; Francomano, Clair A; Rowe, Peter C

    2018-03-05

    To review the association between orthostatic intolerance syndromes and both joint hypermobility and Ehlers-Danlos syndrome, and to propose reasons for identifying hereditary connective tissue disorders in those with orthostatic intolerance in the context of both clinical care and research. We searched the published peer-reviewed medical literature for papers reporting an association between joint hypermobility or Ehlers-Danlos syndrome and orthostatic intolerance. We identified 10 relevant papers. Although methodological variability between studies introduces some limitations, the published literature consistently identifies a significantly higher prevalence of orthostatic intolerance symptoms in patients with joint hypermobility or Ehlers-Danlos syndrome than in healthy controls, and a significantly higher prevalence of cardiovascular and autonomic abnormalities both at rest and during orthostatic challenge. Postural tachycardia syndrome is the most commonly recognized circulatory disorder. The severity of orthostatic symptoms in those with EDS correlates with impairments in quality of life. There is a strong association between several forms of cardiovascular dysfunction, most notably postural tachycardia syndrome, and joint hypermobility or Ehlers-Danlos syndrome. We propose that recognition of joint hypermobility and Ehlers-Danlos syndrome among those with orthostatic intolerance syndromes has the potential to improve clinical care and the validity of research findings. Copyright © 2018 Elsevier B.V. All rights reserved.

  9. The significance of determination of renal tubular markers before and after treatment in the primary nephrotic syndrome

    International Nuclear Information System (INIS)

    Xie Bing; Jiang Liping

    2011-01-01

    Objective: To evaluate the damage of renal tubule of patients with primary nephrotic syndrome (PNS) by detecting renal tubule markers and investigate the significance of different therapeutic effects. Methods: Serum levels of interleukin-6(IL-6), ET-1, α 1 -microglobulin(α 1 -m), β 2 -microglobulin(β 2 -m) and plasma level of ET-1 were determined with RIA, fibrinogen degradation product (FDP) with ELISA, automatic biochemistry analysis N-acetyl-β-D-glucosaminidase(NAG), CH 2 O was determined with physico-method respectively. Results: The concentrations of IL-6, ET-1, α 1 -m, β 2 -m, FDP, NAG were significantly decreased in cases of complete remission after therapy (P 2 O excepted (P>0.05), the decrease of IL-6, ET-1, α 1 -m, FDP were no significant in cases of invalid (P>0.05), the concentrations of renal tubule markers in cases of partial remission and invalid were higher than those in cases of complete and significant remission. Conclusion: The determination of several renal tubule markers can be used for diagnose, monitor and judge the therapeutic effects of PNS. (authors)

  10. Pathophysiology, prognostic significance and clinical utility of B-type natriuretic peptide in acute coronary syndromes.

    Science.gov (United States)

    Wiviott, Stephen D; de Lemos, James A; Morrow, David A

    2004-08-16

    The natriuretic hormones are a family of vasoactive peptides that can be measured circulating in the blood. Because they serve as markers of hemodynamic stress, the major focus of the use of natriuretic peptide levels [predominantly B-type natriuretic peptide (BNP) and N-terminal (NT)-pro-BNP] has been as an aid to the clinical diagnosis and management of congestive heart failure (CHF). Recently, however, the measurement of natriuretic peptides in the acute coronary syndromes (ACS) has been shown to provide information complementary to traditional biomarkers (of necrosis) such as cardiac troponins and creatine kinase (CK). Studies in several types of acute coronary syndromes [ST-segment elevation myocardial infarction (STEMI), non-ST elevation MI (NSTEMI) and unstable angina (UA)] have shown that elevated levels of natriuretic peptides are independently associated with adverse outcomes, particularly mortality. Additional information is obtained from the use natriuretic peptides in combination with other markers of risk including biomarkers of necrosis and inflammation. This review will summarize the scientific rationale and clinical evidence supporting measurement of natriuretic peptides for risk stratification in acute coronary syndromes. Future research is needed to identify therapies of particular benefit for patients with ACS and natriuretic peptide elevation.

  11. Possible predictors of depressive syndrome in patients with chronic obstructive pulmonary disease.

    Directory of Open Access Journals (Sweden)

    T. O. Pertseva

    2018-05-01

    Full Text Available Recently, the problem of depressive syndrome in COPD patients often attracts the attention of doctors and scientists. It is important to study the relationship between the presence of the depressive syndrome, on the one hand, and the clinical and functional characteristics of COPD patients on the other, in order to determine the categories of patients inclined to develop a depressive syndrome. The purpose of the study: to determine the relationship between the presence of depressive syndrome in COPD patients with the severity of their clinical symptoms of COPD and the level of functional impairments. 52 COPD patients of clinical groups C and D were examined. Depending on the presence of depressive syndrome patients were divided into two subgroups: a subgroup 1 – 15 COPD patients with concomitant depressive syndrome, a subgroup 2 – 37 people without it. The examination included general clinical and functional methods. It was determined that the development of depressive syndrome in COPD patients can be affected by the high severity of clinical symptoms of COPD in general, decreased tolerance to physical activity, long duration of the disease, poor quality of life. At the same time, the levels of functional indicators, in particular, OFV1 and SpO2, may not have a significant relationship with the occurrence of depressive syndrome, even in patients with severe COPD.

  12. [[How to Prevent Emotional Burnout Syndrome in Health Professionals?].

    Science.gov (United States)

    Elfimova, E V; Elfimov, M A; Berezkin, A S

    2016-01-01

    Working in conditions of physical and psychological overload, occupational hazard makes health workers vulnerable to the development of burnout syndrome. Currently, 67.6% of physicians in Russia suffer from emotional burnout syndrome. This syndrome is characterized by a certain symptoms, which have their predictors. Prevention and treatment of emotional burnout syndrome - a complex problem that can be solved with the participation of heads of medical institutions, full- time psychologists and psychotherapists with the direct involvement of health professionals.

  13. Living with Ehlers-Danlos syndrome

    OpenAIRE

    Berglund, Britta

    2003-01-01

    This thesis focuses on how individuals with the Ehlers-Danlos syndrome (EDS), an inherited connective-tissue disorder, experience and describe their daily lives with focus on physical and psychosocial problems. The syndrome primarily affects the skin, ligaments, joints and blood vessels and the symptoms in EDS vary from mild to more severe forms. Individuals with EDS were recruited via the Swedish National EDS Association. Paper (I). The aim was to explore how individuals wi...

  14. Celiac disease in patients with Williams-Beuren syndrome.

    Science.gov (United States)

    Mıhçı, Ercan; Nur, Banu Güzel; Berker-Karaüzüm, Sibel; Yılmaz, Aygen; Artan, Reha

    2015-01-01

    Celiac disease is an autoimmune, gastrointestinal disorder characterized by intolerance to the dietary grain protein gluten. An increased prevalence of celiac disease has been reported in Down syndrome and Turner syndrome, but there has been only few previous reports with respect to the association of celiac disease in Williams-Beuren syndrome. The aim of this study was to evaluate the frequency of celiac disease in our 24 Williams-Beuren syndrome patients. Gastrointestinal problems and celiac disease symptoms of patients were noted. All patients were analyzed by the titer of tissue transglutaminases IgA and IgG. HLA genotyping and intestinal biopsy was performed to the patients with positive serology. We also performed gluten free diet in the presence of compatible symptoms, serology, HLA genotyping and intestinal biopsy. In our study, two patients had positive tTG antibodies, but only one had positive biopsy finding for celiac disease. The frequency of celiac disease in patients with Williams-Beuren syndrome was estimated as 1/24 (4.1%). Though the number of participants in this study was limited, the results show that the frequency of celiac disease is higher in Williams-Beuren syndrome compared to the general population. We suggest that a high suspicion and testing for celiac disease should be recommended at certain intervals in all cases with Williams-Beuren syndrome to detect the cause of growth retardation and gastrointestinal problems.

  15. Hirsutism, Acne, and Hair Loss: Management of Hyperandrogenic Cutaneous Manifestations of Polycystic Ovary Syndrome

    Directory of Open Access Journals (Sweden)

    Cenk Yasa

    2017-08-01

    Full Text Available PPolycystic ovary syndrome is the most common endocrine abnormality that affects reproductive-aged women. Diagnostic criteria of polycystic ovary syndrome have been established by different societies in recent years, and hyperandrogenism remains as one of the main criteria for diagnosis. Cutaneous manifestations of hyperandrogenism include hirsutism, acne and androgenic alopecia and are commonly observed in women with polycystic ovary syndrome. The major determinants of cutaneous manifestations are increased production of androgen and increased tissue availability. Cutaneous manifestations of hyperandrogenism are cosmetic problems, which produce significant emotional distress and psychological morbidity. Treatment includes a combination of combined oral contraceptives, antiandrogens, insulin sensitizers, gonadotropin releasing hormone agonists, topical medications, and cosmetic procedures. The diagnosis, management, and treatment approaches are described in detail in this review.

  16. Does vitamin D affects components of the metabolic syndrome?

    OpenAIRE

    Sevil Karahan Yılmaz; Aylin Ayaz

    2015-01-01

    Metabolic syndrome is a major public health problem which has become increasingly common worlwide with cardiometabolic complications and have high morbidity and mortality. In addition to some genetical features, environmental factors such sedentary lifestyle, improper eating habits constitutes a risk factor for metabolic syndrome. Important components of the metabolic syndrome are dyslipidemia (low HDL levels, high triglycerides level), hyperglycemia, elevated blood...

  17. Poland’s syndrome

    Directory of Open Access Journals (Sweden)

    Olga E. Agranovich

    2017-03-01

    Full Text Available Poland’s syndrome is a rare congenital condition classically characterized by partial or complete absence of chest muscles on one side of the body and usually webbing of the fingers of the hand on the same side. There may also be rib (aplasia or hypoplasia and chest bone abnormalities, which may be noticeable due to less fat under the skin. Breast and nipple abnormalities may also occur, and underarm hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland’s syndrome most often affects the right side of the body and occurs more frequently in males than in females. The etiology is unknown; however, interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries is the prevailing theory. There are many methods of operative correction because of the polymorphic clinical features of this syndrome. We gathered data on the etiology, pathogenesis, and clinical presentation of Poland’s syndrome and reviewed the existing surgical treatment options.

  18. Diagnosing Alzheimer's Dementia in Down Syndrome: Problems and Possible Solutions

    Science.gov (United States)

    Nieuwenhuis-Mark, Ruth E.

    2009-01-01

    It is widely accepted that people with Down syndrome are more likely than the general population to develop Alzheimer's dementia as they age. However, the diagnosis can be problematic in this population for a number of reasons. These include: the large intra-individual variability in cognitive functioning, the different diagnostic and…

  19. [Mania associated with Usher syndrome type II].

    Science.gov (United States)

    Praharaj, Samir Kumar; Acharya, Mahima; Sarvanan, Arul; Kongasseri, Sreejayan; Behere, Rishikesh V; Sharma, P S V N

    2012-01-01

    Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and mental retardation; however, bipolar disorder is not common in those with Usher syndrome. Herein we describe a 30-year-old male with Usher syndrome type II that developed features indicative of a probable manic episode. The patient had complete remission of symptoms in response to treatment with olanzapine 20 mg d-1. In persons with dual sensory impairment there are inherent problems with assessment and diagnosis is difficult due to their limited communication abilities. The diagnosis of Usher syndrome depends heavily on behavioral observation and disturbances in vegetative functions.

  20. Asthma-COPD overlap syndrome: recent advances in diagnostic criteria and prognostic significance.

    Science.gov (United States)

    Sorino, Claudio; Scichilone, Nicola; D'Amato, Maria; Patella, Vincenzo; DI Marco, Fabiano

    2017-06-01

    The term asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) has been proposed for individuals with features of both asthma and COPD. Several attempts have been done to define ACOS on the basis of medical history, symptoms, and functional findings. The main diagnostic criteria include airflow obstruction with a strong although incomplete reversibility to bronchodilation tests, a significant exposure to cigarette or biomass smoke, and a history of atopy or asthma. Additional diagnostic elements include eosinophilic airway and systemic inflammation, a good response to corticosteroid treatment, and a high concentration of exhaled nitric oxide. ACOS should be distinguished from asthma with not fully reversible bronchial obstruction due to airway remodeling, thus the lack of smoking exposure should exclude the diagnosis of ACOS. In patients without a documented history of asthma before 40 years of age, an increase in FEV1 after bronchodilator >400 mL should be required to diagnose ACOS. ACOS has been found to be associated with impaired physical performance, functional ability, and health-related quality of life. The prevalence of ACOS increases with aging, then it is relatively stable in elderly individuals (>65 years). Long-term mortality of subjects with ACOS is similar to COPD, and worse than asthma and healthy controls. Future research is still needed to improve the understanding and management of ACOS.

  1. Metabolic syndrome and the risk of adverse cardiovascular events after an acute coronary syndrome.

    Science.gov (United States)

    Cavallari, Ilaria; Cannon, Christopher P; Braunwald, Eugene; Goodrich, Erica L; Im, KyungAh; Lukas, Mary Ann; O'Donoghue, Michelle L

    2018-05-01

    Background The incremental prognostic value of assessing the metabolic syndrome has been disputed. Little is known regarding its prognostic value in patients after an acute coronary syndrome. Design and methods The presence of metabolic syndrome (2005 International Diabetes Federation) was assessed at baseline in SOLID-TIMI 52, a trial of patients within 30 days of acute coronary syndrome (median follow-up 2.5 years). The primary endpoint was major coronary events (coronary heart disease death, myocardial infarction or urgent coronary revascularization). Results At baseline, 61.6% ( n = 7537) of patients met the definition of metabolic syndrome, 34.7% (n = 4247) had diabetes and 29.3% had both ( n = 3584). The presence of metabolic syndrome was associated with increased risk of major coronary events (adjusted hazard ratio (adjHR) 1.29, p metabolic syndrome was numerically but not significantly associated with the risk of major coronary events (adjHR 1.13, p = 0.06). Conversely, diabetes was a strong independent predictor of major coronary events in the absence of metabolic syndrome (adjHR 1.57, p metabolic syndrome identified patients at highest risk of adverse outcomes but the incremental value of metabolic syndrome was not significant relative to diabetes alone (adjHR 1.07, p = 0.54). Conclusions After acute coronary syndrome, diabetes is a strong and independent predictor of adverse outcomes. Assessment of the metabolic syndrome provides only marginal incremental value once the presence or absence of diabetes is established.

  2. [On establishing comparative reference system for syndrome classification study from the thinking characteristics of syndrome differentiation dependent therapy].

    Science.gov (United States)

    Liu, Ping; Hu, Yi-yang; Ni, Li-qiang

    2006-05-01

    To create a comparative referential system for syndrome classification study by viewing from the thinking characteristics of TCM on syndrome differentiation dependent therapy (SDDT), through analyzing the thinking process of SDDT, and the basic features of disease, syndrome and prescription, combining the basic principles of modern evidence-based medicine and feasibility of establishing integrative disease-syndrome animal model. The practice of creating a comparative referential system based on clinical efficacy of prescription was discussed around syndrome pathogenesis and its relationship with disease and prescription, which was one of the important scientific problems in TCM syndrome study. The authors hold that, it may be one of the available approaches for the present study on integration of disease with syndrome by way of insisting on the thinking pathway of stressing the characteristics of TCM and intermerging with modern scientific design; on taking the efficacy of prescription as the comparative reference system to accumulate and improve unceasingly according to the TCM method of syndrome diagnosis inferred from effect of prescription with reverse thought (i.e., to differentiate syndrome from the effect of prescription), and thus build up the syndrome diagnostic standard on the solid clinical and scientific base.

  3. [The problems of diagnosis and correction of autism in children (an example of Asperger's syndrome)].

    Science.gov (United States)

    Iovchuk, N M; Severnyĭ, A A

    Based on the analysis of literature and own clinical experience, we discuss diagnostic issues of early autistic disorders in children. Main differential-diagnostic signs that permit to differentiate mild forms of autism in childhood diagnosed as Asperger's syndrome from childhood schizophrenia, residual organic CNS damage, circular affective disorders are described. Cases of Asperger's syndrome followed up for many years and recommendations for social and psychological adaptation of children and adolescents with Asperger's syndrome in different age periods are presented.

  4. Turner syndrome and meningioma: support for a possible increased risk of neoplasia in Turner syndrome.

    Science.gov (United States)

    Pier, Danielle B; Nunes, Fabio P; Plotkin, Scott R; Stemmer-Rachamimov, Anat O; Kim, James C; Shih, Helen A; Brastianos, Priscilla; Lin, Angela E

    2014-01-01

    Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  5. Neuropsychological findings associated with Panayiotopoulos syndrome in three children.

    Science.gov (United States)

    Hodges, Samantha L; Gabriel, Marsha T; Perry, M Scott

    2016-01-01

    Panayiotopoulos syndrome is a common idiopathic benign epilepsy that has a peak age of onset in early childhood. The syndrome is multifocal and shows significant electroencephalogram (EEG) variability, with occipital predominance. Although a benign syndrome often refers to the absence of neurological and neuropsychological deficits, the syndrome has recently been associated with cognitive impairments. Also, despite frequent occipital EEG abnormalities, research regarding the visual functioning of patients is less reported and often contradictory. The purpose of this study was to gain additional knowledge regarding the neurocognitive functioning of patients with Panayiotopoulos syndrome and specifically to address any visual processing deficits associated with the syndrome. Following diagnosis of the syndrome based on typical clinical and electrophysiological criteria, three patients, aged 5, 8, and 10years were referred by epileptologists for neuropsychological evaluation. Neuropsychological findings suggest that the patients had notable impairments on visual memory tasks, especially in comparison with verbal memory. Further, they demonstrated increased difficulty on picture memory suggesting difficulty retaining information from a crowded visual field. Two of the three patients showed weakness in visual processing speed, which may account for weaker retention of complex visual stimuli. Abilities involving attention were normal for all patients, suggesting that inattention is not responsible for these visual deficits. Academically, the patients were weak in numerical operations and spelling, which both rely partially on visual memory and may affect achievement in these areas. Overall, the results suggest that patients with Panayiotopoulos syndrome may have visual processing and visual memory problems that could potentially affect their academic capabilities. Identifying such difficulties may be helpful in creating educational and remedial assistance programs for

  6. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.

    2002-01-01

    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  7. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  8. Pelvic floor muscle problems mediate sexual problems in young adult rape victims.

    Science.gov (United States)

    Postma, Riemke; Bicanic, Iva; van der Vaart, Huub; Laan, Ellen

    2013-08-01

    Prior studies have addressed sexual abuse and sexual function in adult women. No studies have focused on the effect of adolescence rape on sexual functioning. To investigate the effect of rape on sexual problems and on pelvic floor problems, as well as the mediating role of pelvic floor problems on sexual problems, in a homogenous group of victims of adolescence rape without a history of childhood sexual, physical, and/or emotional abuse. Sexual functioning and pelvic floor functioning were assessed using self-report questionnaires. In this cross-sectional study, a group of 89 young women aged 18-25 years who were victimized by rape in adolescence was compared with a group of 114 nonvictimized controls. The rape victims were treated for posttraumatic stress disorder (PTSD) 3 years prior to participation in the study. Three years posttreatment, rape victims were 2.4 times more likely to have a sexual dysfunction (lubrication problems and pain) and 2.7 times more likely to have pelvic floor dysfunction (symptoms of provoked vulvodynia, general stress, lower urinary tract, and irritable bowel syndrome) than nonvictimized controls. The relationship between rape and sexual problems was partially mediated by the presence of pelvic floor problems. Rape victims and controls did not differ with regard to sexual activities. Rape victims suffer significantly more from sexual dysfunction and pelvic floor dysfunction when compared with nontraumatized controls, despite the provision of treatment for PTSD. Possibly, physical manifestations of PTSD have been left unaddressed in treatment. Future treatment protocols should consider incorporating (physical or psychological) treatment strategies for sexual dysfunction and/or pelvic floor dysfunction into trauma exposure treatments. © 2013 International Society for Sexual Medicine.

  9. Some Syndromes Among Suicidal People: The Problem of Suicide Potentiality.

    Science.gov (United States)

    Wold, Carl I.

    An on-going research project at the Los Angeles Suicide Prevention Center is attempting to describe the potential suicide. Comparisons on a rating scale were made among patients who commit suicide and a random sample of case histories from the coroner's office. Approximately 10 syndromes or subgroupings of people who commit suicide have been…

  10. Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome

    NARCIS (Netherlands)

    Freriks, K.; Timmermans, J.; Beerendonk, C.C.M.; Verhaak, C.M.; Netea-Maier, R.T.; Otten, B.J.; Braat, D.D.M.; Smeets, D.F.C.M.; Kunst, D.; Hermus, A.R.M.M.; Timmers, H.J.L.M.

    2011-01-01

    CONTEXT: Besides short stature and gonadal dysgenesis, Turner syndrome (TS) is associated with various abnormalities. Adults with TS have a reduced life expectancy, mainly related to structural abnormalities of the heart and aorta, and an increased risk of atherosclerosis. OBJECTIVE: Our objective

  11. The prevalence of premenstrual syndrome in young woman

    Directory of Open Access Journals (Sweden)

    Piotr Kozłowski

    2017-07-01

    Full Text Available Regular menstrual cycles reflect the condition of a woman's health. However, they are influenced by many external factors. Premenstrual Syndrome (PMS is a syndrome of somatic and mental symptoms including irritability, fatigue, irritability, depression, crying, self-deprecation, breast hypersensitivity, feeling water retention, diarrhea and constipation, headaches. These symptoms are most noticeable at the age of 25-35.             The aim of the study was to evaluate premenstrual syndrome prevalence in young, healthy women. The questioned women were also asked about education, age, premenstrual syndrome, oral contraceptives, pain during menstruation and the frequency of visits to a gynecologist. The study included 122 female participants. The age of participants ranged from 16 to 45 years. The study conducted in the period from January 2017 to April 2017 and it employed standardized interview research method. Research tool, which was used for data collection was a questionnaire consisted of 19 questions single-choice questions and 3 multiple-choice questions.. Statistical analysis was performed using the chi-square test. All values for which p <0.05 (probability of error were considered statistically significant. Respondents were asked about education, work and knowledge about eye diseases.             All respondents reported premenstrual symptoms, and 26.2% indicated that they felt PMS symptoms regularly or frequently (48.4%. 72.1% (p <0.05 of the questioned women considered that the most severe symptoms of PMS were psychological. Emotional depression affects 73.8% of respondents, the feeling of self-esteem affects or  anxious affects 52.5% of respondents. Concentration problems were reported by 23.8% of respondents. The most common somatic symptom of PMS was water retention (69.8%. Respondents also indicated that they have more problems with their complexion (45.9%.

  12. A single-blind trial of reflexology for irritable bowel syndrome.

    OpenAIRE

    Tovey, Philip

    2002-01-01

    BACKGROUND: Irritable bowel syndrome (IBS) is a significant problem for primary care, as treatment options are limited and it can frequently develop into a chronic condition. Complementary and alternative medicine, including reflexology, is being turned to increasingly in an attempt to manage symptoms. There are currently no studies which address the effectiveness of reflexology for IBS. Despite this, it continues to be advocated and used. AIM: To provide the first evidence on the effectivene...

  13. ‘Gas Syndrome’ - A Culture Bound Syndrome

    Directory of Open Access Journals (Sweden)

    Anil Kakunje

    2014-02-01

    Full Text Available Culture refers to the shared patterns of feelings, beliefs and behaviour that reflect in the way of living in a society. Culture uniquely influence the role functioning or psychosoical wellbeing of people living in a given society by exerting influence on their mind by their traditional health beliefs. Cultural factors influence understanding, presentation, diagnosis, management, course and outcome of many diseases, especially psychiatric disorders. Culture-bound syndromes seem to be episodic, dramatic and discrete patterns of behavioral reactions specific to a particular community that articulate both personal predicament and public concerns. Every culture provides explanations and causal attributions for somatic symptoms. One of the common complaints of persons coming to medical attention is ‘Gas’ or similar terminologies like ‘vayu’ etc. People attribute varied symptoms from abdominal discomfort, chest pain, headache, joint pains, back pain, somatic complaints to ‘Gas’. ‘Gas’ is reported to be the cause for the distress and the primary duty of the treating clinician is to relieve them of the gas. The problem of troubling Gas or vayu has been influencing Indian culture/tradition since ancient days. We do see a significant proportion of patients visiting varied specialists attributing all their problems to Gas. 'Gas Syndrome’ is proposed as a culture bound syndrome.

  14. Partial biotinidase deficiency associated with Coffin-Siris syndrome.

    Science.gov (United States)

    Burlina, A B; Sherwood, W G; Zacchello, F

    1990-06-01

    Coffin-Siris syndrome is an infrequent condition characterised by mental retardation, nail hypoplasia or absence with fifth digit involvement and feeding problems. In addition, sparse scalp hair and chronic intractable eczema has been described in this syndrome. We report a 26-month-old girl with the disease and partial biotinidase deficiency.

  15. The Marfan Syndrome. Fact Sheet [and] Physical Education and Activity Guidelines.

    Science.gov (United States)

    National Marfan Foundation, Port Washington, NY.

    This document consists of two brochures, the first explaining the Marfan Syndrome and a second providing guidelines for physical education and activity for people who have this syndrome are provided. The brochure on factual information about Marfan syndrome outlines the associated medical problems involving the cardiovascular system, the skeleton,…

  16. Effect of Morphine Withdrawal Syndrome on Cerebral Ischemia

    Directory of Open Access Journals (Sweden)

    Mohammad Allahtavakoli

    2011-01-01

    Full Text Available Objective(sOpioid abuse is still remained a major mental health problem, a criminal legal issue and may cause ischemic brain changes including stroke and brain edema. In the present study, we investigated whether spontaneously withdrawal syndrome might affect stroke outcomes.Materials and MethodsAddiction was induced by progressive incremental doses of morphine over 7 days. Behavioral signs of withdrawal were observed 24, 48 and 72 hr after morphine deprivation and total withdrawal score was determined. Cerebral ischemia was induced 18-22 hr after the last morphine injection by placing a natural clot into the middle cerebral artery (MCA. Neurological deficits were evaluated at 2, 24 and 48 hr after ischemia induction, and infarct size and brain edema were determined at 48 hr after stroke.ResultsMorphine withdrawal animals showed a significant increase in total withdrawal score and decrease of weight gain during the 72 hr after the last morphine injection. Compared to the addicted and control animals, infarct volume and brain edema were significantly increased in the morphine deprived animals (P< 0.05 at 48 hr after cerebral ischemia. Also, neurological deficits were higher in the morphine-withdrawn rats at 48 hr after stroke (P< 0.05. ConclusionOur data indicates that spontaneous withdrawal syndrome may worsen stroke outcomes. Further investigations are necessary to elucidate mechanisms of opiate withdrawal syndrome on stroke.

  17. Juvenile fibromyalgia syndrome. Interdisciplinary treatment

    Directory of Open Access Journals (Sweden)

    Hanna Siuchnińska

    2014-11-01

    Full Text Available Fibromyalgia syndrome (FM belongs to soft tissue pain syndromes of unknown cause, also referred to as “soft tissue rheumatism”. It is characterized by chronic widespread pain as well as additional symptoms such as fatigue, sleep and mood disturbance and cognitive problems. There is more and more data showing that this condition may start at a young age or even in childhood, adversely affecting development processes and resulting in dysfunctional social and family relationships. Because of the multifaceted character of fibromyalgia the efficient treatment of this disorder can be difficult and requires comprehensive care. This work reviews most recommended procedures used in integrated treatment programmes for juvenile fibromyalgia syndrome (JFM.

  18. Brachman de lange syndrome

    Directory of Open Access Journals (Sweden)

    Leena Verma

    2010-01-01

    Full Text Available Brachman de Lange syndrome or Cornelia de Lange syndrome (CdLS is a genetic disorder which can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. It is characterized by skeletal, craniofacial deformities, gastrointestinal and cardiac malformations. This syndrome is of rare occurrence and affects between 1/10,000 and 1/60,000 neonates. Diagnosis is based on the characteristic phenotype, in particular, a striking facial appearance, prenatal and postnatal growth retardation, various skeletal abnormalities, hypertrichosis, and developmental delay. Here, we present the case of a 13-year-old patient, with micrognathia, delayed eruption, multiple carious teeth, missing teeth and periodontal problems together, which had never been reported before. The father was also found to have the same missing teeth as the girl child.

  19. Self-reported stress among adolescent siblings of individuals with autism spectrum disorder and Down syndrome.

    Science.gov (United States)

    Shivers, Carolyn M; McGregor, Casey; Hough, Ashlea

    2017-11-01

    Despite the prevalence of studies showing increased stress among mothers of individuals with autism spectrum disorders, few studies have examined general stress among typically developing siblings. This study used an online survey to compare the levels of self-reported stress between adolescent siblings of individuals with autism spectrum disorder and Down syndrome. Sibling of individuals with autism reported significantly more overall stress than did siblings of individuals with Down syndrome, as well as more stress specifically attributed to the brother/sister with autism. The two groups did not differ on perceived social support from family and friends. In linear regression models, the disability group (autism vs Down syndrome) was significantly related to sibling stress above and beyond target child behavior problems, perceived social support, and demographic factors. These results help shed light on the daily experiences of adolescent siblings of individuals with autism and call for more research into potential interventions to address increased stress levels.

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

    Science.gov (United States)

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

    2014-08-01

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

  1. Novel syndrome of cataracts, retinitis pigmentosa, late onset deafness and sperm abnormalities: a new Usher syndrome subtype with X-linked inheritance?

    Science.gov (United States)

    Malekpour, Mahdi; Shahidi, Arash; Khorsandi Ashtiani, Mohammad Taghi; Motasaddi Zarandy, Masoud

    2007-07-15

    Tissues of the auditory, ocular and reproductive systems have some similarities in their protein families and structures. Consequently, syndromes comprising these systems are described. Hearing loss alone is a component of more than 400 known syndromes and is a common nonsyndromic congenital disorder. Here we describe a syndrome in five brothers with the distinctive presentation of late-onset progressive hearing loss, cataracts, retinitis pigmentosa, sperm motility and shape problems in a family from the Kurdish population in Iran. The clinical findings of these patients are presented in detail and compared to the classical Usher syndromes. (c) 2007 Wiley-Liss, Inc

  2. Cotard's syndrome and delayed diagnosis in Kashmir, India

    Science.gov (United States)

    Wani, Zaid A; Khan, Abdul W; Baba, Aijaz A; Khan, Hayat A; Wani, Qurat-ul Ain; Taploo, Rayeesa

    2008-01-01

    Cotard's syndrome is a rare syndrome, characterized by the presence of nihilistic delusions. The syndrome is typically related to depression and is mostly found in middle-aged or older people. A few cases have been reported in young people with 90% of these being females. We present a case of a young pregnant woman suffering from Cotard's syndrome. This is the first report of this syndrome in a pregnant woman. The case was diagnosed late, due to lack of awareness of psychiatric problems in primary care physicians resulting in undue suffering, loss of precious time and resources for the patient. Besides highlighting the rare combination of pregnancy and Cotard's syndrome this report delineates the difficulties faced by patients with such symptoms in a low resource setting. PMID:18271948

  3. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

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

  4. Complication amoebic liver abscess still a significant health problem ...

    African Journals Online (AJOL)

    Amoebic liver abscess still poses a serious clinical problem in tropical countries. Here we describe three complicated cases to illustrate the magnitude this disease condition could assume in the tropics. Limited access to health facilities as well as poverty and ignorance result in patients presenting late, often with ...

  5. The characteristics of the patients with Rett syndrome: Case series

    Directory of Open Access Journals (Sweden)

    Dutina Aleksandra

    2016-01-01

    Full Text Available Rett syndrome is a neurodevelopmental disorder caused by mutation in the gene MECP2 on the X chromosome. The main clinical characteristics are breathing disorders, epileptic seizures, scoliosis, walking disability and constipation with frequent growth failure and malnutrition. Our transversal study included 29 female patients with Rett syndrome treated in the Institute for Mother and Child Health Care ''Dr Vukan Čupić'' in Belgrade. The patients were anthropometrically measured by their height and weight and caluculating body mass index. The degree of scolisios, the frequency of epileptic seizures, walking ability and grade of respiratory dysfunction were assessed based on the clinical scales for disease severity estimation. The statistical data analysis was done in the software package PASW Statistics 18. The average age of the patients was 145.5±90.1 months. The average height was 125.2±22.1cm, the average weight 27.6±12.3kg, and the average body mass index was 16.6±3.5kg/m2. The average z scores for height, weight and BMI-for-age were statistically significantly lower in comparison to general population, which is given with negative z scores. There was the statistically significant negative coorelation between the age of patients and the average z scores for height-for-age (r=-0.464 p=0.011, weight-for-age (r=-0.433 p=0.019 and BMI-for-age (r=-0.433 p=0.019. The statistically significant negative coorelation was found between the degree of scoliosis and the average z scores for height and weight-for-age, but not with the average z score for BMI-for-age. The growth failure and malnutrition represent significant problems which are found in Rett syndrome. The detection of factors affecting the growth and nutrition in patients with Rett syndrome could greatly contribute to the improvement of the quality of life in the patients with Rett syndrome and perhaps lead to the correction of the approach of symptomatic and supportive therapy.

  6. 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.

  7. Fetal Alcohol Syndrome.

    Science.gov (United States)

    Zerrer, Peggy

    The paper reviews Fetal Alcohol Syndrome (FAS), a series of effects seen in children whose mothers drink alcohol to excess during pregnancy. The identification of FAS and its recognition as a major health problem in need of prevention are traced. Characteristics of children with FAS are described and resultant growth retardation, abnormal physical…

  8. Prune Belly Syndrome

    Directory of Open Access Journals (Sweden)

    Koyye Ravindranath Tagore

    2011-01-01

    Full Text Available Prune belly syndrome is a rare congenital disorder of the urinary system, characterized by a triad of abnormalities. The aetiology is not known. Many infants are either stillborn or die within the first few weeks of life from severe lung or kidney problems, or a combination of congenital anomalies.

  9. [Evidence-based therapy of polycystic ovarian syndrome].

    Science.gov (United States)

    Gődény, Sándor; Csenteri, Orsolya Karola

    2015-11-08

    Polycystic ovary syndrome is recognized as the most common hormonal and metabolic disorder likely to affect women. The heterogeneous endocrinopathy is characterized by clinical and/or biochemical hyperandrogenism, oligo- or amenorrhoea, anovulatory infertility, and polycystic ovarian morphology. The syndrome is often associated with obesity, hyperinsulinemia and adversely affects endocrine, metabolic, and cardiovascular health. The symptoms and complaint of the patients vary with age. To maximise health gain of the syndrome, adequate, evidence based effective, efficient and safe treatment is necessary. This article summarises the highest available evidence provided by studies, meta-analysis and systematic reviews about the therapeutical possibilities for treating obesity, hyperandrogenism, menstrual abnormalities, infertility and psychological problems related to polycystic ovary syndrome.

  10. Unilateral glaucoma in Sotos syndrome (cerebral gigantism).

    Science.gov (United States)

    Yen, M T; Gedde, S J; Flynn, J T

    2000-12-01

    To report a patient with unilateral glaucoma associated with Sotos syndrome. Sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. Case report. A 50 year-old man with the clinical features of Sotos syndrome presented with complaints of decreased vision in the left eye. Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. Intraocular pressure was lowered, and visual field loss was stabilized with topical medications. Sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.

  11. Religiosity as a factor protecting against problem behaviour in adolescence

    Directory of Open Access Journals (Sweden)

    Niewiadomska Iwona

    2015-12-01

    Full Text Available This article explores the question, to what degree religiosity contributes, as a protecting factor against a broad category of socially deviant adolescent and youth behaviours. It also tests the hypothesis that gender plays a moderating role in the relationship between religiosity and problem behaviour. It employs a modified version of the Problem Behaviour Syndrome Measure (PBSM, in concert with Jessor and Jessor’s conceptual work. It also makes use of the Duke Religion Index (DUREL to assess religiosity. The empirical study deals with a representative group of 960 students of upper-secondary schools in the Lubelskie province, Poland. The results were analyzed using canonical analysis and ANOVA. The achievements of the article are twofold. First, it identifies significant correlations between the different levels of religiosity among youth, and the occurrence and intensification of problem behaviours, particularly in regard to organized activity. Organized and intrinsic religiosity play principal protective roles, while the impact of personal religious practices is less significant. Secondly, while analyzing the moderating role of gender in the relationship between religiosity and the intensity of problem behaviour, it was found that gender does not have a significant interactive impact. An affirmative conclusion was confirmed in only two instances.

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

    Science.gov (United States)

    Ohseto, Hisashi; Ishikuro, Mami; Kikuya, Masahiro; Obara, Taku; Igarashi, Yuko; Takahashi, Satomi; Kikuchi, Daisuke; Shigihara, Michiko; Yamanaka, Chizuru; Miyashita, Masako; Mizuno, Satoshi; Nagai, Masato; Matsubara, Hiroko; Sato, Yuki; Metoki, Hirohito; Tachibana, Hirofumi; Maeda-Yamamoto, Mari; Kuriyama, Shinichi

    2018-04-01

    Metabolic syndrome and the presence of metabolic syndrome components are risk factors for cardiovascular disease (CVD). However, the association between personality traits and metabolic syndrome remains controversial, and few studies have been conducted in East Asian populations. We measured personality traits using the Japanese version of the Eysenck Personality Questionnaire (Revised Short Form) and five metabolic syndrome components-elevated waist circumference, elevated triglycerides, reduced high-density lipoprotein cholesterol, elevated blood pressure, and elevated fasting glucose-in 1322 participants aged 51.1±12.7years old from Kakegawa city, Japan. Metabolic syndrome score (MS score) was defined as the number of metabolic syndrome components present, and metabolic syndrome as having the MS score of 3 or higher. We performed multiple logistic regression analyses to examine the relationship between personality traits and metabolic syndrome components and multiple regression analyses to examine the relationship between personality traits and MS scores adjusted for age, sex, education, income, smoking status, alcohol use, and family history of CVD and diabetes mellitus. We also examine the relationship between personality traits and metabolic syndrome presence by multiple logistic regression analyses. "Extraversion" scores were higher in those with metabolic syndrome components (elevated waist circumference: P=0.001; elevated triglycerides: P=0.01; elevated blood pressure: P=0.004; elevated fasting glucose: P=0.002). "Extraversion" was associated with the MS score (coefficient=0.12, P=0.0003). No personality trait was significantly associated with the presence of metabolic syndrome. Higher "extraversion" scores were related to higher MS scores, but no personality trait was significantly associated with the presence of metabolic syndrome. Copyright © 2018 Elsevier Inc. All rights reserved.

  13. Abdominal obesity and metabolic syndrome: exercise as medicine?

    Science.gov (United States)

    Paley, Carole A; Johnson, Mark I

    2018-01-01

    Metabolic syndrome is defined as a cluster of at least three out of five clinical risk factors: abdominal (visceral) obesity, hypertension, elevated serum triglycerides, low serum high-density lipoprotein (HDL) and insulin resistance. It is estimated to affect over 20% of the global adult population. Abdominal (visceral) obesity is thought to be the predominant risk factor for metabolic syndrome and as predictions estimate that 50% of adults will be classified as obese by 2030 it is likely that metabolic syndrome will be a significant problem for health services and a drain on health economies.Evidence shows that regular and consistent exercise reduces abdominal obesity and results in favourable changes in body composition. It has therefore been suggested that exercise is a medicine in its own right and should be prescribed as such. This review provides a summary of the current evidence on the pathophysiology of dysfunctional adipose tissue (adiposopathy). It describes the relationship of adiposopathy to metabolic syndrome and how exercise may mediate these processes, and evaluates current evidence on the clinical efficacy of exercise in the management of abdominal obesity. The review also discusses the type and dose of exercise needed for optimal improvements in health status in relation to the available evidence and considers the difficulty in achieving adherence to exercise programmes. There is moderate evidence supporting the use of programmes of exercise to reverse metabolic syndrome although at present the optimal dose and type of exercise is unknown. The main challenge for health care professionals is how to motivate individuals to participate and adherence to programmes of exercise used prophylactically and as a treatment for metabolic syndrome.

  14. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  15. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-06-15

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

  16. [Obesity and metabolic syndrome in adolescents].

    Science.gov (United States)

    Cárdenas Villarreal, Velia Margarita; Rizo-Baeza, María M; Cortés Castell, Ernesto

    2009-03-01

    In spite of the lack of a uniform definition for metabolic syndrome in pediatry, recent studies have shown that it develops during childhood and is highly prevalent among children and adolescents who suffer from obesity. In light of the current epidemic of obesity in this age category in western countries, and specifically in Mexico, it becomes essential to know the means to prevent, detect and treat this syndrome. Nurses play an important role in promoting childhood health with regards to metabolic syndrome. To put into practice the strategies which resolve underlying problems related with this syndrome is a priority for the well-being of this age group. These strategies should include the application and management of public policies; the collaboration by health services, social services and schools; but, furthermore, the prevention and the management of this syndrome require a family commitment, while the changes in living habits benefit the entire family. This review article proposes to introduce prevention, diagnostic and treatment strategies which nursing personnel can carry out while dealing with metabolic syndrome in adolescents.

  17. The alcohol withdrawal syndrome.

    LENUS (Irish Health Repository)

    McKeon, A

    2008-08-01

    The alcohol withdrawal syndrome (AWS) is a common management problem in hospital practice for neurologists, psychiatrists and general physicians alike. Although some patients have mild symptoms and may even be managed in the outpatient setting, others have more severe symptoms or a history of adverse outcomes that requires close inpatient supervision and benzodiazepine therapy. Many patients with AWS have multiple management issues (withdrawal symptoms, delirium tremens, the Wernicke-Korsakoff syndrome, seizures, depression, polysubstance abuse, electrolyte disturbances and liver disease), which requires a coordinated, multidisciplinary approach. Although AWS may be complex, careful evaluation and available treatments should ensure safe detoxification for most patients.

  18. Genetics Home Reference: Meier-Gorlin syndrome

    Science.gov (United States)

    ... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Microcephaly Information Page Educational Resources (10 links) Boston Children's Hospital: Growth Problems Disease InfoSearch: Meier-Gorlin syndrome ...

  19. Short-term memory in Down syndrome: applying the working memory model.

    Science.gov (United States)

    Jarrold, C; Baddeley, A D

    2001-10-01

    This paper is divided into three sections. The first reviews the evidence for a verbal short-term memory deficit in Down syndrome. Existing research suggests that short-term memory for verbal information tends to be impaired in Down syndrome, in contrast to short-term memory for visual and spatial material. In addition, problems of hearing or speech do not appear to be a major cause of difficulties on tests of verbal short-term memory. This suggests that Down syndrome is associated with a specific memory problem, which we link to a potential deficit in the functioning of the 'phonological loop' of Baddeley's (1986) model of working memory. The second section considers the implications of a phonological loop problem. Because a reasonable amount is known about the normal functioning of the phonological loop, and of its role in language acquisition in typical development, we can make firm predictions as to the likely nature of the short-term memory problem in Down syndrome, and its consequences for language learning. However, we note that the existing evidence from studies with individuals with Down syndrome does not fit well with these predictions. This leads to the third section of the paper, in which we consider key questions to be addressed in future research. We suggest that there are two questions to be answered, which follow directly from the contradictory results outlined in the previous section. These are 'What is the precise nature of the verbal short-term memory deficit in Down syndrome', and 'What are the consequences of this deficit for learning'. We discuss ways in which these questions might be addressed in future work.

  20. Co-incidence of Turner syndrome and Duchenne muscular dystrophy - an important problem for the clinician.

    Science.gov (United States)

    Kaczorowska, Ewa; Zimowski, Janusz; Cichoń-Kotek, Monika; Mrozińska, Agnieszka; Purzycka, Joanna; Wierzba, Jolanta; Limon, Janusz; Lipska-Ziętkiewicz, Beata S

    Turner syndrome is a relatively common chromosomal disorder which affects about one in 2000 live born females. Duchenne muscular dystrophy is an X-linked recessive disorder affecting 1:3600 live born males. Considering the above, the coexistence of these two diseases may occur only anecdotally. Here, we report a 4 ½ year-old female with classical 45,X Turner syndrome who also had Duchenne muscular dystrophy caused by a point mutation in the dystrophin gene (c.9055delG). The patient showed the typical phenotype of Turner syndrome including distinctive dysmorphic features (short neck, low posterior hairline, wide position of nipples), aortic coarctation and feet lymphedema. Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf muscular hypertrophy. The coexistence of an X-linked recessive disorder should be considered in women affected by Turner syndrome presenting with additional atypical clinical features.

  1. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

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

    2013-01-01

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

  2. Barr-Shaver-Carr Syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Mohammad Reza Kalantar Hormozi

    2010-04-01

    Full Text Available There are different subtypes of Kline Felter syndrome which 48, XXXY is called Barr-Shaver-Carr syndrome. We present a 17 years old man who referred due to absence of puberty, micro penis decreased Intelligence quotient and also some other sign and symptoms. The presented case stresses performing of kariotype examination (chromosome analysis in the evaluation of patient with such problems.

  3. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

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

  4. Research on culture-bound syndromes: new directions.

    Science.gov (United States)

    Guarnaccia, P J; Rogler, L H

    1999-09-01

    The unprecedented inclusion of culture-bound syndromes in DSM-IV provides the opportunity for highlighting the need to study such syndromes and the occasion for developing a research agenda to study them. The growing ethnic and cultural diversity of the U.S. population presents a challenge to the mental health field to develop truly cross-cultural approaches to mental health research and services. In this article, the authors provide a critique of previous analyses of the relationship between culture-bound syndromes and psychiatric diagnoses. They highlight the problems in previous classificatory exercises, which tend to focus on subsuming the culture-bound syndromes into psychiatric categories and fail to fully investigate these syndromes on their own terms. A detailed research program based on four key questions is presented both to understand culture-bound syndromes within their cultural context and to analyze the relationship between these syndromes and psychiatric disorders. Results of over a decade of research on ataques de nervios, a Latino-Caribbean cultural syndrome, are used to illustrate this research program. The four questions focus on the nature of the phenomenon, the social-cultural location of sufferers, the relationship of culture-bound syndromes to psychiatric disorders, and the social and psychiatric history of the syndrome in the life course of the sufferer.

  5. Applied cognitive behavioral analysis as an effective tool for the development of communication skills and problem solving behavior in adolescents diagnosed with Asperger Syndrome

    OpenAIRE

    Spilka, Ivo

    2013-01-01

    This Rigorosum Thesis work puts mind to questions how to effectively work with adolescents they were diagnosed with Aspereger's Syndrome. Based on author-led concrete development project, it proves the high efficiency of cognitive behavior techniques for the social learning and the training and improvement of communication skills or additionally for problem behavior solving. Together with those frequently used tools it shows other opportunities how to raise efficiency - especially of Kaizen p...

  6. Aspects involved in the (patho)physiology of the metabolic syndrome

    NARCIS (Netherlands)

    Duivenvoorden, Ilse

    2006-01-01

    The metabolic syndrome is an increasing problem in our Western society. Many of the features of the metabolic syndrome, like obesity, insulin resistance, dyslipidemia, and hepatic steatosis are established risk factors for cardiovascular disease. Growing evidence supports the important role of body

  7. Metabolic syndrome and menopause

    Directory of Open Access Journals (Sweden)

    Jouyandeh Zahra

    2013-01-01

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

  8. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors.

    Science.gov (United States)

    Bathen, Trine; Velvin, Gry; Rand-Hendriksen, Svend; Robinson, Hilde Stendal

    2014-08-01

    This study aims to investigate how fatigue affects adults with verified Marfan syndrome (MFS) in their daily lives, by examining fatigue levels and prevalence of severe fatigue compared to the general Norwegian population and individuals with other comparable chronic conditions. We investigated associations between socio-demographic characteristics, Marfan-related health problems, pain and fatigue. A cross-sectional study was conducted, using a postal questionnaire including the Fatigue Severity Scale (FSS) and questions on socio-demographic characteristics, Marfan-related health problems and pain. One hundred seventeen persons with MFS were invited to participate, 73 answered (62%). Participants reported significantly higher FSS scores and prevalence of severe fatigue compared to the general Norwegian population and patients with rheumatoid arthritis (RA), but lower than for other chronic conditions. Participants with chronic pain reported higher fatigue scores than those without chronic pain. Participants on disability benefits reported higher fatigue scores than participants who were working or enrolled in higher education. Marfan-related health problems like aortic dissection and use of blood pressure medication were not significantly associated with fatigue. In multivariable regression analyses chronic pain and employment status were significantly associated with fatigue. The final multivariable model explained 24% of the variance in fatigue scores. Our results show that fatigue is common in MFS patients and that it interferes with their daily lives. Chronic pain and employment status show significant associations to fatigue. This implies that fatigue is important to address when meeting MFS patients in clinical practice. There is need for more research on fatigue in Marfan syndrome. © 2014 Wiley Periodicals, Inc.

  9. Intellectual, behavioral, and emotional functioning in children with syndromic craniosynostosis.

    Science.gov (United States)

    Maliepaard, Marianne; Mathijssen, Irene M J; Oosterlaan, Jaap; Okkerse, Jolanda M E

    2014-06-01

    To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning.

  10. Measurement of serum leptin levels in polycystic ovary syndrome with hyperandrogenemia and its significance

    International Nuclear Information System (INIS)

    Wang Yande; Zhang Zhiping; Lu Gen; Luo Beilei

    2002-01-01

    Objective: To investigate the serum leptin concentration in polycystic ovary syndrome (PCOS) with hyperandrogenemia (HA) and its relationship with testosterone (T) level and body mass index (BMI). Methods: Serum leptin levels were measured by radioimmunoassay in 53 patients with PCOS, in which 36 cases were of the in non-obesity group and 17 cases in obese group. 30 non-obese cases and 20 obese cases without PCOS served as controls. Results: The levels of leptin in PCOS with HA in obese and non-obese group were significantly higher than those in control group (all p < 0.01). There was a positive correlation between serum leptin levels and testosterone levels in both groups (r = 0.51, p < 0.01 and r = 0.58, p < 0.01). No correlation existed between serum leptin levels and body mass index (BMI) in PCOS patients of non-obese group but there was positive correlation in obesity group (r = 0.56, p < 0.01). Conclusion: High serum leptin levels is one of the characteristic in PCOS patients. The HA in PCOS patients is related to serum leptin levels and heavyweight or obese patients have the phenomenon of leptin resistance

  11. Compression stockings significantly improve hemodynamic performance in post-thrombotic syndrome irrespective of class or length.

    Science.gov (United States)

    Lattimer, Christopher R; Azzam, Mustapha; Kalodiki, Evi; Makris, Gregory C; Geroulakos, George

    2013-07-01

    Graduated elastic compression (GEC) stockings have been demonstrated to reduce the morbidity associated with post-thrombotic syndrome. The ideal length or compression strength required to achieve this is speculative and related to physician preference and patient compliance. The aim of this study was to evaluate the hemodynamic performance of four different stockings and determine the patient's preference. Thirty-four consecutive patients (40 legs, 34 male) with post-thrombotic syndrome were tested with four different stockings (Mediven plus open toe, Bayreuth, Germany) of their size in random order: class 1 (18-21 mm Hg) and class II (23-32 mm Hg), below-knee (BK) and above-knee thigh-length (AK). The median age, Venous Clinical Severity Score, Venous Segmental Disease Score, and Villalta scale were 62 years (range, 31-81 years), 8 (range, 1-21), 5 (range, 2-10), and 10 (range, 2-22), respectively. The C of C0-6EsAs,d,pPr,o was C0 = 2, C2 = 1, C3 = 3, C4a = 12, C4b = 7, C5 = 12, C6 = 3. Obstruction and reflux was observed on duplex in 47.5% legs, with deep venous reflux alone in 45%. Air plethysmography was used to measure the venous filling index (VFI), venous volume, and time to fill 90% of the venous volume. Direct pressure measurements were obtained while lying and standing using the PicoPress device (Microlab Elettronica, Nicolò, Italy). The pressure sensor was placed underneath the test stocking 5 cm above and 2 cm posterior to the medial malleolus. At the end of the study session, patients stated their preferred stocking based on comfort. The VFI, venous volume, and time to fill 90% of the venous volume improved significantly with all types of stocking versus no compression. In class I, the VFI (mL/s) improved from a median of 4.9 (range, 1.7-16.3) without compression to 3.7 (range, 0-14) BK (24.5%) and 3.6 (range, 0.6-14.5) AK (26.5%). With class II, the corresponding improvement was to 4.0 (range, 0.3-16.2) BK (18.8%) and 3.7 (range, 0.5-14.2) AK (24

  12. Metabolic syndrome in mental health and addiction treatment: a quantitative study.

    Science.gov (United States)

    Flynn, M; Houtjes, W; Merks, A; van Mierlo, A; van de Wetering, B

    2015-02-01

    Patients with mental illnesses have been found to shorter life expectancy due to an increased risk of heart disease. Some medication used to treat mental illnesses have been linked to weight gain and other physical change that make patients susceptible to heart disease. In order to reduce this risk it is important that health professionals regularly measure and monitor signs of these physical changes. This research has found that measuring both waist circumference and blood pressure of patients is a safe and reliable way to way to monitor patients. To identify if combined blood pressure and waist circumference measurements are reliable predictor of metabolic syndrome, a descriptive correlational design was used to examine the sensitivity and specificity of screening techniques used to detect metabolic syndrome. Data were collected regarding waist circumference, body mass index, blood pressure, fasting blood glucose, triglycerides and high-density lipoproteins. Blood pressure and waist circumference measurements demonstrated high significance, sensitivity and specificity as screening instruments for metabolic syndrome. Combined waist circumference and blood pressure measurements may be clinically useful for a quick and reliable detection of metabolic syndrome in patients with addiction and comorbid mental health problems. © 2014 John Wiley & Sons Ltd.

  13. An association between diet, metabolic syndrome and lower urinary ...

    African Journals Online (AJOL)

    Diet is a key factor in the aetiology of many diseases, including metabolic syndrome and lower urinary tract disorders. Metabolic syndrome is a growing and increasingly expensive health problem in both the developed and the developing world, with an associated rise in morbidity and mortality. On the other hand, lower ...

  14. The bleaching syndrome: manifestation of a post-colonial pathology ...

    African Journals Online (AJOL)

    The post-colonial root of African problems is directly related to skin color. Under the cloak of personal preference, light skin among African women has replaced dark skin as the native ideal. The aftermath is manifestation of the Bleaching Syndrome. Social Work professionals have overlooked the Bleaching Syndrome as ...

  15. Genetics Home Reference: Meckel syndrome

    Science.gov (United States)

    ... when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with ...

  16. Early diagnosis of Bardet-Biedl syndrome associated with obesity

    Directory of Open Access Journals (Sweden)

    2008-03-01

    Full Text Available One of the urgent problems of modern health care is the increase in the prevalence of obesity among children and adolescents. Late diagnosis and delayed initiation of treatment lead to serious complications such as hypertension, type 2 diabetes mellitus. At present there are quite rare syndromes associated with obesity: Prader-Willi syndrome, Bardet-Biedl, Alström. Bardet-Biedl syndrome, - a disease characterized by obesity central origin, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal dysfunction.

  17. Neonatal bartter syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  18. Is Late or Non-Payment a Significant Problem to Malaysian Contractors?

    OpenAIRE

    M.E. Che Munaaim; M.S. Mohd Danuri; H. Abdul-Rahman

    2007-01-01

    Some developed countries have drawn lip construction-specific statutory security of payment acts/legislations typically known as Construction Contracts Act to eliminate poor payment practices and to assist continuous uninterrupted construction works. Malaysia too cannot pretend not to have these problems. This paper presents findings of a study conducted amongst Malaysian contractors with the aims to determine the seriousness of late and non- payment problems; to identify the main causes and ...

  19. Is Late or Non-Payment a Significant Problem to Malaysian Contractors?

    Directory of Open Access Journals (Sweden)

    M.E. Che Munaaim

    2007-12-01

    Full Text Available Some developed countries have drawn lip construction-specific statutory security of payment acts/legislations typically known as Construction Contracts Act to eliminate poor payment practices and to assist continuous uninterrupted construction works. Malaysia too cannot pretend not to have these problems. This paper presents findings of a study conducted amongst Malaysian contractors with the aims to determine the seriousness of late and non- payment problems; to identify the main causes and effects of late and non-payment; and to identify ways to sustain the payment flows in the Malaysian construction industry. The study focused on contractual payments from the paymaster (government or private to the contractors. The main factors for late and nonpayment in the construction industry identified from the study include: delay in certification, paymaster's poor financial management, local culture/attitude, pay master's failure to implement good governance in business, underpayment of certified amounts by the pay master and the use of 'pay when paid' clauses in contracts. The research findings show that late and non-payment can create cash flow problems, stress and financial hardship on the contractors. Amongst the most appropriate solutions to overcome the problem of late and non-payment faced by local contractors include: a right to regular periodic payment, a right to a defined time frame (or payment and a right to a speedy dispute resolution mechanism. Promptness of submitting, processing, issuing interim payment certificates and honouring the certificates are extremely important issues in relation to progress payment claims. Perhaps, an increased sense of professionalism in construction industry could overcome some of the problems related to late and non- payment issues.

  20. Verbal Problem-Solving Difficulties in Autism Spectrum Disorders and Atypical Language Development

    Science.gov (United States)

    Alderson-Day, Ben

    2018-01-01

    Children with autism spectrum disorders (ASDs) adopt less efficient strategies than typically developing (TD) peers on the Twenty Questions Task (TQT), a measure of verbal problem-solving skills. Although problems with the TQT are typically associated with executive dysfunction, they have also been reported in children who are deaf, suggesting a role for atypical language development. To test the contribution of language history to ASD problem solving, TQT performance was compared in children with high-functioning autism (HFA), children with Asperger syndrome (AS) and TD children. The HFA group used significantly less efficient strategies than both AS and TD children. No group differences were evident on tests of question understanding, planning or verbal fluency. Potential explanations for differences in verbal problem-solving skill are discussed with reference to the development of inner speech and use of visual strategies in ASD. PMID:25346354

  1. MRI assessment of bronchial compression in absent pulmonary valve syndrome and review of the syndrome

    International Nuclear Information System (INIS)

    Taragin, Benjamin H.; Berdon, Walter E.; Prinz, B.

    2006-01-01

    Absent pulmonary valve syndrome (APVS) is a rare cardiac malformation with massive pulmonary insufficiency that presents with short-term and long-term respiratory problems secondary to severe bronchial compression from enlarged central and hilar pulmonary arteries. Association with chromosome 22.Q11 deletions and DiGeorge syndrome is common. This historical review illustrates the airway disease with emphasis on assessment of the bronchial compression in patients with persistent respiratory difficulties post-valvular repair. Cases that had MRI for cardiac assessment are used to illustrate the pattern of airway disease. (orig.)

  2. Lance-adams syndrome.

    Science.gov (United States)

    Shin, Jun-Hwa; Park, Jong Moon; Kim, A Ram; Shin, Hee Suk; Lee, Eun Shin; Oh, Min-Kyun; Yoon, Chul Ho

    2012-08-01

    It is not common for a patient who survives cardiac arrest to experience significant neurologic impairment such as acute and chronic post-hypoxic myoclonus, known as Lance-Adams syndrome. This syndrome is predominantly characterized by myoclonus that starts days to weeks after cardiopulmonary resuscitation in patients who regained consciousness. Although several cases of LAS were reported, the decisive treatment method has not been established. We report a 43 year old man with Lance-Adams syndrome who showed long-term improvement through treatment with anti-myoclonic agents and participation in a rehabilitation program.

  3. Behavioral problems and parenting style among Taiwanese children with autism and their siblings.

    Science.gov (United States)

    Gau, Susan Shur-Fen; Chou, Miao-Churn; Lee, Ju-Chin; Wong, Ching-Ching; Chou, Wen-Jiun; Chen, Ming-Fang; Soong, Wei-Tsuen; Wu, Yu-Yu

    2010-02-01

    The purpose of the present study was to investigate the behavioral problems and parenting style among children with autism and their siblings in an ethnic Chinese population. A total of 151 children with DSM-IV autistic disorder, aged 3-12, 134 siblings without autism, and 113 normally developing controls were recruited. Both parents reported their parenting styles and psychological status and mothers also reported children's behavioral problems. Children with autism had significantly more severe behavioral problems and obtained less affection and more overprotection and authoritarian controlling from their parents than the other two groups. Compared to the controls, unaffected siblings showed some behavioral problems, and obtained less maternal care. Withdrawal and attention, social, and thought problems were the most associated behavioral syndromes to distinguish children with autism from those without. In addition to children with autism, who have a wide range of behavioral problems and impaired parent-child interactions, their siblings may be at risk for such problems.

  4. Oral appliance therapy versus nasal continuous positive airway pressure in obstructive sleep apnoea syndrome: a randomised, placebo-controlled trial on self-reported symptoms of common sleep disorders and sleep-related problems.

    Science.gov (United States)

    Nikolopoulou, M; Byraki, A; Ahlberg, J; Heymans, M W; Hamburger, H L; De Lange, J; Lobbezoo, F; Aarab, G

    2017-06-01

    Obstructive sleep apnoea syndrome (OSAS) is associated with several sleep disorders and sleep-related problems. Therefore, the aim of this study was to compare the effects of a mandibular advancement device (MAD) with those of nasal continuous positive airway pressure (nCPAP) on self-reported symptoms of common sleep disorders and sleep-related problems in mild and moderate OSAS patients. In this randomised placebo-controlled trial, sixty-four OSAS patients (52·0 ± 9·6 years) were randomly assigned to an MAD, nCPAP or an intra-oral placebo appliance in a parallel design. All participants filled out the validated Dutch Sleep Disorders Questionnaire (SDQ) twice: one before treatment and one after six months of treatment. With 88 questions, thirteen scales were constructed, representing common sleep disorders and sleep-related problems. Linear mixed model analyses were performed to study differences between the groups for the different SDQ scales over time. The MAD group showed significant improvements over time in symptoms corresponding with 'insomnia', 'excessive daytime sleepiness', 'psychiatric sleep disorder', 'periodic limb movements', 'sleep apnoea', 'sleep paralysis', 'daytime dysfunction', 'hypnagogic hallucinations/dreaming', 'restless sleep', 'negative conditioning' and 'automatic behaviour' (range of P values: 0·000-0·014). These improvements in symptoms were, however, not significantly different from the improvements in symptoms observed in the nCPAP and placebo groups (range of P values: 0·090-0·897). It can be concluded that there is no significant difference between MAD and nCPAP in their positive effects on self-reported symptoms of common sleep disorders and sleep-related problems in mild and moderate OSAS patients. These beneficial effects may be a result of placebo effects. © 2017 John Wiley & Sons Ltd.

  5. Screening athletes with Down syndrome for ocular disease.

    Science.gov (United States)

    Gutstein, Walter; Sinclair, Stephen H; North, Rachel V; Bekiroglu, N

    2010-02-01

    Persons with Down syndrome are well known to have a high prevalence of vision and eye health problems, many of which are undetected or untreated primarily because of infrequent ocular examinations. Public screening programs, directed toward the pediatric population, have become more popular and commonly use letter or symbol charts. This study compares 2 vision screening methods, the Lea Symbol chart and a newly developed interactive computer program, the Vimetrics Central Vision Analyzer (CVA), in their ability to identify ocular disease in the Down syndrome population. Athletes with Down syndrome participating in the European Special Olympics underwent an ocular screening including history, auto-refraction, colour vision assessment, stereopsis assessment, motility assessment, pupil reactivity, and tonometry testing, as well as anterior segment and fundus examinations to evaluate for ocular disease. Visual acuity was tested with the Lea chart and CVA to evaluate these as screening tests for detecting ocular disease as well as significant, uncorrected refractive errors. Among the 91 athletes that presented to the screening, 79 (158 eyes) were sufficiently cooperative for the examination to be completed. Mean age was 26 years +/-10.8 SD. Significant, uncorrected refractive errors (>/=1.00 spherical equivalent) were detected in 28 (18%) eyes and ocular pathology in 51 (32%) eyes. The Lea chart sensitivity and specificity were 43% and 74%, respectively, for detecting ocular pathology and 58% and 100% for detecting uncorrected refractive errors. The CVA sensitivity and specificity were 70% and 86% for detecting pathology and 71% and 100% for detecting uncorrected refractive errors. This study confirmed the findings of prior studies in identifying a significant presence of uncorrected refractive errors and ocular pathology in the Down syndrome population. Screening with the Lea symbol chart found borderline sufficient sensitivity and specificity for the test to be used

  6. Chromosome 15q24 microdeletion syndrome

    Directory of Open Access Journals (Sweden)

    Magoulas Pilar L

    2012-01-01

    Full Text Available Abstract Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and obesity. Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. Karyotypes are typically normal, and the deletions were detected in these individuals by array comparative genomic hybridization (aCGH. The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR between paralogous low-copy repeats (LCRs. The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome. The deletion occurred as a de novo event in all of the individuals when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. Management

  7. Refeeding syndrome: problems with definition and management.

    Science.gov (United States)

    Crook, Martin A

    2014-01-01

    Refeeding syndrome (RFS) broadly encompasses a severe electrolyte disturbance (principally low serum concentrations of intracellular ions such as phosphate, magnesium, and potassium) and metabolic abnormalities in undernourished patients undergoing refeeding whether orally, enterally, or parenterally. RFS reflects the change from catabolic to anabolic metabolism. RFS sometimes is undiagnosed and unfortunately some clinicians remain oblivious to its presence. This is particularly concerning as RFS is a life-threatening condition, although it need not be so and early recognition reduces morbidity and mortality. Careful patient monitoring and multidiscipline nutrition team management may help to achieve this goal. The diagnosis of RFS is not facilitated by the fact that there is no universal agreement as to its definition. The presence of hypophosphatemia alone does not necessarily mean that RFS is present as there are many other causes for this, as discussed later in this article. RFS is increasingly being recognized in neonates and children. An optimal refeeding regimen for RFS is not universally agreed on due to the paucity of randomized controlled trials in the field. Copyright © 2014 Elsevier Inc. All rights reserved.

  8. Bertolotti's syndrome: a case report.

    Science.gov (United States)

    Mitra, Raj; Carlisle, Mark

    2009-01-01

    A case report and literature review is presented. To review relevant data for the management of Bertolotti's syndrome and to determine whether the transverse process-ilium articulation may be a pain generator. Bertolotti's syndrome is associated with axial low back pain secondary to arthritic changes; the pain generator in the disorder is unclear. We present a case report of symptomatic Bertolotti's syndrome managed with intra-articular steroid injections. A patient with Bertolotti's syndrome had significant relief of axial pain after steroid injection of the ilium-transverse process articulation. Steroid therapy may be a non-surgical alternative for the treatment of symptomatic Bertolotti's syndrome.

  9. An under-diagnosed geriatric syndrome: sleep disorders among older adults.

    Science.gov (United States)

    Tufan, Asli; Ilhan, Birkan; Bahat, Gulistan; Karan, Mehmet Akif

    2017-06-01

    Sleep disorders are commonly under-diagnosed in the geriatric population. We aimed to determine the prevalence of sleep problems among older adults admitted to the geriatrics out-patient clinic. Two hundred and three patients (136 female) older than 75 years of age were included in the study. Patients underwent comprehensive geriatric assessment, including identification of sleep problems using the Sleep Disturbance Scale, Rapid eye movement (REM) sleep behavior disorder (RBD) Single-Question Screen questionnaire (RBD1Q) and The Johns Hopkins Restless Leg Syndrome Severity Scale. Demographic and clinical data including age, sex, medications, comorbid diseases, body mass index and functional scores was noted. The mean age of the patients was 80.92±4.3 years. 35.5% of the patients had findings of REM-SBD and 32.5% of the patients had restless legs syndrome. Ninety-seven percent of the patients answered 'yes' to at least one of the sleep disturbance scale questions. There was no significant difference between male and female groups. We observed that sleep disorders were common among older adults. For this reason, the course and quality of sleep should be examined in all patients as a routine part of comprehensive geriatric assessment.

  10. Effects of Magnesium and Vitamin B6 on the Severity of Premenstrual Syndrome Symptoms

    Directory of Open Access Journals (Sweden)

    Elham Ebrahimi

    2012-11-01

    Full Text Available Introduction: The importance of resolving the problem of premenstrual syndrome for patients has been emphasized due to its direct and indirect economical effects on the society. The aim of the current study was to evaluate the effects of magnesium and vitamin B6 on the severity of premenstrual syndrome in patients referring to health centers affiliated to Isfahan University of Medical Sciences, Iran, during 2009-10. Methods: This two-stage double-blind clinical trial was conducted on 126 women who were randomly allocated into 3 groups to receive magnesium, vitamin B6, or placebo. The study was performed in 10 selected health centers in Isfahan and lasted for 4 months. To confirm premenstrual syndrome, the participants were asked to complete a menstrual diary for 2 months at home. Drug interventions were continued for two cycles and the results of before and after the intervention were compared. Results: The findings of this study showed that the mean scores of premenstrual syndrome significantly decreased after the intervention in all groups (p < 0.05. Conclusion: According to our findings, vitamin B6 and placebo had the most and least efficiency in improving the mean premenstrual syndrome score.

  11. Meier-Gorlin syndrome

    OpenAIRE

    de Munnik, Sonja A; Hoefsloot, Elisabeth H; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine V A M; Brunner, Han G; Jackson, Andrew P; Bongers, Ernie M H F

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia...

  12. Burnout Syndrome Among Hemodialysis and Peritoneal Dialysis Nurses.

    Science.gov (United States)

    Karakoc, Ayten; Yilmaz, Murvet; Alcalar, Nilufer; Esen, Bennur; Kayabasi, Hasan; Sit, Dede

    2016-11-01

    Burnout, a syndrome with 3 dimensions of emotional exhaustion, depersonalization, and reduction of personal accomplishment, is very common among hemodialysis nurses, while data are scarce regarding the prevalence of burnout syndrome (BS) among peritoneal dialysis (PD) nurses. This study aimed to assess and compare demographic and professional characteristics and burnout levels in hemodialysis and PD nurses, and to investigate factors that increase the level of burnout in dialysis nurses. A total of 171 nurses from 44 dialysis centers in Turkey were included in a cross-sectional survey study. Data were collected using a questionnaire defining the social and demographic characteristics and working conditions of the nurses as well as the Maslach Burnout Inventory for assessment of burnout level. There was no significant difference in the level of burnout between the hemodialysis and PD nurses groups. Emotional exhaustion and depersonalization scores were higher among the shift workers, nurses who had problems in interactions with the other team members, and those who wanted to leave the unit, as well as the nurses who would not attend training programs. In addition, male sex, younger age, limited working experience, more than 50 hours of working per week, and working in dialysis not by choice were associated with higher depersonalization scores. Personal accomplishment score was lower among the younger nurses who had problems in their interactions with the doctors, who would not regularly attend training programs, and who felt being medically inadequate. Improving working conditions and relations among colleagues, and also providing further dialysis education are necessary for minimizing burnout syndrome. Burnout reduction programs should mainly focus on younger professionals.

  13. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  14. [Prevalence of neurological disorders among children with Down syndrome].

    Science.gov (United States)

    Gaete, Beatriz; Mellado, Cecilia; Hernández, Marta

    2012-02-01

    Neurological disturbances are common problems in children with Down Syndrome (DS). To determine the prevalence of neurological disorders affecting children with Down Syndrome. Review of medical records of 253 children aged from 1 day to 23 years affected with DS, attended at a public hospital and a University clinic. The overall prevalence of neurological disorders was 38.7%. The most common problems were ocular motor disorders in 26% of cases and epilepsy in 12%. Neurological disorders are more common in children with DS than in the general population. Motor ocular disorders and epilepsy are the predominant disturbances detected.

  15. Genetics Home Reference: Mainzer-Saldino syndrome

    Science.gov (United States)

    ... The most common rod-cone dystrophy is called retinitis pigmentosa , and the vision problems in Mainzer-Saldino syndrome ... deposits of pigment in the retina from which retinitis pigmentosa gets its name are often not found in ...

  16. Oral appliance therapy versus nasal continuous positive airway pressure in obstructive sleep apnoea syndrome: a randomised, placebo-controlled trial on self-reported symptoms of common sleep disorders and sleep-related problems

    NARCIS (Netherlands)

    Nikolopoulou, M.; Byraki, A.; Ahlberg, J.; Heymans, M. W.; Hamburger, H. L.; de Lange, J.; Lobbezoo, F.; Aarab, G.

    2017-01-01

    Obstructive sleep apnoea syndrome (OSAS) is associated with several sleep disorders and sleep-related problems. Therefore, the aim of this study was to compare the effects of a mandibular advancement device (MAD) with those of nasal continuous positive airway pressure (nCPAP) on self-reported

  17. Clinical Syndromes Associated with Cardiovascular Diseases: A Review

    Directory of Open Access Journals (Sweden)

    Xing Sheng Yang, MD, PhD, FACC, FAHA

    2017-02-01

    Full Text Available In clinical practice, a variety of syndromes are associated with cardiovascular disease and have characteristic findings. Most of them are an autosomal dominant genetic disorder and have different types of cardiovascular abnormalities, including electrocardiographic conduction defects, arrhythmias, cardiomyopathy, vascular and valvular diseases, cardiac septal defects, and pulmonary problems. There is a growing need for physicians to pay more attention to these syndromes.

  18. [Severe rhabdomyolysis syndrome in the course of alcohol withdrawal syndrome and hyponatremia].

    Science.gov (United States)

    Majewska, Magdalena; Tchórz, Michał; Szponar, Jarosław; Radoniewicz-Chagowska, Anna; Kołodziej, Małgorzata

    2012-01-01

    Rhabdomyolysis and associated kidney failure is a medical problem, often faced by doctors working in the centers of toxicology. Its most common cause is mechanical damage to the muscles, but predisposing factors include a big group of other pathologies and clinical conditions, including: electrolyte imbalance, immobility, infections, drug or psychoactive substances poisoning. The article presents an example of a patient with severe rhabdomyolysis syndrome caused by an alcohol withdrawal syndrome. Based on our experience and scientific studies of other clinical centres the paper presents various causes of muscle damage, including the iatrogenic effects of ethanol intoxication treatment. The article explains the importance of a proper and quick treatment which prevents damage of internal organs, including kidney failure.

  19. Long-term memory for verbal and visual information in Down syndrome and Williams syndrome: performance on the Doors and People test.

    Science.gov (United States)

    Jarrold, Christopher; Baddeley, Alan D; Phillips, Caroline

    2007-02-01

    Previous studies have suggested that Williams syndrome and Down syndrome may be associated with specific short-term memory deficits. Individuals with Williams syndrome perform relatively poorly on tests of visuo-spatial short-term memory and individuals with Down syndrome show a relative deficit on verbal short-term memory tasks. However, these patterns of impairments may reflect the impact of generally impaired visuo-spatial processing skills in Williams syndrome, and verbal abilities in Down syndrome. The current study explored this possibility by assessing long-term memory among 15 individuals with Williams syndrome and 20 individuals with Down syndrome using the Doors and People test, a battery which assesses recall and recognition of verbal and visual information. Individuals' performance was standardised for age and level of intellectual ability with reference to that shown by a sample of 110 typically developing children. The results showed that individuals with Down syndrome have no differential deficits in long-term memory for verbal information, implying that verbal short-term memory deficits in this population are relatively selective. Instead both individuals with Down syndrome and with Williams syndrome showed some evidence of relatively poor performance on tests of long-term memory for visual information. It is therefore possible that visuo-spatial short-term memory deficits that have previously been demonstrated in Williams syndrome may be secondary to more general problems in visuo-spatial processing in this population.

  20. Clinical characteristics of metabolic syndrome in Korea, and its comparison with other Asian countries

    OpenAIRE

    Hong, A Ram; Lim, Soo

    2015-01-01

    Metabolic syndrome is referred to as syndrome X or insulin resistance syndrome, and is primarily composed of abdominal obesity, diabetes, glucose intolerance, dyslipidemia and high blood pressure. Asians have a lower frequency of obesity than Caucasians, but have an increasing tendency toward metabolic syndrome. Thus, metabolic syndrome poses a major challenge for public health professionals, and is set to become a social and economic problem in Asian populations. Most data on metabolic syndr...

  1. The relationship with restless legs syndrome, fibromyalgia, and depressive symptoms in migraine patients.

    Science.gov (United States)

    Akdag Uzun, Zehra; Kurt, Semiha; Karaer Unaldi, Hatice

    2018-05-18

    In this study, we aimed to investigate restless legs syndrome, depression, frequency of fibromyalgia and possible causes of its frequencies, and the relationships among these synergies and migraine's prodrome, aura, pain, and postdrome symptoms in patients with migraine. The study group included 200 patients previously or recently diagnosed with definite migraine and according to International Headache Society criteria and 200 healthy volunteers. All subjects underwent a medical interview to confirm restless legs syndrome and fibromyalgia, and they were asked to complete Beck Depression and Anxiety Inventory and "severity of restless legs syndrome inventory." The frequencies of depressive symptoms and fibromyalgia in the patients with migraine were higher than those of the control group. The mean age of the migraine patients with restless legs syndrome was also higher, and this group had migraine headache for a longer time. There was a statistically significant difference with regard to only generalized anxiety and traveler's distress, which were features of the migraine, between migraine patients with and without restless legs syndrome. Restless legs syndrome was more common in migraine patients with and without aura and in those with nonspecific white matter lesions in the cranial MRI. In our study, the greater frequency of restless legs syndrome, depressive symptoms, and fibromyalgia in the patients with migraine supports the role of dopamine, which is common to all three disorders. Interviews focused on these problems among migraine patients may help to decide on the best available treatment modality.

  2. Anesthetic management of a child with Down’s Syndrome having atlanto axial instability

    Directory of Open Access Journals (Sweden)

    Basant Bhattarai

    2009-01-01

    Full Text Available Down's syndrome is the most commonly encountered congenital anomaly in medical practice. These patients are of special concern to medical practice because of their associated problems with regard to respiratory, cardiovascular and other systemic problems. As these patients present for repeated surgeries like dental extraction, facial reconstruction and fixation of cervical spine, these patients pose challenges to the anesthesiologist because of their unique set of problems, namely atlantoaxial instability, small trachea, congenital heart disease and repeated chest infections due to lowered immunity. Their reactivity to inhalational anesthetics and atropine is variable. Here we present an interesting case report of a child with Down's syndrome who presented with atlantoaxial instability for MRI of cervical spine under general anesthesia. KeyWords:atlanto axial instability, down’s syndrome, trisomy 21

  3. Bartter's syndrome: A case report of nephrocalcinosis

    OpenAIRE

    KOŞAN, Celalettin

    2014-01-01

    Bartter's syndrome is characterized by generalized hyperplasia of juxtaglomerular apparatus, hyperreninism leading to secondary hyperaldesteronism, hypokalemic alkalosis and normal blood pressure. Although nephrocalcinosis has been described sporadically in patients with Barter's syndrome, this is still generally unrecognized. We reported a case of Barter's syndrome with nephrocalcinosis and discussed clinical significance of nephrocalcinosis in this syndrome.

  4. Language Development in Infants and Toddlers with Fragile X Syndrome: Change over Time and the Role of Attention

    Science.gov (United States)

    Kover, Sara T.; McCary, Lindsay M.; Ingram, Alexandra M.; Hatton, Deborah D.; Roberts, Jane E.

    2015-01-01

    Fragile X syndrome (FXS) is associated with significant language and communication delays, as well as problems with attention. This study investigated early language abilities in infants and toddlers with FXS (n = 13) and considered visual attention as a predictor of those skills. We found that language abilities increased over the study period of…

  5. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

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

  6. [Asperger syndrome with highly exceptional calendar memory: a case report].

    Science.gov (United States)

    Sevik, Ali Emre; Cengel Kültür, Ebru; Demirel, Hilal; Karlı Oğuz, Kader; Akça, Onur; Lay Ergün, Eser; Demir, Başaran

    2010-01-01

    Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (Psavant syndrome.

  7. Metabolic syndrome in Tunisian bipolar I patients | Ezzaher | African ...

    African Journals Online (AJOL)

    Gender, age, illness episode and treatment were not significantly associated with metabolic syndrome, while patients under lithium had higher prevalence of metabolic syndrome than those under valproic acid, carbamazepine or antipsychotics. Patients with metabolic syndrome had significant higher levels of HOMA-IR and ...

  8. Lipopolysaccharide aggravated DOI-induced Tourette syndrome: elaboration for recurrence of Tourette syndrome.

    Science.gov (United States)

    Hongyan, Long; Zhenyang, Si; Chunyan, Wang; Qingqing, Pan

    2017-12-01

    Tourette syndrome (TS) is a neurological disorder characterized by highest familial recurrence rate among neuropsychiatric diseases with complicated inheritance. Recurrence of Tourette syndrome was frequently observed in clinical. Unexpectedly, the mechanism of recurrence of Tourette syndrome was failure to elucidate. Here, we first shown that lipopolysaccharide(LPS) may played an important role in the recurrence of Tourette syndrome. The TS model in rats was induced by DOI (the selective 5-HT2A/2C agonist 1-(2, 5-dimethoxy-4-iodophenyl) -2- aminopropane). The rats were randomly divided into 4 groups:(1)Control;(2) Control + LPS; (2)TS; (3)TS + LPS. The results demonstrated that the LPS treatment significantly increased stereotypic score and autonomic activity. LPS treatment also significantly increased inflammatory cytokines such as interleukin-6 (IL-6), interleukin-1β (IL-1β) and tumor necrosis factor-α (TNF-α) in serum and striatum. Also, highly expressed TLR4, MyD88, P-NF-κBp65, P-IκBα in TS rats were increased respectively by LPS treatment as indicted in western blot analysis and immunohistochemistry analysis. Thus, it was supposed that lipopolysaccharide(LPS) may played an important role in the recurrence of Tourette syndrome and its mechanism was related to TLR/NF-κB pathway.

  9. Factors influencing emergency nurses' ethical problems during the outbreak of MERS-CoV.

    Science.gov (United States)

    Choi, Jeong-Sil; Kim, Ji-Soo

    2018-05-01

    Whenever there has been a worldwide contagious disease outbreak, there have been reports of infection and death of healthcare workers. Particularly because emergency nurses have contact with patients on the front line, they experience ethical problems in nursing while struggling with infectious diseases in an unfavorable environment. The objective of this study was to explore emergency nurses' ethical problems and to identify factors influencing these problems during the outbreak of Middle East respiratory syndrome-coronavirus in Korea. For this cross-sectional study, a questionnaire survey was conducted with emergency nurses working in six hospitals selected through convenience sampling from the hospitals designated for Middle East respiratory syndrome-coronavirus patients in the capital area. Data were collected from 169 emergency nurses in Korea during August 2015. Ethical considerations: This research was approved by the Institutional Review Board of G University in Korea. The findings of this study suggest that during the Middle East respiratory syndrome-coronavirus outbreak, emergency nurses experienced ethical problems tied to a mind-set of avoiding patients. Three factors were found to influence emergency nurses' ethical problems (in order of influence): cognition of social stigmatization, level of agreement with infection control measures, and perceived risk. Through this study, we obtained information on emergency nurses' ethical problems during the Middle East respiratory syndrome-coronavirus outbreak and identified the factors that influence them. As found in this study, nurses' ethical problems were influenced most by cognitions of social stigmatization. Accordingly, to support nurses confidently care for people during future health disasters, it is most urgent to promote appropriate public consciousness that encourages healthcare workers.

  10. Verbal problem-solving difficulties in autism spectrum disorders and atypical language development.

    Science.gov (United States)

    Alderson-Day, Ben

    2014-12-01

    Children with autism spectrum disorders (ASDs) adopt less efficient strategies than typically developing (TD) peers on the Twenty Questions Task (TQT), a measure of verbal problem-solving skills. Although problems with the TQT are typically associated with executive dysfunction, they have also been reported in children who are deaf, suggesting a role for atypical language development. To test the contribution of language history to ASD problem solving, TQT performance was compared in children with high-functioning autism (HFA), children with Asperger syndrome (AS) and TD children. The HFA group used significantly less efficient strategies than both AS and TD children. No group differences were evident on tests of question understanding, planning or verbal fluency. Potential explanations for differences in verbal problem-solving skill are discussed with reference to the development of inner speech and use of visual strategies in ASD. © 2014 International Society for Autism Research, Wiley Periodicals, Inc.

  11. Neuropsychiatry of 18q{sup {minus}} syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Mahr, R.N.; Moberg, P.J.; Campbell, H.; Reber, M.E. [Univ. of Pennsylvania School of Medicine, Philadelphia, PA (United States)] [and others

    1996-04-09

    Our understanding of neuropsychiatric abnormalities in patients with deletions of the long arm of chromosome 18 (18q{sup {minus}} syndrome) is based mainly on sporadic case reports. We characterized the neuropsychiatric phenotype in 27 patients across a wide age range (2-47 years) with breakpoints ranging from 18q22.3-18q21.2. Adaptive behavior scores (Vineland Composite) were significantly higher in females than in males (62 {+-} 5 vs. 43 {+-} 3). Intelligence ranged from borderline to severely deficient (IQ, 73-<40), with academic achievement similarly impaired. Performance in specific neuropsychological functions, including attention, novel problem solving, memory, language, visuomotor integration, and fine motor dexterity, was consistently in the moderately-to-severely impaired range. Behavioral problems were common in both sexes, including aggressivity, hyperactivity, and temper tantrums. Contrary to the few previous reports, we found no evidence of psychosis in any patient. In a subset of patients selected on the basis of no prior knowledge of behavioral problems, 1 of 16 patients (61%) had autism, as defined by the Autistic Diagnostic Interview-Revised (ADI-R). Thus, the prevalence of autism in 18q{sup {minus}} syndrome is probably no greater than that in other developmental disabilities with a similar level of cognitive impairment. In contrast to what has been believed since 18q{sup {minus}} was first described 30 years ago, we found no relationship between chromosome deletion size and any measure of cognition or behavior; nor were there any correlations between any of these measures with the presence or absence of abnormalities on MRI or somatosensory-evoked potentials. 38 refs., 3 figs., 2 tabs.

  12. [Asthma-COPD overlap syndrome].

    Science.gov (United States)

    Odler, Balázs; Müller, Veronika

    2016-08-01

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

  13. 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

  14. The Development of an Internet-Based Treatment for Problem Gamblers and Concerned Significant Others: A Pilot Randomized Controlled Trial.

    Science.gov (United States)

    Nilsson, Anders; Magnusson, Kristoffer; Carlbring, Per; Andersson, Gerhard; Gumpert, Clara Hellner

    2018-06-01

    Problem gambling creates significant harm for the gambler and for concerned significant others (CSOs). While several studies have investigated the effects of individual cognitive behavioral therapy (CBT) for problem gambling, less is known about the effects of involving CSOs in treatment. Behavioral couples therapy (BCT) has shown promising results when working with substance use disorders by involving both the user and a CSO. This pilot study investigated BCT for problem gambling, as well as the feasibility of performing a larger scale randomized controlled trial. 36 participants, 18 gamblers and 18 CSOs, were randomized to either BCT or individual CBT for the gambler. Both interventions were Internet-delivered self-help interventions with therapist support. Both groups of gamblers improved on all outcome measures, but there were no differences between the groups. The CSOs in the BCT group lowered their scores on anxiety and depression more than the CSOs of those randomized to the individual CBT group did. The implications of the results and the feasibility of the trial are discussed.

  15. Risk factors and prevalence of burnout syndrome in the nursing profession.

    Science.gov (United States)

    Cañadas-De la Fuente, Guillermo A; Vargas, Cristina; San Luis, Concepción; García, Inmaculada; Cañadas, Gustavo R; De la Fuente, Emilia I

    2015-01-01

    The burnout syndrome is beginning to be regarded as an occupational illness of high prevalence among nursing in Spain. Individuals suffering from the syndrome manifest important health problems. More information about prevalence and risk factors for burnout is needed to prevent the syndrome and to determine the most appropriate clinical interventions when the disorder appears. Burnout levels were evaluated in a group of nurses. The objectives of this study were to estimate the prevalence of burnout, to identify the variables related to burnout and to propose a risk profile for this syndrome among the nursing personnel. The study was carried out in public health centers in Andalusia (Spain). The sample consisted of 676 nursing professionals from public health centers. Dependent variables were the three Burnout dimensions: emotional exhaustion, depersonalization and personal accomplishment. Independent variables were socio-demographic, organizational, personality-related variables. The nurses manifested average to high burnout levels. There were statistically significant differences in burnout levels associated with the following variables: age, gender, marital status, having children, level of healthcare, type of work shift, healthcare service areas and conducting administrative tasks. Burnout was also associated with personality-related variables. The prevalence of burnout among nursing professionals is high. Gender, age, marital status, level of healthcare, work shift and healthcare service areas predicted at least one of the dimensions of the syndrome. Neuroticism, agreeability, extraversion and conscientiousness are personality traits that predict at least two of the dimensions of burnout syndrome in nurses. Therefore, personality factors should be considered in any theory of risk profiles for developing burnout syndrome in the nursing profession. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Features that exacerbate fatigue severity in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Krahe, Anne Maree; Adams, Roger David; Nicholson, Leslie Lorenda

    2018-08-01

    To assess the prevalence, severity and impact of fatigue on individuals with joint hypermobility syndrome (JHS)/Ehlers-Danlos syndrome - hypermobility type (EDS-HT) and establish potential determinants of fatigue severity in this population. Questionnaires on symptoms and signs related to fatigue, quality of life, mental health, physical activity participation and sleep quality were completed by people with JHS/EDS-HT recruited through two social media sites. Multiple regression analysis was performed to identify predictors of fatigue in this population. Significant fatigue was reported by 79.5% of the 117 participants. Multiple regression analysis identified five predictors of fatigue severity, four being potentially modifiable, accounting for 52.3% of the variance in reported fatigue scores. Predictors of fatigue severity were: the self-perceived extent of joint hypermobility, orthostatic dizziness related to heat and exercise, levels of participation in personal relationships and community, current levels of physical activity and dissatisfaction with the diagnostic process and management options provided for their condition. Fatigue is a significant symptom associated with JHS/EDS-HT. Assessment of individuals with this condition should include measures of fatigue severity to enable targeted management of potentially modifiable factors associated with fatigue severity. Implications for rehabilitation Fatigue is a significant symptom reported by individuals affected by joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type. Potentially modifiable features that contribute to fatigue severity in this population have been identified. Targeted management of these features may decrease the severity and impact of fatigue in joint hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

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

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  18. Effect of Sensory Integration Therapy on Gross and Fine Motor Skills of 5-7 Years old Children with Down Syndrome

    Directory of Open Access Journals (Sweden)

    Hossein Sourtji

    2008-07-01

    Full Text Available Objective: Children with Down syndrome have sensory integration dysfunction, and a range of physical problems and difficulties that may affect their motor development. The aim of present study was to determine effectiveness of sensory integration therapy on gross and fine motor skills of 5-7 years old children with Down syndrome.  Materials & Methods: Sixty 5-7 years old children were diagnosed as having Down syndrome, were selected by randomized sampling and participated in this experimental study. Each participant was assessed by researcher, that the assessment used was Peabody Developmental Motor Scales. The children were randomly assigned to the intervention (sensory integration therapy and control groups. Sensory integration therapy was given to intervention group. Data were analyzed by Leven test, Independent T test and covariance analysis. Results: There was significant difference between pretest and post test scores of intervention and control groups in gross motor development (P<0.000, but in fine motor development there was significant difference between pretest and post test scores only in intervention group (P<0.001 and in control group it wasn’t significant (P=0.013. Also there was significant difference between two groups in gross and fine motor development (P<0.001. Conclusion: The results showed the sensory integration therapy were effective in gross and fine motor of children with Down syndrome. It was concluded that sensory integration therapy should be applied for children with Down syndrome who have gross and fine motor difficulties.

  19. Diagnostic features of polycystic ovary syndrome in adolescents (review).

    Science.gov (United States)

    Beltadze, K; Barbakadze, L

    2015-01-01

    The problem of Polycystic Ovary Syndrome (PCOS) is of a special importance due to its connection with not only medical but with psychosocial factors. PCOS is the most common endocrine cause of anovulatory infertility. It is a major factor for the metabolic syndrome, cardiovascular disease, type 2 diabetes mellitus (T2DM). Clinical symptoms of PCOS such as acne, hirsutism, obesity, alopecia represent psychological problem, especially for the adolescents. Many women who have PCOS have the onset of symptoms during adolescence. Early diagnosis and treatment of PCOS are important for preventing of the above mentioned long-term consequences associated with this condition. Adolescent patients often have diagnostic problems because the features of normal puberty are similar with symptoms of PCOS. This article reviews the diagnostic and differential diagnostic characteristics of PCOS in adolescents. In conclusion, consensus statement in adolescent patients is still awaiting. Our data suggest that it may be prudent to define adolescent PCOS according to the Carmina modified Rotterdam criteria. The increase rate of metabolic syndrome in adolescents with PCOS emphasize the importance of regular screening due to the high cardiometabolic disorders risk.

  20. Restless legs syndrome and impact on work performance

    Directory of Open Access Journals (Sweden)

    Diana Samara

    2016-02-01

    Full Text Available Restless legs syndrome (RLS is a neurological sensorimotor disorder characterized by unpleasant sensations in the legs and an uncontrollable urge to move them for relief. The RSL prevalence in the general population is 0.1% - 11.5%, and increases with age, with the highest effect of producing a primary sleep disorder (70%-80%. Women appear to be at increased risk, as do individuals with certain chronic conditions, including renal failure and anemia. The pathophysiology of RLS is incompletely understood, but it probably results from derangements in dopamine and iron metabolism, and has a genetic component. RSL could be idiopathic or secondary (usually related with iron deficiency, terminal renal failure, pregnancy, and spinal cord lesions. RLS patients usually have sleep disorders, so the disease can cause difficulties and problems in occupational and social life. Subjects with RLS symptoms appear to experience significantly more daytime problems, including being late for work, making errors at work, or missing work because of sleepiness. The diagnosis of RLS is made by following the criteria of the International Restless Legs Syndrome Study Group (IRLSSG. Pharmacologic RLS therapy, in which dopaminergic drugs constitute the first line, is effective and may have a dramatic effect on symptoms and quality of life. Identifying and treating RLS may improve sleep quality, daytime function and work performance.

  1. Restless legs syndrome and impact on work performance

    Directory of Open Access Journals (Sweden)

    Diana Samara

    2009-04-01

    Full Text Available Restless legs syndrome (RLS is a neurological sensorimotor disorder characterized by unpleasant sensations in the legs and an uncontrollable urge to move them for relief. The RSL prevalence in the general population is 0.1% - 11.5%, and increases with age, with the highest effect of producing a primary sleep disorder (70%-80%. Women appear to be at increased risk, as do individuals with certain chronic conditions, including renal failure and anemia. The pathophysiology of RLS is incompletely understood, but it probably results from derangements in dopamine and iron metabolism, and has a genetic component. RSL could be idiopathic or secondary (usually related with iron deficiency, terminal renal failure, pregnancy, and spinal cord lesions. RLS patients usually have sleep disorders, so the disease can cause difficulties and problems in occupational and social life. Subjects with RLS symptoms appear to experience significantly more daytime problems, including being late for work, making errors at work, or missing work because of sleepiness. The diagnosis of RLS is made by following the criteria of the International Restless Legs Syndrome Study Group (IRLSSG. Pharmacologic RLS therapy, in which dopaminergic drugs constitute the first line, is effective and may have a dramatic effect on symptoms and quality of life. Identifying and treating RLS may improve sleep quality, daytime function and work performance.

  2. Possible Waardenburg syndrome with gastrointestinal anomalies.

    OpenAIRE

    Nutman, J; Steinherz, R; Sivan, Y; Goodman, R M

    1986-01-01

    We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.

  3. Informative value of radiological findings recorded from cervical spine with reference to clinical symptoms in patients with cervical syndrome

    International Nuclear Information System (INIS)

    Loreck, D.; Kuehn, A.; Conradi, E.

    1991-01-01

    Static X-rays recorded at two planes from the cervical spine of 286 patients were evaluated and were compared to findings obtained from 50 probands without complaints. The patients complained about problems relating to vertebrogenic pain syndrome of the cervical spine, including vertigo of cervical origin. They were grouped by four sets of clinical symptoms (cephalgia, vertigo, locally delimited complaints and cervicobrachial syndrome). No statistically significant differences were found to exist among the groups of probands with regard to radiographic morphology, static condition nor impairment of relations. Particular reference is made in this paper to reversible function disorders and their major role among the multifactorial causes of the cervical syndrome. Indications are derived from these observations for primary X-ray examination of the cervical spine. (orig.) [de

  4. Stigma in Iranian Down Syndrome

    Directory of Open Access Journals (Sweden)

    Sahel Hemmati

    2010-04-01

    Full Text Available Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome families perceived that stigma had a negative effect from social. Causes of stigma are different. Stigma due social interaction, Media and health professionals are significant than others. Discussion: The diagnostic label of Down syndrome may render the person and his family vulnerable to stigmatization. The most causes of stigma were determined therefore, in the destigmatization programs, they must be attended. Stigma must be detected, too.

  5. Orthodontic treatment considerations in Down syndrome patients

    Directory of Open Access Journals (Sweden)

    Sianiwati Goenharto

    2012-03-01

    Full Text Available Background: Down syndrome is an easily recognized congenital disease anomaly, a common autosomal chromosomal anomaly with high prevalence of malocclusion. Orthodontic treatment demand should be high but it seems difficult to be done because of specific condition of disability. Purpose: The purpose of this literature review was to discribe the orthodontic problems found in Down syndrome patients and several consideration that shoud be done to treat them. Reviews: Many studies report the high prevalence of malocclusion among people with Down syndrome. There is a greater frequency of clas III relationship, crossbite, crowding and also open bite. Several problems might appear in the treatment because of dental, medical, mental, and behavioural factor. Conclusion: It is concluded that orthodonic treatment can be performed in Down syndrome patient, although several difficulties may appear. Good consideration in mental, behavior, medical and also dental condition will influence whether the treatment will success or not. Special care and facilities will support the orthodontic treatment.Latar belakang: Sindroma Down adalah suatu kelainan congenital yang mudah dikenali, merupakan kelaian kromosom autosomal yang cukup banyak terjadi, dengan prevalensi maloklusi cukup tinggi. Seharusnya permintaan akan perawatan ortodonti juga tinggi meskipun tampaknya sulit dilakukan karena adanya kondisi ketidakmampuan/cacat yang spesifik. Tujuan: Tujuan studi pustaka ini adalah untuk menggambarkan problem perawatan ortodonti pada penderita sindroma Down dan pertimbangan apa yang sebaiknya diambil untuk mengatasi masalah tersebut. Tinjauan pustaka: Banyak penelitian melaporkan tentang prevalensi maloklusi yang tinggi pada penderita sindroma Down. Maloklusi yang sering dijumpai adalah relasi klas III, gigitan silang, berdesakan dan juga gigitan terbuka. Problem dapat terjadi saat perawatan ortodonti karena adanya faktor dental, medis, mental dan tingkah laku penderita

  6. Assessment of Sexual Dysfunction in Patients with Fibromyalgia Syndrome

    Directory of Open Access Journals (Sweden)

    Rahime Nur Ülker

    2013-12-01

    Full Text Available Objectives: The aim of our study is to determine the presence, quality of sexual dysfunction in patients with fibromyalgia syndrome and to compare with normal population. Material and Methods: A total of 55 sexually active women who were admitted to Department of Physical Therapy and Rehabilitation of Antalya Research and Training Hospital and diagnosed with fibromyalgia syndrome according to 1990 and 2010 American College of Rheumatology (ACR criteria. A control group composed of 50 sexually active women who were admitted to our clinic with various musculoskeletal system complaints were also included in the study in order to compare the parameters used for clinical assessment of patients and to determine whether the patients differ from normal population. Patients and controls who met inclusion criteria were applied Female Sexual Function Index (FSFI for assessment of sexual function. This test was developed by Rosen and colleagues in 2000, it is composed of 19 questions and inquires six different dimensions including desire, arousal, lubrication, orgasm, sexual satisfaction and pain. Turkish validation test was done by Turkish Society Of Andrology in 2003, answers are multiplied with a coefficient and each section is evaluated on six scores. Minimum score is 2.4 and maximum is 36 and standardly used for assessment of female sexual dysfunction in Turkey. Results: Subscale and total score of Female Sexual Function Index of Fibromyalgia syndrome patients were found statistically significantly lower than those of control group (p<0.05. Conclusion: Disorders of sexual function or its quality are one of the problems seen in fibromyalgia syndrome patients. It should be noticed that sexual function assessment must be a part of treatment of fibromyalgia syndrome. It is quite difficult to determine the mechanism between sexual dysfunction and fibromyalgia syndrome and new and larger studies are needed to determine this mechanism. (Turkish Journal of

  7. Maternal Sensitivity and Overt Aggression in Young Children with Down Syndrome

    Science.gov (United States)

    Niccols, Alison; Milligan, Karen; Chisholm, Vivienne; Atkinson, Leslie

    2011-01-01

    Children with genetic syndromes offer a unique opportunity to combine genetic and environmental approaches to the study of aggression. Children with genetic syndromes associated with developmental delay are at increased risk for behavior problems, but little is known about risk and resilience factors. In this study, we examined maternal…

  8. Caries in Portuguese children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Cristina Maria Areias

    2011-01-01

    Full Text Available OBJECTIVES: Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. METHODS: A sibling-matched, population-based, cross-sectional survey was performed. RESULTS: Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. CONCLUSIONS: Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  9. Caries in Portuguese children with Down syndrome.

    Science.gov (United States)

    Areias, Cristina Maria; Sampaio-Maia, Benedita; Guimaraes, Hercilia; Melo, Paulo; Andrade, David

    2011-01-01

    Oral health in Down syndrome children has some peculiar aspects that must be considered in the follow-up of these patients. This study focuses on characterizing the environmental and host factors associated with dental caries in Portuguese children with and without Down syndrome. A sibling-matched, population-based, cross-sectional survey was performed. Down syndrome children presented a significantly greater percentage of children without caries, 78% vs. 58% of non-Down syndrome siblings. This difference in the DMFT index (number of decayed, missing and filled teeth) essentially reflects data obtained from treated teeth, for which 91% of children with Down syndrome had never had a tooth treated vs. 67% of siblings. This result was statistically significant, whereas results for decayed and lost teeth did not differ between Down syndrome children and their unaffected siblings. Additionally, in Down syndrome children, a delayed eruption of the second molar occurs. Down syndrome children and their siblings have similar oral hygiene habits, but a higher percentage of Down syndrome children visit a dentist before the age of three years, in comparison to their siblings. Bruxism was also more common in Down syndrome children compared to their siblings. Our results show that Portuguese children with Down syndrome have lower caries rates than children without Down syndrome. This reduced prevalence may be associated with the parents' greater concern about oral health care in Down syndrome children, resulting in their taking them sooner to visit a dentist, as well as to a higher bruxism prevalence and delayed tooth eruption.

  10. [Analgesic efficacy of magnetoledotherapy in patients with low back pain syndromes].

    Science.gov (United States)

    Krukowska, Jolanta; Woldańska-Okońska, Marta; Jankowska, Katarzyna; Kwiecień-Czerwieniec, Ilona; Czernicki, Jan

    2010-01-01

    Low back pain syndromes most often occur due to overloading of the musculoskeletal system. The cause is a frequent, improper lifting of heavy objects, most commonly by those working physically, with repetitive movements of bending and straightening of the trunk (turning and bending with load). This problem affects not only adults but also children and adolescents. There is a growing interest in new forms of analgesic therapy nowadays, especially in those that exhibit synergistic therapeutic effects. The aim of this work is to evaluate the analgesic efficacy of magnetoledotherapy in patients with lumbar--sacrum spinal pain syndromes caused by joints degenerative changes. The examination was carried out in 66 patients of both sexes aged 30 to 76 (average 54.7 +/- 13.8) with low back pain syndrome caused by spinal degenerative changes. The patients were divided into three groups according to the applied analgesic therapy (magnetoledotherapy, magnetostimulation, TENS currents). Level of pain has been evaluated four times in all patients--before the start of therapy and after 5, 10 and 15 applications with the use of the modified Laitinen Questionnaire and Visual-Analoque Scale (VAS). Post therapy levels of pain in the studied patients decreased significantly. According to Laitinen questionnaire, the greatest improvement was observed in the group treated with magnetoledotherapy and TENS currents and the smallest improvement was observed in the group treated with magnetostimulation. 1. Magnetoledotherapy shows significant analgesic efficacy in patients with low back pain syndrome and shows no side effects. 2. Concurrent application of both the infrared radiation generated by LED's and magnetostimulation synergistically reinforces analgesic effect in patients with low back pain syndrome, especially in level of pain and frequency of its occurrence, which results in the increase of movement activity and decrease in administration of analgesics.

  11. Relationship between two blood stasis syndromes and inflammatory factors in patients with acute coronary syndrome.

    Science.gov (United States)

    Ma, Cai-Yun; Liu, Jing-Hua; Liu, Jian-Xun; Shi, Da-Zhuo; Xu, Zhen-Ye; Wang, Shao-Ping; Jia, Min; Zhao, Fu-Hai; Jiang, Yue-Rong; Ma, Qin; Peng, Hong-Yu; Lu, Yuan; Zheng, Ze; Ren, Feng-Xue

    2017-11-01

    To investigate the relationship between inflammatory factors and two Chinese medicine (CM) syndrome types of qi stagnation and blood stasis (QSBS) and qi deficiency and blood stasis (QDBS) in patients with acute coronary syndrome (ACS). Sixty subjects with ACS, whose pathogenesis changes belongs to qi disturbance blood stasis syndrome, were divided into 2 groups: 30 in the QSBS group and 30 in the QDBS group. The comparative analysis on them was carried out through comparing general information, coronary angiography and inflammatory factors including intracellular adhesion molecule-1 (ICAM-1), chitinase-3-like protein 1 (YKL-40) and lipoprotein-associated phospholipase A2 (Lp-PLA2). Compared with the QSBS group, Lp-PLA2 and YKL-40 levels in the QDBS group showed no-significant difference (P>0.05); ICAM-1 was significantly higher in the QDBS group than in the QSBS group in the pathological processes of qi disturbance and blood stasis syndrome of ACS (Psyndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types.

  12. Possible Waardenburg syndrome with gastrointestinal anomalies.

    Science.gov (United States)

    Nutman, J; Steinherz, R; Sivan, Y; Goodman, R M

    1986-01-01

    We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one. Images PMID:3712396

  13. The Point of View of Pathophysiologist-Endocrinologist on the Problem of Age-Related Androgen Deficiency in Men (LOH-Syndrome

    Directory of Open Access Journals (Sweden)

    A.G. Reznikov

    2014-09-01

    Full Text Available The paper presents a pathophysiological analysis of age-related androgen deficiency syndrome in men (LOH-syndrome with special reference to current knowledge of molecular mechanisms of testosterone effects and androgen regulation of the structure and function of organs and systems of the male body. There is emphasized etiological and pathogenetic role of stress in this pathology. There is presented author’s concept of cause-effect relations between chronic stress, metabolic syndrome and LOH-syndrome.

  14. Executive function in adolescents with Down Syndrome.

    Science.gov (United States)

    Lanfranchi, S; Jerman, O; Dal Pont, E; Alberti, A; Vianello, R

    2010-04-01

    The present work is aimed at analysing executive function (EF) in adolescents with Down Syndrome (DS). So far, EF has been analysed mainly in adults with DS, showing a pattern of impairment. However, less is known about children and adolescents with this syndrome. Studying adolescents with DS might help us better understand whether performances on EF tasks of individuals with DS are determined by age or by Alzheimer disease, as some studies suggest, or whether their performances are directly related to DS cognitive profile. A battery of EF tasks assessing set shifting, planning/problem-solving, working memory, inhibition/perseveration and fluency, as well as a tasks assessing sustained attention has been administered to a group of 15 adolescents with DS and 15 typically developing children matched for mental age. All EF tasks were selected from previous studies with individuals with intellectual disabilities or from developmental literature and are thought to be useful for the samples considered. The present results revealed that the group of individuals with DS performed at a significantly lower level on tasks assessing set shifting, planning/problem-solving, working memory and inhibition/perseveration, but not on the tasks assessing fluency. In addition, individuals with DS demonstrated a greater number of errors and less strategy use for the sustained attention task. The results suggest a broad impairment in EF in adolescents with DS, and are consistent with several similar studies conducted with adults with DS. We assume that EF deficit is a characteristic of DS.

  15. Parental Alienation Syndrome

    Directory of Open Access Journals (Sweden)

    Fuat Torun

    2011-09-01

    Full Text Available Children who have been programmed by one parent to be alienated from the other parent are commonly seen in the context of child-custody disputes. Its primary manifestation is the child’s campaign of denigration against a parent, a campaign that has no justification. It is said to result from a combination of a programming (brainwashing parent’s indoctrinations and the child’s own contributions to the vilification of the targeted parent. Many evaluators use the term parental alienation syndrome to refer to the disorder engendered in such children. However, there is significant controversy going on about the validity of parental alienation syndrome. The purpose of this article has been to describe and help to differentiate parental alienation syndrome and abuse for mental health professionals working in the field, and discuss the arguments about the validity of this syndrome.

  16. Burnout syndrome among dental students.

    Science.gov (United States)

    Campos, Juliana Alvares Duarte Bonini; Jordani, Paula Cristina; Zucoloto, Miriane Lucindo; Bonafé, Fernanda Salloume Sampaio; Maroco, João

    2012-03-01

    The burnout syndrome is characterized by professional exhaustion and has been reported in college students. The aim of this study was to estimate the prevalence of Burnout Syndrome among dentistry students from a public university, and its relationship to socio-demographic characteristics. All students (n = 300) were invited to participate. We used the Maslach Burnout Inventory-Student Version (MBI-SS). We carried out an analysis of the MBI-SS' psychometric properties. Multivariate Analysis of Variance (MANOVA) was performed, followed by Analysis of Variance (ANOVA) and Tukey's post-hoc tests to compare the mean scores of burnout dimensions. Of the 235 participants, 72.8% were women and the mean age was 21.0 ± 1.8 years. The MBI-SS was reliable and valid. Of the students, 17.0% had Burnout Syndrome. There was a significant relation between Burnout Syndrome and a student's performance during the course (F = 4.433, p students most affected were those with poor performance, those who took medication because of studies, and those with thoughts of dropping the course. We concluded that the prevalence of the syndrome among dentistry students was high, with a significant relation between the syndrome and a student's academic performance, use of medication because of studies, and thoughts of dropping the course.

  17. [Detection of serum anti-salivary duct antibody and its clinical significance].

    Science.gov (United States)

    Zhang, H; Shi, G Y; Cai, X H

    1990-11-01

    The authors developed an indirect immunofluorescence technique for the detection of Anti-salivary duct antibody (ASDA) and screened 34 patients with rheumatoid arthritis, 15 patients with Sjögren's syndrome-rheumatoid arthritis and 15 patients with primary Sjögren's syndrome, 63 cases with other connective tissue diseases, 9 cases with other diseases and 40 normal controls. The incidence of ASDA in patients with Sjögren's syndrome rheumatoid arthritis (66.67%) or rheumatoid arthritis (32.35%) was significantly higher than that in normal controls (P less than 0.001). In patients with primary Sjögren's syndrome and other CTDs, non-CTDs, no ASDA was found. However, in patients with Sjögren's syndrome-rheumatoid arthritis or rheumatoid arthritis alone, ASDA was not correlated with age, sex, disease duration or serological findings. The result suggests that the detection of serum ASDA might be useful in the differentiation of Sjögren's syndrome with rheumatoid arthritis from primary Sjögren's syndrome with arthralgia and/or arthritis.

  18. Diffusion-weighted imaging as a problem-solving tool in the evaluation of patients with acute strokelike syndromes.

    Science.gov (United States)

    Schaefer, P W

    2000-10-01

    This article addresses syndromes that clinically and/or radiologically resemble acute stroke. These syndromes generally fall into four categories. (1) Patients with acute neurological deficits with nonischemic lesions and no acute abnormality on diffusion-weighted images. These patients may have peripheral vertigo, migraines, seizures, dementia, functional disorders, amyloid angiopathy, or metabolic disorders. When these patients present, we can confidently predict that they are not undergoing infarction. (2) Patients with ischemic lesions with reversible clinical deficits. Nearly 50% of patients with transient ischemic attacks have lesions with restricted diffusion. Patients with transient global amnesia may have punctate lesions with restricted diffusion in the medial hippocampus, parahippocampal gyms, and corpus callosum. (3) Vasogenic edema syndromes that may mimic acute infarction clinically and on conventional imaging. These include eclampsia/hypertensive encephalopathy, other posterior leukoencephalopathies, human immunodeficiency virus encephalopathy, hyperperfusion syndrome following carotid endarterectomy, venous sinus thrombosis, acute demyelination, and neoplasm. These syndromes demonstrate elevated diffusion rather than the restricted diffusion associated with acute ischemic stroke. (4) Entities in which restricted diffusion may resemble acute infarction. These include pyogenic infections, herpes virus encephalitis, Creutzfeldt-Jakob disease, diffuse axonal injury, tumors with dense cell packing, and rare acute demyelinative lesions.

  19. Clinical characteristics of mirror syndrome: a comparison of 10 cases of mirror syndrome with non-mirror syndrome fetal hydrops cases.

    Science.gov (United States)

    Hirata, Go; Aoki, Shigeru; Sakamaki, Kentaro; Takahashi, Tsuneo; Hirahara, Fumiki; Ishikawa, Hiroshi

    2016-01-01

    To investigate clinical features of mirror syndrome. We retrospectively reviewed 71 cases of fetal hydrops with or without mirror syndrome, and compared with respect to maternal age, the body mass index, the primipara rate, the gestational age at delivery, the timing of fetal hydrops onset, the severity of fetal edema, placental swelling, the laboratory data and the fetal mortality. The data are expressed as the medians. Mirror syndrome developed in 29% (10/35) of the cases with fetal hydrops. In mirror group, the onset time of fetal hydrops was significantly earlier (29 weeks versus 31 weeks, p = 0.011), and the severity of fetal hydrops (fetal edema/biparietal diameter) was significantly higher than non-mirror group (0.23 versus 0.16, p < 0.001). There was significantly higher serum human chorionic gonadotropin (hCG) (453,000 IU/L versus 80,000 IU/L, p < 0.001) and lower hemoglobin (8.9 g/dL versus 10.1 g/dL, p =0.002), hypoalbuminemia (2.3 mg/dL versus 2.7 mg/dL, p = 0.007), hyperuricemia (6.4 mg/dL versus 5.0 mg/dL, p = 0.043) in mirror group. Mirror syndrome is occurred frequently in early and severe fetal hydrops and cause hemodilution and elevation of serum hCG.

  20. Pelvic pain syndrome - successful treatment by ovarian vein embolization : a case report

    International Nuclear Information System (INIS)

    Yun, Ji Young; Hahn, Seong Tai; Lee, Jae Mun; Kim, Choon Yul; Yim, Jung Ik; Jang, Jae Soon; Kim, Sang Woo; Kim Jae Kwang; Sun, Hee Sik; Shinn, Kyung Sub

    1998-01-01

    Pelvic pain syndrome or pelvic congestion syndrome, with no apparent organic cause, is a common gynecological disorder. Ovarian varix, one of the causes of this syndrome, presents a difficult diagnostic and therapeutic problem, though surgical ligation of the ovarian vein is an effective method of treatment. although ovarian vein embolization has been recently developed as a useful alternative, no previous reports have described this procedure in Korea. We report a case of pelvic pain syndrome successfully treated by ovarian vein embolization. (author). 10 refs., 3 figs

  1. STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    Hastin Dyah K.

    2012-10-01

    Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

  2. Motor, linguistic, personal and social aspects of children with Down syndrome

    Directory of Open Access Journals (Sweden)

    Amanda Tragueta FERREIRA-VASQUES

    2015-08-01

    Full Text Available AbstractA global developmental delay is expected from Down syndrome, affecting motor, cognitive, linguistic and personal-social skills. However, not always these delays are proportional; different conditions occur due to several intrinsic and extrinsic variables that must be controlled to form groups of greater homogeneity.Objective To enhance personal-social, fine motor-adaptive, gross motor and linguistic skills among children with Down syndrome and compare them with typically developing children, matched for gender, socioeconomic status and mental age, while controlling some variables that interfere with the global development.Methods The ethical aspects were fulfilled (Case No. 040/2009. The following inclusion criteria were considered: participants without a history of prematurity, very low birth weight, congenital hypothyroidism, significant hearing and vision problems, and signs of Autism Spectrum Disorder. After the inclusion criteria were considered, 40 children participated in the study, of which 20 had Down syndrome (experimental group - EG, these being of both genders and with chronological ages ranging from 38 to 63 months, and the other 20 being typically developing children (control group - CG, matching the EG in terms of gender, socioeconomic status and mental age, with this age ranging from 13 to 50 months. The evaluation consisted in applying the Denver Developmental Screening Test II, a test that assesses areas such as personal-social, fine motor-adaptive, linguistic and gross motor development. The results were subjected to statistical analysis using Student’s t-test.Results A statistically significant difference was verified between the groups for the language and fine motor-adaptive areas.Conclusion Children with Down syndrome showed lower performance in language and fine motor skills when compared with typically developing children. There was no statistically significant difference in gross motor and personal

  3. Effect of core stability exercise on postural stability in children with Down syndrome

    OpenAIRE

    Sobhy M. Aly

    2016-01-01

    Down syndrome is one of the commonest causes of developmental delay in children. Postural stability problems often exist with Down syndrome. To investigate the effect of core stability exercises on postural stability in children with down syndrome. Thirty children (21 boys and 9 girls) with down syndrome, with ages ranged from 6 to 10 years were participated in this study. They were assigned randomlyinto study and control group. Study group received core stability exercises and conventional p...

  4. Theory of Mind in Adults with HFA and Asperger Syndrome

    Science.gov (United States)

    Spek, Annelies A.; Scholte, Evert M.; Van Berckelaer-Onnes, Ina A.

    2010-01-01

    Theory of mind was assessed in 32 adults with HFA, 29 adults with Asperger syndrome and 32 neurotypical adults. The HFA and Asperger syndrome groups were impaired in performance of the Strange stories test and the Faux-pas test and reported more theory of mind problems than the neurotypical adults. The three groups did not differ in performance of…

  5. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    S. de Munnik (Sonja); E.H. Hoefsloot (Lies); J. Roukema (Jolt); J. Schoots (Jeroen); N.V.A.M. Knoers (Nine); H.G. Brunner; A.P. Jackson (Andrew); E. Bongers (Ernie)

    2015-01-01

    textabstractMeier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia

  6. 17q12 microdeletion syndrome: three patients illustrating the phenotypic spectrum.

    Science.gov (United States)

    Dixit, Abhijit; Patel, Chirag; Harrison, Rachel; Jarvis, Joanna; Hulton, Sally; Smith, Nigel; Yates, Katherine; Silcock, Lee; McMullan, Dominic J; Suri, Mohnish

    2012-09-01

    Deletions of 17q12 are associated with renal cysts and maturity onset diabetes of the young, and have also been identified in women with reproductive tract anomalies due to Mullerian aplasia. Although initially identified in patients with normal cognitive ability, some patients with this recurrent microdeletion syndrome have learning problems. We identified a 17q12 microdeletion in three patients with renal cystic disease by array comparative genomic hybridization and the phenotypic spectrum of the 17q12 microdeletion syndrome is illustrated by the description of these patients. Of two patients who are old enough to be assessed, one has significant speech delay, autism spectrum disorder, and mild learning difficulty, while the other patient has only mild speech delay. This highlights the variability of cognitive involvement in this condition. The third patient presented with Alagille syndrome-like features in the neonatal period. All three patients had transient hypercalcemia in the neonatal period, a finding that has not previously been described in this condition. Moreover, two patients have mild or no dysmorphism, while one displays striking facial dysmorphism in addition to minor congenital anomalies. We suggest that while patients with 17q12 microdeletion syndrome can present with type 2 diabetes or renal cysts without any dysmorphic features, a subgroup may have dysmorphic features or present with neonatal cholestasis. Transient neonatal hypercalcemia may be a feature of this microdeletion syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  7. [Characteristics of pain syndrome in patients with upper limbs occupational polyneuropathies].

    Science.gov (United States)

    Kochetova, O A; Mal'kova, N Yu

    2015-01-01

    Pain syndrome accompanies various diseases of central and peripheral nervous system--that is one of the most important problems in contemporary neurology. Many scientists are in search for effective diagnostic and therapeutic tools. The article covers characteristics of the pain syndrome and its mechanisms in patients with upper limbs occupational polyneuropathies.

  8. Application of Multilabel Learning Using the Relevant Feature for Each Label in Chronic Gastritis Syndrome Diagnosis

    Science.gov (United States)

    Liu, Guo-Ping; Yan, Jian-Jun; Wang, Yi-Qin; Fu, Jing-Jing; Xu, Zhao-Xia; Guo, Rui; Qian, Peng

    2012-01-01

    Background. In Traditional Chinese Medicine (TCM), most of the algorithms are used to solve problems of syndrome diagnosis that only focus on one syndrome, that is, single label learning. However, in clinical practice, patients may simultaneously have more than one syndrome, which has its own symptoms (signs). Methods. We employed a multilabel learning using the relevant feature for each label (REAL) algorithm to construct a syndrome diagnostic model for chronic gastritis (CG) in TCM. REAL combines feature selection methods to select the significant symptoms (signs) of CG. The method was tested on 919 patients using the standard scale. Results. The highest prediction accuracy was achieved when 20 features were selected. The features selected with the information gain were more consistent with the TCM theory. The lowest average accuracy was 54% using multi-label neural networks (BP-MLL), whereas the highest was 82% using REAL for constructing the diagnostic model. For coverage, hamming loss, and ranking loss, the values obtained using the REAL algorithm were the lowest at 0.160, 0.142, and 0.177, respectively. Conclusion. REAL extracts the relevant symptoms (signs) for each syndrome and improves its recognition accuracy. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice. PMID:22719781

  9. Application of Multilabel Learning Using the Relevant Feature for Each Label in Chronic Gastritis Syndrome Diagnosis

    Directory of Open Access Journals (Sweden)

    Guo-Ping Liu

    2012-01-01

    Full Text Available Background. In Traditional Chinese Medicine (TCM, most of the algorithms are used to solve problems of syndrome diagnosis that only focus on one syndrome, that is, single label learning. However, in clinical practice, patients may simultaneously have more than one syndrome, which has its own symptoms (signs. Methods. We employed a multilabel learning using the relevant feature for each label (REAL algorithm to construct a syndrome diagnostic model for chronic gastritis (CG in TCM. REAL combines feature selection methods to select the significant symptoms (signs of CG. The method was tested on 919 patients using the standard scale. Results. The highest prediction accuracy was achieved when 20 features were selected. The features selected with the information gain were more consistent with the TCM theory. The lowest average accuracy was 54% using multi-label neural networks (BP-MLL, whereas the highest was 82% using REAL for constructing the diagnostic model. For coverage, hamming loss, and ranking loss, the values obtained using the REAL algorithm were the lowest at 0.160, 0.142, and 0.177, respectively. Conclusion. REAL extracts the relevant symptoms (signs for each syndrome and improves its recognition accuracy. Moreover, the studies will provide a reference for constructing syndrome diagnostic models and guide clinical practice.

  10. Comèl-Netherton syndrome – case report

    Directory of Open Access Journals (Sweden)

    Izabela Błażewicz

    2014-11-01

    Full Text Available Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions . Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic problems. In older children, recurrent skin infections and atopic diathesis can cause therapeutic difficulties and require the cooperation of many specialists.

  11. Beneficial Effects of Corn Silk on Metabolic Syndrome.

    Science.gov (United States)

    Wang, Bing; Xiao, Tiegang; Ruan, Jun; Liu, Wensheng

    2017-01-01

    Metabolic syndrome (MS) is a very common medical problem worldwide. It includes obesity, hypertension, hyperglycemia, and abnormal levels of triglycerides and high-density lipoprotein cholesterol. It is closely associated with insulin resistance and may lead to diabetes mellitus, liver diseases, or cardiovascular diseases. Corn silk (CS), a traditional Chinese medicine, has been reported to have multiple beneficial effects, including hypotensive, anti-diabetic, and hypolipidemic properties. This suggests that corn silk could be used to treat or prevent metabolic syndrome. In this review, we will discuss the potential role of corn silk in different components of metabolic syndrome. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  12. Abortion: A significant problem of public health and a determinant of biological reproduction

    OpenAIRE

    Todorović Miodrag; Radovanović Olica

    2006-01-01

    Artificial abortion is a very important social-medical, economic and demographic problem. It is not only a problem of public health (disease disability, sterility) and social economy (to lose income and compensation because of absenteeism, increase of expense in health care sector for the treatment of direct, early and late consequences and sterility). It is a very important demographic problem because of the increase in "unrealized fertilities" and lost of descendents. According to the regis...

  13. Meier-Gorlin syndrome Clinical genetics and genomics

    NARCIS (Netherlands)

    De Munnik, Sonja A.; Hoefsloot, Elisabeth H.; Roukema, Jolt; Schoots, Jeroen; Knoers, Nine Vam; Brunner, Han G.; Jackson, Andrew P.; Bongers, Ernie Mhf

    2015-01-01

    Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females

  14. Ultrasonographic contrast-enhanced study of sicca syndrome

    International Nuclear Information System (INIS)

    Giuseppetti, Gian Marco; Argalia, Giulio; Salera, Diego; Ranaldi, Roberto; Danieli, Giovanna; Cappelli, Marida

    2005-01-01

    Objective: To assess the ability of US contrast-enhanced time-intensity curves to depict the changes connected with sicca syndrome, a fairly common condition that is often associated with autoimmune disorders such as Sjogren's syndrome or other diseases. Diagnostic criteria are complex and controversial and although no single test can be considered the gold standard, salivary gland scintigraphy and biopsy are reliable diagnostic methods. Materials and methods: Sixty consecutive patients with sicca syndrome, 40 of whom had primary (n = 23) or secondary (n = 17) Sjogren's syndrome and 20 had non-Sjogren's sicca syndrome, selected according to European Community Study Group diagnostic criteria for Sjogren's syndrome and subjected to contrast-enhanced US imaging of the parotids using a second-generation contrast agent with analysis of time-intensity curves at rest and during salivary stimulation, Tc99m salivary gland scintigraphy and labial gland biopsy. Results: In the 40 Sjogren's patients, US enhancement values were significantly lower (P < 0.0001 and P < 0.00003, respectively) than in the 20 non-Sjogren's patients both at rest and during stimulation. In the 23 subjects with the primary syndrome, values during stimulation were significantly lower than in the 17 subjects with the secondary syndrome (P < 0.0006), whereas at rest differences were not significant. Contrast-enhanced US imaging allowed to discriminate Sjogren's from non-Sjogren's sicca patients with 87.5% sensitivity, 85% specificity and 86.7% accuracy and the primary from the secondary syndrome with 78.2% sensitivity, 70.5% specificity and 75% accuracy. Interestingly, in eight patients with the primary syndrome, i.e. those with the more severe gland involvement, enhancement values were lower during stimulation than at rest. Conclusion: Preliminary results indicate that contrast-enhanced US imaging can provide useful information on sicca characterisation and severity

  15. Ultrasonographic contrast-enhanced study of sicca syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Giuseppetti, Gian Marco [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy)]. E-mail: gm.giuseppetti@ao-umbertoprimo.marche.it; Argalia, Giulio [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy); Salera, Diego [Institute of Radiology, University School of Medicine, Umberto I Hospital, Via Conca 1, Ancona (Italy); Ranaldi, Roberto [Institute of Pathological Anatomy and Histopathology, University School of Medicine, Umberto I Hospital, Ancona (Italy); Danieli, Giovanna [Institute of Internal Medicine, University School of Medicine, Umberto I Hospital, Ancona (Italy); Cappelli, Marida [Institute of Internal Medicine, University School of Medicine, Umberto I Hospital, Ancona (Italy)

    2005-05-01

    Objective: To assess the ability of US contrast-enhanced time-intensity curves to depict the changes connected with sicca syndrome, a fairly common condition that is often associated with autoimmune disorders such as Sjogren's syndrome or other diseases. Diagnostic criteria are complex and controversial and although no single test can be considered the gold standard, salivary gland scintigraphy and biopsy are reliable diagnostic methods. Materials and methods: Sixty consecutive patients with sicca syndrome, 40 of whom had primary (n = 23) or secondary (n = 17) Sjogren's syndrome and 20 had non-Sjogren's sicca syndrome, selected according to European Community Study Group diagnostic criteria for Sjogren's syndrome and subjected to contrast-enhanced US imaging of the parotids using a second-generation contrast agent with analysis of time-intensity curves at rest and during salivary stimulation, Tc99m salivary gland scintigraphy and labial gland biopsy. Results: In the 40 Sjogren's patients, US enhancement values were significantly lower (P < 0.0001 and P < 0.00003, respectively) than in the 20 non-Sjogren's patients both at rest and during stimulation. In the 23 subjects with the primary syndrome, values during stimulation were significantly lower than in the 17 subjects with the secondary syndrome (P < 0.0006), whereas at rest differences were not significant. Contrast-enhanced US imaging allowed to discriminate Sjogren's from non-Sjogren's sicca patients with 87.5% sensitivity, 85% specificity and 86.7% accuracy and the primary from the secondary syndrome with 78.2% sensitivity, 70.5% specificity and 75% accuracy. Interestingly, in eight patients with the primary syndrome, i.e. those with the more severe gland involvement, enhancement values were lower during stimulation than at rest. Conclusion: Preliminary results indicate that contrast-enhanced US imaging can provide useful information on sicca characterisation and

  16. Significance of prior percutaneous revascularisation in patients with acute coronary syndromes: insights from the prospective PROSPECT registry.

    Science.gov (United States)

    Iñiguez, Andrés; Brener, Sorin J; Jiménez, Victor A; Maehara, Akiko; Mintz, Gary S; Xu, Ke; Weisz, Giora; Lansky, Alexandra J; De Bruyne, Bernard; Serruys, Patrick W; Stone, Gregg W

    2016-04-20

    Prior percutaneous coronary intervention (PCI) is increasingly encountered in acute coronary syndrome (ACS) patients, with uncertain significance. We sought to evaluate the impact of prior PCI in ACS patients. Patients with ACS enrolled in the prospective PROSPECT registry underwent three-vessel intravascular ultrasound and virtual histology evaluation after successful PCI of the culprit lesion(s). We identified patients with prior PCI (>6 months before index ACS) and compared their outcomes to those without prior PCI. Time-to-event for major adverse cardiac events (MACE) was estimated up to three years, and the independent association between prior PCI and MACE was evaluated in a multivariable model. Among 696 patients enrolled, 77 (11.1%) had prior PCI. They were older and more likely to have prior myocardial infarction, chronic kidney disease, and congestive heart failure. At three years, patients with prior PCI had significantly higher rates of cardiac death, rehospitalisation for worsening angina, and MACE (adjusted HR=1.73 [95% CI: 1.09, 2.75], p=0.02), independent of other comorbidities and intravascular ultrasound findings. Prior PCI was noted in over 10% of patients with ACS and was associated with higher mortality and morbidity, independent of other comorbidities. Prior PCI should be considered a high-risk feature when evaluating ACS patients.

  17. Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics

    Directory of Open Access Journals (Sweden)

    Emma D. Spikol

    2016-03-01

    Full Text Available Prader-Willi syndrome (PWS is a rare genetic neurodevelopmental disorder characterized by an insatiable appetite, leading to chronic overeating and obesity. Additional features include short stature, intellectual disability, behavioral problems and incomplete sexual development. Although significant progress has been made in understanding the genetic basis of PWS, the mechanisms underlying the pathogenesis of the disorder remain poorly understood. Treatment for PWS consists mainly of palliative therapies; curative therapies are sorely needed. Zebrafish, Danio rerio, represent a promising way forward for elucidating physiological problems such as obesity and identifying new pharmacotherapeutic options for PWS. Over the last decade, an increased appreciation for the highly conserved biology among vertebrates and the ability to perform high-throughput drug screening has seen an explosion in the use of zebrafish for disease modeling and drug discovery. Here, we review recent advances in developing zebrafish models of human disease. Aspects of zebrafish genetics and physiology that are relevant to PWS will be discussed, and the advantages and disadvantages of zebrafish models will be contrasted with current animal models for this syndrome. Finally, we will present a paradigm for drug screening in zebrafish that is potentially the fastest route for identifying and delivering curative pharmacotherapies to PWS patients.

  18. Congenital Rubella Syndrome - A Major Review and Update

    Directory of Open Access Journals (Sweden)

    Nure Ishrat Nazme

    2015-07-01

    Full Text Available Rubella is a major public health problem which is usually a mild rash illness in children and adults. However, it has devastating systemic consequences when rubella virus crosses the placental barrier and infects fetal tissue resulting in congenital rubella syndrome (CRS. Congenital rubella syndrome is an under-recognized public health problem in Bangladesh and the burden of the disease weighs heavily on patients and society; therefore, routine vaccination and other preventative strategies are strongly encouraged. Extensive surveillance studies should be conducted to eliminate CRS from our country. In this review, we will characterize the epidemiology of CRS; describe the patho-phyisiology, clinical features and laboratory testing for the disease, and discuss measures needed for prevention of rubella and CRS.

  19. The phenomenology of premenstrual syndrome in female medical students: a cross sectional study

    Directory of Open Access Journals (Sweden)

    Magdy Hassan Balaha

    2010-04-01

    Full Text Available BACKGROUND: The premenstrual syndrome (PMS is particularly common in the younger age groups and, therefore represents a significant public health problem in young girls. This study aims to estimate the prevalence, severity, determinants of premenstrual syndrome (PMS and its impact among the female medical students in Al-Ahsa, Saudi Arabia. METHODS: This study was performed at the College of Medicine, King Faisal University, Saudi Arabia, from June through December 2009. It included 250 medical students. They filled different questionnaires covering American College of Obstetrics and Gynecology (ACOG criteria to diagnose PMS, demographic and reproductive factors, physical activity and mental condition. Regression analysis was conducted for all the predictors. RESULTS: PMS was diagnosed in 35.6% of cases, distributed as 45% mild, 32.6% moderate and 22.4% severe. There were significant trends for older age, rural residence, family income and family history of PMS. The dominant limited activity was concentration in class (48.3%. Limitations of activities were significantly more frequent among severe cases. The preva lence of anxiety and depression was statistically more evident in the PMS group. Regression analysis revealed that, PMS was significantly associated with older age groups, rural residence, lower age at menarche, regularity of menses and family history. CONCLUSION: PMS is a common problem in young Saudi students in Al Ahsa. Severe PMS was associated with more impairment of daily activities and psychological distress symptoms. Older student age, rural residence, earlier age of menarche, regular cycles and positive family history are possible risk factors for PMS.

  20. The Sjögren’s syndrome – an interdisciplinary problem viewed by a dentist

    Directory of Open Access Journals (Sweden)

    Agata Barczyk

    2014-11-01

    Full Text Available Sjögren’s syndrome is common and chronic disease. So far there is no effective therapy. In 90% of cases, it affects women, usually in the peri-menopausal period. Many systems and organs may be involved in the course of the disease, thus it is interesting for many medical specialists. There are primary and secondary Sjögren’s syndromes, both characterized mainly by xerostomia and keratoconjunctivitis. The paper reviews basic symptoms in the oral cavity involving the oral mucosa, lips, tongue, gingiva, teeth and periodontium. Treatment and prevention in a dental clinic are also described. Lifestyle and pharmacotherapy to avoid symptom aggravation are additionally considered.

  1. Gender differences in patients with obesity hypoventilation syndrome.

    Science.gov (United States)

    BaHammam, Ahmed S; Pandi-Perumal, Seithikurippu R; Piper, Amanda; Bahammam, Salman A; Almeneessier, Aljohara S; Olaish, Awad H; Javaheri, Shahrokh

    2016-08-01

    The role of gender and menopause in obstructive sleep apnoea is well known; however, no study has reported the impact of gender on the clinical presentation and the nocturnal respiratory events in patients with obesity hypoventilation syndrome. Therefore, this study prospectively evaluated differences in the clinical characteristics of women and men with obesity hypoventilation syndrome in a large cohort of patients with obstructive sleep apnoea. During the study period, a total of 1973 patients were referred to the sleep clinic with clinical suspicion of obstructive sleep apnoea. All patients underwent overnight polysomnography, during which time spirometry, arterial blood samples and thyroid tests were routinely obtained. Among 1973 consecutive patients, 1693 (617 women) were diagnosed with obstructive sleep apnoea, among whom 144 suffered from obesity hypoventilation syndrome (96 women). The prevalence of obesity hypoventilation syndrome among women and men was 15.6% and 4.5%, respectively (P obesity hypoventilation syndrome were significantly older than men with obesity hypoventilation syndrome (61.5 ± 11.9 years versus 49.1 ± 12.5 years, P differences between genders regarding symptoms, body mass index, spirometric data or daytime PaCO2 , women with obesity hypoventilation syndrome suffered significantly more from hypertension, diabetes and hypothyroidism. The prevalence of obesity hypoventilation syndrome was higher in post-menopausal (21%) compared with pre-menopausal (5.3%) women (P obesity hypoventilation syndrome. In conclusion, this study reported that among subjects referred to the sleep disorders clinic for evaluation of obstructive sleep apnoea, obesity hypoventilation syndrome is more prevalent in women than men, and that women with obesity hypoventilation syndrome suffer from significantly more co-morbidities. Post-menopausal women with obstructive sleep apnoea have the highest prevalence of obesity hypoventilation syndrome. © 2016

  2. Burning mouth syndrome – a common dental problem in perimenopausal women

    Science.gov (United States)

    Szponar, Elżbieta

    2014-01-01

    Burning mouth syndrome (BMS) is characterized by the presence of burning, paresthesia or pain of the oral mucosa in the absence of pathologic lesions revealed during the clinical examination. Moreover, the pain may be accompanied by oral dryness, hypersensitivity to some food compounds and taste disorders. Etiopathogenesis of this condition remains unclear. Potential local causative factors include among the others mechanical irritation, parafunctions and dysfunctions of the stomatognathic system, contact allergy to dental materials and electro-galvanic phenomena. Potential systemic causes include diabetes mellitus, B group vitamin deficiency (vitamins B1, B2, B6 and B12), folic acid and iron deficiency, hormonal imbalance, gastrointestinal diseases, psychiatric and neurological disorders and drug-induced side effects. The hypothesis concerning the role of hormonal changes in the development of BMS seems to be confirmed by a high incidence of this condition in perimenopausal women. Up to now, due to an unclear etiology of the disease, the treatment is very often ineffective and mainly symptomatic, which may exacerbate patient's anxiety and discomfort. In this paper we present the main etiologic factors of the burning mouth syndrome. We discuss the basic diagnostic and therapeutic methods and the influence of hormonal replacement therapy on the course of BMS based on the current medical reports. PMID:26327855

  3. Mental Illness, Behavior Problems, and Social Behavior in Adults with Down Syndrome

    Science.gov (United States)

    Straccia, Claudio; Baggio, Stéphanie; Barisnikov, Koviljka

    2014-01-01

    Little is known about the behavioral characteristics of adults with Down syndrome (DS) without dementia. The main purpose of this study was to investigate the psychopathology and social behavior among adults with DS compared to adults with nonspecific intellectual disability (NSID). Thirty-four adults with DS were individually matched with 34…

  4. Modern management of the cancer anorexia-cachexia syndrome.

    Science.gov (United States)

    Nelson, K A

    2000-07-01

    The cancer anorexia-cachexia syndrome is common, occurring in 80% of patients with advanced-stage cancer, and it is one of the most frequent causes of death in patients with cancer. It is a complex problem involving abnormalities in protein, carbohydrate, and fat metabolism. Tumors have both direct and indirect effects that result in anorexia and weight loss. The disease burden does not necessarily correlate with the degree of cachexia. In addition to the physical manifestations, the resulting abnormalities have a significant psychologic effect on patients and their families. Although there is no treatment to reverse the process, pharmacologic and nonpharmacologic measures can enhance food intake and improve quality of life.

  5. Sexual Problems in Men: MedlinePlus Health Topic

    Science.gov (United States)

    ... Spanish Retrograde ejaculation (Medical Encyclopedia) Also in Spanish Topic Image MedlinePlus Email Updates Get Sexual Problems in ... Premature ejaculation Reifenstein syndrome Retrograde ejaculation Related Health Topics Erectile Dysfunction Penis Disorders Prostate Diseases Testicular Disorders ...

  6. Gradenigo's syndrome--surgical management in a child.

    Science.gov (United States)

    Humayun, Hassan Nabeel; Akhtar, Shabbir; Ahmed, Shakeel

    2011-04-01

    Otits media is a common problem. Some of its complications that were seen frequently in the preantibiotic era are rare today. We report a case of an 8 year boy who presented with earache, retro-orbital pain and diplopia secondary to a sixth nerve palsy--Gradenigo's syndrome. In this syndrome infection from the middle ear spreads medially to the petrous apex of the temporal bone. Work-up includes CT scan of the temporal bones. Timely management with intravenous antibiotics (+ surgery) is needed to prevent intra-cranial complications.

  7. Williams Syndrome and 15q Duplication: Coincidence versus Association.

    Science.gov (United States)

    Khokhar, Aditi; Agarwal, Swashti; Perez-Colon, Sheila

    2017-01-01

    Williams syndrome is a multisystem disorder caused by contiguous gene deletion in 7q11.23, commonly associated with distinctive facial features, supravalvular aortic stenosis, short stature, idiopathic hypercalcemia, developmental delay, joint laxity, and a friendly personality. The clinical features of 15q11q13 duplication syndrome include autism, mental retardation, ataxia, seizures, developmental delay, and behavioral problems. We report a rare case of a girl with genetically confirmed Williams syndrome and coexisting 15q duplication syndrome. The patient underwent treatment for central precocious puberty and later presented with primary amenorrhea. The karyotype revealed 47,XX,+mar. FISH analysis for the marker chromosome showed partial trisomy/tetrasomy for proximal chromosome 15q (15p13q13). FISH using an ELN -specific probe demonstrated a deletion in the Williams syndrome critical region in 7q11.23. To our knowledge, a coexistence of Williams syndrome and 15q duplication syndrome has not been reported in the literature. Our patient had early pubertal development, which has been described in some patients with Williams syndrome. However, years later after discontinuing gonadotropin-releasing hormone analogue treatment, she developed primary amenorrhea.

  8. Radiological aspects of sprained ankle syndrome

    NARCIS (Netherlands)

    Sijbrandij, E.S.

    2001-01-01

    This thesis addresses several problems related to sprained ankle syndrome. The purpose of this thesis is to evaluate the imaging features of sprained ankles, found on new radiological modalities, and to assess the additional diagnostic understanding and treatment planning of helical CT as well as

  9. Empirically derived dimensional syndromes of self-reported psychopathology: Cross-cultural comparisons of Portuguese and US elders.

    Science.gov (United States)

    Ivanova, Masha Y; Achenbach, Thomas; Leite, Manuela; Almeida, Vera; Caldas, Carlos; Turner, Lori; Dumas, Julie A

    2018-05-01

    As the world population ages, mental health professionals increasingly need empirically supported assessment instruments for older adult psychopathology. This study tested the degree to which syndromes derived from self-ratings of psychopathology by elders in the US would fit self-ratings by elders in Portugal. The Older Adult Self-Report (OASR) was completed by 352 60- to 102-year-olds in Portuguese community and residential settings. Confirmatory factor analyses tested the fit of the 7-syndrome OASR model to self-ratings by Portuguese elders. The primary fit index (Root Mean Square Error of Approximation) showed good fit, while secondary fit indices (the Comparative Fit Index and the Tucker-Lewis Index) showed acceptable fit. Loadings of 95 of the 97 items on their expected syndromes were statistically significant (mean = .63), indicating that the items measured the syndromes well. Correlations between latent factors, ie, between the hypothesized syndrome constructs measured by the items, averaged .66. The correlations between syndromes reflect varying degrees of comorbidity between problems comprising particular pairs of syndromes. The results support the syndrome structure of the OASR for Portuguese elders, offering Portuguese clinicians and researchers a useful instrument for assessing a broad spectrum of psychopathology. The results also offer a core of empirically supported taxonomic constructs of later life psychopathology as a basis for advancing clinical practice, training, and cross-cultural research. Copyright © 2017 John Wiley & Sons, Ltd.

  10. Fetal Alcohol Syndrome "Chemical Genocide."

    Science.gov (United States)

    Asetoyer, Charon

    In the Northern Plains of the United States, 100% of Indian reservations are affected by alcohol related problems. Approximately 90% of Native American adults are currently alcohol users or abusers or are recovering from alcohol abuse. Alcohol consumption has a devastating effect on the unborn. Fetal Alcohol Syndrome (FAS) is an irreversible birth…

  11. [Emigration in hard conditions: the Immigrant Syndrome with chronic and multiple stress (Ulysses' Syndrome)].

    Science.gov (United States)

    Achotegui, Joseba

    2005-01-01

    During the latest years, immigrant populations have been living in very hard conditions. To million people, migration is becoming a process with a high level of stress surpassing the human being capacity of adaptation. This people are prone to suffer the Immigrant Syndrome with chronic and multiple stress and the so called Ulysses Syndrome, what is becoming a serious health problem in the countries that receive the immigrants. This situation is the by-product of the unjust globalization and of the worsening of the living and health conditions of those undergoing such a displacement. In this article, the author postulates a relationship between the high level of stress suffered by the immigrants and their presentation of psychopathological symptoms.

  12. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    Science.gov (United States)

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  13. Clinical disease characteristics according to karyotype in Turner syndrome

    Directory of Open Access Journals (Sweden)

    Chae Young Yeo

    2010-02-01

    Full Text Available Purpose : Turner syndrome (TS is a disorder in which various anomalies can be accompanied, especially cardiovascular, renal, thyroid and auditory problems. The aim of this study is to identify the incidence of these disorders in patients with TS according to karyotype. Methods : We reviewed medical records of 90 patients with TS diagnosed by chromosomal analysis in 4 hospitals from Jan 1998 to Dec 2007. We evaluated these cases by prepared protocol of 4 medical problems. Results : The distribution of karyotype was 45,X (47.8%, mosaic pattern (34.4% and structural aberration group (17.8 %. Renal anomalies, cardiovascular anomalies, thyroid disorders and auditory problems are accompanied in 4.4%, 10.0 %, 11.1% and 5.6%, respectively. 45,X group had renal anomalies (7.0%, cardiovascular anomalies (18.6%, thyroid disorders (9.3% and auditory problems (11.6%. Mosaic group had renal anomalies (3.2%, thyroid disorders (12.9%, no cardiovascular anomalies and auditory problems. Structural aberration group had cardiovascular anomalies (6.3%, thyroid disorders (12.5% and no other 2 problems. Patients with 45,X group had a significant higher incidence of cardiovascular anomalies (P=0.025. Conclusion : Our results indicate that there are differences clinically according to karyotype of TS, especially in incidence of cardiovascular anomalies.

  14. Usher syndrome associated with Fuchs' heterochromic uveitis.

    Science.gov (United States)

    Lichtinger, Alejandro; Chowers, Itay; Amer, Radgonde

    2010-10-01

    The purpose of this study is to report two new cases of Usher syndrome associated with Fuchs' heterochromic uveitis (FHU), to confirm our previous observation of the association between FHU and retinitis pigmentosa (RP), and to evaluate if FHU is particularly associated with Usher syndrome. Retrospective medical record review of all new RP cases at Hadassah Medical Center between the years 2000 and 2007, review of our previously published data, and a meta-analysis of published relevant articles in peer reviewed journals. During the time frame of the study we diagnosed 58 new cases of RP, of whom one male and one female had the typical findings of FHU, and both had Usher syndrome type II. The difference in the occurrence of FHU between the 616 controls and the patients with RP was significant (p = 0.0073, Fisher's exact test). In our combined data, FHU occurred only in two types of RP; RP simplex with an incidence of 0.57%, and Usher syndrome with an incidence of 13.5%. This difference between the incidence of FHU in patients with Usher syndrome and other types of RP was significant (p Usher syndrome type II. Although infectious agents seem to play a role, the cause for this significant correlation is still unclear.

  15. Kinesiotherapy of Parkinson`s disease and Parkinson`s syndrom

    OpenAIRE

    Zechovská, Lenka

    2013-01-01

    Author: Lenka Zechovská Institution: Rehabilitation Clinic, Faculty of Medicine in Hradec Králové Title: Kinesiotherapy of Parkinson's disease and Parkinson's syndrome Supervisor: Mgr. Ivana Vondráková Number of pages: 115 Number of attachments: 8 Year of defence: 2013 Keywords: Parkinson's disease, basal ganglia, tremor, rigidity, hypokinesia Bachelor thesis deals with the problems of Parkinson's disease and Parkinson's syndrome. The theoretical part includes the basal ganglia pathophysiolog...

  16. Executive functions in persons with metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Subotić Tatjana

    2016-01-01

    Full Text Available Modern man lyfestyle contributes to the increasing incidence of metabolic syndrome in the developed world. Prevalence of the metabolic syndrome in adults ranges from 20 to 25%, and it tends to increase. Each year, 3.2 million people around the world die from complications associated with this syndrome. Treatment involves cooperation of medical doctors of various specialties, but the decisive factor is patient motivation, given that the treatment requires significant lifestyle changes. Our hypothesis is that metabolic syndrome patients have reduced ability to plan, convert plan into action and effectively implement planned activities, showing signs of dysexecutive syndrome. The term executive functions comes from the English word 'executive', which also means the controlling, in neuropsychology reserved for high-level abilities that influence more basic abilities such as attention, perception, memory, thinking and speaking. The main objective of this study was to determine characteristics of executive functioning in patients with metabolic syndrome. The sample consisted of 61 subjects of both sexes, aged 20 to 60 years, divided into two groups - those with a diagnosis of metabolic syndrome and those without this diagnosis. The results suggest that people with metabolic syndrome showed significantly poorer performance in almost all indicators of executive functions, represented by Wisconsin Card Sorting Test (Wisconsin Card Sorting Test variables.

  17. Differences in Social Motivation in Children with Smith-Magenis Syndrome and Down Syndrome.

    Science.gov (United States)

    Wilde, Lucy; Mitchell, Anna; Oliver, Chris

    2016-06-01

    Social excesses, characterised by heightened social motivation, are important for describing social functioning. Smith-Magenis syndrome (SMS) is a potential exemplar of a disorder where heightened social motivation is associated with negative behavioural outcomes. In Down syndrome (DS) strong social motivation is described, but less commonly associated with behavioural problems. Children with SMS (n = 21) and DS (n = 19) were observed during social situations, in which familiarity of adults present and level of attention available were manipulated. Motivation in SMS was characterised by comparatively frequent social initiations when adult attention was low, and stronger preference for familiar adults, compared to DS. Findings provide insight into the nature of social motivation in SMS and support an argument for nuanced consideration of motivation.

  18. [Post-Lyme disease syndrome].

    Science.gov (United States)

    Błaut-Jurkowska, Justyna; Jurkowski, Marcin

    2016-02-01

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

  19. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

    Science.gov (United States)

    Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Engelen, Marc; Mansour, Sahar; Whiteford, Margo; Chandler, Kate E; Douzgou, Sofia; Cooper, Nicola S; Tan, Ene-Choo; Foo, Roger; Lai, Angeline H M; Rankin, Julia; Green, Andrew; Lönnqvist, Tuula; Isohanni, Pirjo; Williams, Shelley; Ruhoy, Ilene; Carvalho, Karen S; Dowling, James J; Lev, Dorit L; Sterbova, Katalin; Lassuthova, Petra; Neupauerová, Jana; Waugh, Jeff L; Keros, Sotirios; Clayton-Smith, Jill; Smithson, Sarah F; Brunner, Han G; van Hoeckel, Ceciel; Anderson, Mel; Clowes, Virginia E; Siu, Victoria Mok; DDD study, The; Selber, Paulo; Leventer, Richard J; Nellaker, Christoffer; Niessing, Dierk; Hunt, David; Baralle, Diana

    2018-01-01

    Background De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia. Objectives To delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations. Methods Diagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes. Results We report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes. Conclusion We delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and

  20. Mental Health Problems in Parents of Children with Congenital Heart Disease

    NARCIS (Netherlands)

    Kolaitis, Gerasimos A.; Meentken, Maya G.; Utens, Elisabeth M. W. J.

    2017-01-01

    This review will provide a concise description of mental health problems in parents of children with a (non-syndromic) congenital heart disease (CHD) during different stressful periods. Predictors of these problems and also implications for clinical practice will be mentioned. Having a child with

  1. Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Dietz, H.C.; McIntosh, I.; Pyeritz, R.E.; Francomano, C.A. (Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)); Sakai, L.Y.; Corson, G.M.; Chalberg, S.C. (Oregon Health Sciences Univ., Portland (United States))

    1993-08-01

    Defects of fibrillin (FBN1), a glycoprotein component of the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity. To understand the molecular basis for this clinical observation, the authors have screened the fibrillin gene (FBN1) on chromosome 15, including the newly cloned 5[prime] coding sequence, for disease-producing alterations in a panel of patients with a wide range of manifestations and clinical severity. All the missense mutations identified to date, including two novel mutations discussed here, are associated with classic and moderate to severe disease and occur at residues with putative significance for calcium binding to epidermal growth factor (EGF)-like domains. In contrast, two new mutations that create premature signals for termination of translation of mRNA and are associated with reduction in the amount of mutant allele transcript produce a range of phenotypic severity. The patient with the lowest amount of mutant transcript has the mildest disease. These data support a role for altered calcium binding to EGF-like domains in the pathogenesis of Marfan syndrome and suggest a dominant negative mechanism for the pathogenesis of this disorder. 26 refs., 6 figs., 1 tab.

  2. Epizootiological and diagnostic significance of porcine reproductive and respiratory syndrome control

    Directory of Open Access Journals (Sweden)

    Radojičić Biljana

    2002-01-01

    Full Text Available The porcine reproductive and respiratory syndrome (PRRS is a new viral disease in swine, designated exclusively under the acronym PRRS by the European Commission in 1991. The cause of this disease was isolated and determined in 1991 at the Lelystad Institute in The Netherlands as Lelystad aretrivirus. The PRRSV is an RNA virus of the order Nidovirales, the family Arteriviridae, the genus Arterivirus (Cavanaugh, 1997. Different genomic and pheriotypic varieties of the virus are significant. It is replicated in macrophages, it induces permanent viraemia, causes the creation of antibodies, and leads to persistent and latent infections. It is isolated from tonsil tissue, alveolar macrophages, the uterus, and fetal homogenate composed of different tissues (Wills et al., 1997. All production categories of swine can contract PRRS, but pregnant sows, suckling piglets and fattening swine are considered endangered categories. Morbidity and mortapty is between 8-80%, which also depends on the animal category. Economic damages are substantial when one considers the high percentage of still-born piglets, mummified fetuses and suckling piglets. Irregular successive cycles in sows are also expressed. In fattening swine, in addition to a respiratory form of the clinical picture, the time period until animals reach abattoir weight is extended even up to 30 days, which is also a considerable economic loss. Costs of treating possible secondary bacterial infections, diagnostics and immunoprophylaxis are not negligible. The OIE placed PRRS on the B list in 1992 as a contagious disease of swine which incurs economic losses in almost all countries of the world. Diagnosis is made by isolating and determining the virus and/or by serodiagnostics (ELISA and PCR. Certain countries have already made up protocols for the implementation of constant diagnostics and suggested eradication measures (Dee S.A. et al., 2000. In our country, the first clinical cases of PRRS were

  3. Motivation and learning styles in young children with Down syndrome.

    Science.gov (United States)

    Wishart, J

    2001-10-01

    There are both psychological and biological reasons to expect that certain areas of learning will present young children with Down syndrome with significant problems. Knowledge of the neurological underpinnings of these specific difficulties can often allow compensatory teaching strategies to be put in place, however, and some of these have proved highly effective. The impact of the psychological environment on the progress of development in children with Down syndrome is less well understood. Experience of how others respond to their attempts at understanding the physical and social world and the balance of successes and failures they experience in their early learning are both likely to influence the approach to learning adopted when faced with mastering new skills. Findings from inter-linking studies of cognitive and socio-cognitive development which have explored learning behaviours at different ages and at different developmental stages illustrate how a learning style can sometimes evolve over time in which less than efficient use is made of current levels of cognitive ability. Social ploys are sometimes used to avoid engagement in learning, with the net effect that opportunities to learn new skills are not fully exploited and old skills are sometimes inadequately consolidated. Findings of a misuse of social skills in cognitive contexts do not necessarily provide support for the widely-held view that social understanding is an area of strength in children with Down syndrome and less vulnerable to disruption than cognitive development. Data from a recent study of face-processing abilities suggest that there may in fact be a specific weakness in a fundamental skill normally underpinning the development of social understanding: the ability to recognise differences in emotional expressions. The children with Down syndrome in this study had few problems in correctly identifying individual faces but evidenced difficulties in reliably interpreting the emotional

  4. PREVENTION FETAL ALCOHOL SYNDROME IN RUSSIA

    Directory of Open Access Journals (Sweden)

    L. V. Skitnevskaya

    2013-01-01

    Full Text Available The article is devoted to the influence of alcohol problems in women of childbearing age during pregnancy on the unborn child. The concept of a fetal alcohol syndrome (FAS. We describe the stages of the research project "Prevention of fetal FAS in Russia."

  5. Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

    Science.gov (United States)

    Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

    2012-06-01

    Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  6. [Constitutional mismatch repair deficiency syndrome].

    Science.gov (United States)

    Jongmans, Marjolijn C; Gidding, Corrie E; Loeffen, Jan; Wesseling, Pieter; Mensenkamp, Arjen; Hoogerbrugge, Nicoline

    2015-01-01

    Constitutional mismatch repair deficiency (CMMR-D) syndrome is characterised by a significantly increased risk for developing cancer in childhood. It arises when both parents have a mutation in the same mismatch repair gene and pass it on to their child. An 8-year-old girl was diagnosed with CMMR-D syndrome after she developed a brain tumour at the age of 4 and a T-cell non-Hodgkin lymphoma at the age of 6. She had multiple hyperpigmented skin lesions and died of myelodysplastic syndrome at the age of 11. In children with cancer CMMR-D syndrome can be recognized particularly if there are multiple primary malignancies and skin hyperpigmentations and hypopigmentations. The parents of these children are at high risk for colorectal and endometrial cancer (Lynch syndrome), amongst others.

  7. Metabolic syndrome and associated factors among psychiatric patients in Jimma University Specialized Hospital, South West Ethiopia.

    Science.gov (United States)

    Asaye, Sintayehu; Bekele, Shiferaw; Tolessa, Daniel; Cheneke, Waqtola

    2018-04-24

    Metabolic syndrome is a multisystem disorder which coined to describe the recognized clustering of metabolic and cardiovascular abnormalities including obesity, hypertension, dyslipidemia, and abnormalities of glucose homeostasis. To assess the prevalence and associated factors of metabolic syndrome among psychiatric patients in Jimma University Specialized Hospital. This study was conducted at Jimma University Specialized hospital psychiatric ward from May 15 to July 16, 2015. A cross-sectional study design and consecutive sampling technique were used. A single population proportion formula was used to include a total of 360 psychiatric patients. An interview administered structured questionnaire was used to collect socio-demographic and some clinical data. Anthropometric data were collected based on standard guild line for anthropometric measurement. Five milliliter of venous blood was collected from ante-cubital fossa after overnight fasting for 8 h. Semi-automated clinical chemistry analyzer (Temis Linear) was used for biochemical laboratory analysis. Data analysis was performed by using SPSS version-20 software. Binary and multiple logistic regressions were used to identify the association between dependent and independent variables. P value less than 0.05 was taken as statistically significant association. The prevalence of metabolic syndrome among psychiatric patients was 28.9%. Age greater than 30 years old (AOR: 5.2, CI: 2.3, 11.8, P. value metabolic syndrome among diabetic patients in the study area. The other independent variables such as family history of hypertension, chewing chat, Psychotropic drugs, duration of treatment, regularly eating fruits and vegetables had no statistically significant association with metabolic syndrome (P. value > 0.05). There was high prevalence of metabolic syndrome among the psychiatric patients. Therefore; close assessment, management and treatment of metabolic syndrome among patients with psychiatry problem is

  8. Attention deficits predict phenotypic outcomes in syndrome-specific and domain-specific ways

    Directory of Open Access Journals (Sweden)

    Kim eCornish

    2012-07-01

    Full Text Available Attentional difficulties, both at home and in the classroom, are reported across a number of neurodevelopmental disorders. However, exactly how attention influences early socio-cognitive learning remains unclear. We addressed this question both concurrently and longitudinally in a cross-syndrome design, with respect to the communicative domain of vocabulary and to the cognitive domain of early literacy, and then extended the analysis to social behavior. Participants were young children (aged 4 to 9 years at Time 1 with either Williams syndrome (WS, N=26 or Down syndrome (DS, N=26 and typically developing controls (N=103. Children with WS displayed significantly greater attentional deficits (as indexed by teacher report of behavior typical of attention deficit hyperactivity disorder, ADHD than children with DS, but both groups had greater attentional problems than the controls. Despite their attention differences, children with DS and those with WS were equivalent in their cognitive abilities of reading single words, both at Time 1 and 12 months later, at Time 2, although they differed in their early communicative abilities in terms of vocabulary. Greater ADHD-like behaviors predicted poorer subsequent literacy for children with DS, but not for children with WS, pointing to syndrome-specific attentional constraints on specific aspects of early development. Overall, our findings highlight the need to investigate more precisely whether and, if so, how, syndrome-specific profiles of behavioral difficulties constrain learning and socio-cognitive outcomes across different domains.

  9. Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome.

    Science.gov (United States)

    Savic, Ivanka

    2012-04-01

    Klinefelter syndrome, 47,XXY is the most common chromosomal aberration among men. It represents a naturally occurring human model for studies of both X-chromosome gene expression and potential androgen effects on brain development and function. The aim of this review is to combine available brain imaging and behavioral data to provide an overview of what we have learned about the neural underpinnings of cognitive, emotional and behavioral dysunctions in Klinefelter syndrome. The behavioral phenotype of 47,XXY is characterized by language, executive and psychomotor dysfunction, as well as socioemotional impairment. The prevalence of schizophrenia, attention deficit hyperactivity disorder, autism spectrum disorders and affective regulation problems is increased. Neuroimaging studies of children and adults with Klinefelter syndrome syndrome show characteristic structural changes from typical individuals. There are increases in the grey matter volume of the sensorimotor and parietooccipital regions, as well as significant reductions in amygdala, hippocampal, insular, temporal and inferior-frontal grey matter volumes. Widespread white matter abnormalities have been revealed, with reductions in some areas (including anterior cingulate, bilaterally) but increases in others (such as left parietal lobe). Mechanisms underlying these developmental anomalies could include imbalance in gene dosage relative to typical men or women, as well as the potential consequence of endocrinological deficits. Studies of Klinefelter syndrome could generate important information about the impact of anomalies in sex chromosome gene regulation on the development of cerebral grey and white matter and, ultimately, on human behavior.

  10. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS and related neurological problems

    Directory of Open Access Journals (Sweden)

    Randi J Hagerman

    2008-06-01

    Full Text Available Randi J Hagerman1,2, Deborah A Hall3, Sarah Coffey1,2, Maureen Leehey3, James Bourgeois4, John Gould5, Lin Zhang6, Andreea Seritan4, Elizabeth Berry-Kravis7–9, John Olichney6, Joshua W Miller10, Amy L Fong11, Randall Carpenter12, Cathy Bodine13, Louise W Gane1,2, Edgar Rainin1, Hillary Hagerman1, Paul J Hagerman141M.I.N.D. Institute, 2Department of Pediatrics, 4Department of Psychiatry & Behavioral Sciences, 5Department of Urology, 6Department of Neurology, 10Department of Pathology and Laboratory Medicine, 14Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, CA, USA; 3Department of Neurology, University of Colorado, Denver, CO, USA; 7Department of Pediatrics, Neurology, and Biochemistry, 8Department of Neurological Sciences, 9Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA; 11Physical Edge, Inc., Davis, CA, USA; 12Seaside Therapeutics, Cambridge, MA, USA; 13Department of Physical Medicine and Rehabilitation, University of Colorado Health Sciences Center, Denver, CO, USAAbstract: Fragile X-associated tremor/ataxia syndrome (FXTAS is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats of the fragile X (FMR1 gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently

  11. 47,XXY Klinefelter syndrome

    DEFF Research Database (Denmark)

    Aksglaede, Lise; Link, Katarina; Giwercman, Aleksander

    2013-01-01

    47,XXY (Klinefelter syndrome) is the most frequent sex chromosomal disorder and affects approximately one in 660 newborn boys. The syndrome is characterized by varying degrees of cognitive, social, behavioral, and learning difficulties and in adulthood additionally primary testicular failure...... with small testes, hypergonadotropic hypogonadism, tall stature, and eunuchoid body proportions. The phenotype is variable ranging from "near-normal" to a significantly affected individual. In addition, newborns with Klinefelter syndrome generally present with a normal male phenotype and the only consistent...... clinical finding in KS is small testes, that are most often not identified until after puberty. Decreased awareness of this syndrome among health professionals and a general perception that all patients with 47,XXY exhibit the classic textbook phenotype results in a highly under-diagnosed condition with up...

  12. Lynch syndrome-associated neoplasms

    DEFF Research Database (Denmark)

    Shia, Jinru; Holck, Susanne; Depetris, Giovanni

    2013-01-01

    It was a century ago that Warthin, a pathologist, first described the clinical condition now known as Lynch syndrome. One hundred years later, our understanding of this syndrome has advanced significantly. Much of the progress took place over the last 25 years and was marked by a series...... of interacting developments from the disciplines of clinical oncology, pathology, and molecular genetics, with each development serving to guide or enhance the next. The advancement of our understanding about the pathology of Lynch syndrome associated tumors exemplifies such intimate interplay among disciplines....... Today, accumulative knowledge has enabled surgical pathologists to detect tumors that are likely to be associated with Lynch syndrome, and the pathologist is playing an increasingly more important role in the care of these patients. The pathologist's ability is afforded primarily by information gained...

  13. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

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

  14. Therapeutic efficacy of narrow band imaging-assisted transurethral electrocoagulation for ulcer-type interstitial cystitis/painful bladder syndrome.

    Science.gov (United States)

    Kajiwara, Mitsuru; Inoue, Shougo; Kobayashi, Kanao; Ohara, Shinya; Teishima, Jun; Matsubara, Akio

    2014-04-01

    Narrow band imaging cystoscopy can increase the visualization and detection of Hunner's lesions. A single-center, prospective clinical trial was carried out aiming to show the effectiveness of narrow band imaging-assisted transurethral electrocoagulation for ulcer-type interstitial cystitis/painful bladder syndrome. A total of 23 patients (19 women and 4 men) diagnosed as having ulcer-type interstitial cystitis/painful bladder syndrome were included. All typical Hunner's lesions and suspected areas identified by narrow band imaging were electrocoagulated endoscopically after the biopsy of those lesions. Therapeutic efficacy was assessed prospectively by using visual analog scale score of pain, O'Leary-Sant's symptom index, O'Leary-Sant's problem index and overactive bladder symptom score. The mean follow-up period was 22 months. All patients (100%) experienced a substantial improvement in pain. The average visual analog scale pain scores significantly decreased from 7.3 preoperatively to 1.2 1 month postoperatively. A total of 21 patients (91.3%) who reported improvement had at least a 50% reduction in bladder pain, and five reported complete resolution. Daytime frequency was significantly decreased postoperatively. O'Leary-Sant's symptom index, O'Leary-Sant's problem index and overactive bladder symptom score were significantly decreased postoperatively. However, during the follow-up period, a total of six patients had recurrence, and repeat narrow band imaging-assisted transurethral electrocoagulation of the recurrent lesions was carried out for five of the six patients, with good response in relieving bladder pain. Our results showed that narrow band imaging-assisted transurethral electrocoagulation could be a valuable therapeutic alternative in patients with ulcer-type interstitial cystitis/painful bladder syndrome, with good efficacy and reduction of recurrence rate. © 2014 The Japanese Urological Association.

  15. Effects of edentulism in obstructive sleep apnea syndrome

    African Journals Online (AJOL)

    2014-11-29

    Nov 29, 2014 ... The use of dentures may prevent or protect patients from the predisposing factors of ... their age and dental condition. .... causes systemic problems, such as cardiovascular disease, ... treatment in sleep apnea syndrome.

  16. Cervical syndrome - the effectiveness of physical therapy interventions.

    Science.gov (United States)

    Kasumovic, Mersija; Gorcevic, Emir; Gorcevic, Semir; Osmanovic, Jasna

    2013-12-01

    The cervical syndrome refers to a set of disorders caused by the changes in the cervical spine and the soft-tissue surrounding it, with pain as the predominant symptom. Sore neck has been a common problem among a large section of today`s population. The factors contributing to this issue include the modern lifestyle, prolonged sitting and incorrect, fixed or constrained working postures. The root of these difficulties is found in the mechanical disorders of the cervical spine structures, poor body posture and jerky body movements. In the Scandinavian countries neck pain is considered to be a public health problem. The study evaluated 25 patients with an established diagnosis of cervical syndrome. The research was conducted at the PI Institute of Occupational and Sports Medicine of Zenica-Doboj Canton. Each patient received twenty physical therapy treatment sessions. The study included 25 patients suffering from the cervical syndrome. The statistical analysis of gender distribution indicated that 36% of the patients were male, while 64% were female. The mean age of study participants was 46.76±4,23. The patients ranged in age from 39 to 54 years, with no statistically significant difference in the mean age of male and female patients, p=0.691. Analysing the types of occupational activities performed by the patients, the study found a positive relation between neck pain and prolonged sitting at work. The patients who performed office work made up 76% of the total number. Each method of physical therapy applied in the treatment of neck pain patients proved useful. However, the combination of electrotherapy, kinesiotherapy and manual massage proved to be most effective. The cervical syndrome is a common medical condition primarily affecting adult population, with prevalence being higher among women and office workers. The condition places a considerable socioeconomic burden on the afflicted. Cervical pain ranges greatly in severity - from moderate to unbearable, thus

  17. A multicenter study on Leigh syndrome

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  18. Wellen’s syndrome: Challenges in diagnosis

    OpenAIRE

    Abhishek Agarwal; Sony Vyas; Ravindra Kumar

    2015-01-01

    Wellen’s syndrome is a pre-infarction stage of coronary artery disease characterised by predefined clinical and electrocardiographic (ECG) criteria of a subgroup of patients with myocardial ischaemia. Early recognition and appropriate intervention of this syndrome carry significant diagnostic and prognostic value. We report this unusual syndrome in an elderly man who presented with recurrent angina and characteristic ECG changes as T-waves inversion in the precordial leads, especi...

  19. Chédiak–Higashi syndrome

    Directory of Open Access Journals (Sweden)

    Javad Ghaffari

    2013-05-01

    Full Text Available Chédiak-Higashi syndrome is a rare autosomal recessive congenital immunodeficiency mainly characterized by a condition called oculo-cutaneous albinism. The affected subjects have light-colored hair, vision problems, blood clotting (coagulation abnormalities and in adulthood varying neurologic disorders. Recurrent infections, particularly viral infection with other disorders in childhood are usually life threatening. It has demonstrated mutations throughout the CHS1/LYST gene. The nature of the mutation can be a predictor of the severity of the disease. The current therapeutic options are: Antibiotics, chemotherapy and bone marrow transplantation. This review will discuss the clinical and molecular aspects of this syndrome for better understanding of the factors that may cause abnormalities.

  20. Rehabilitation in Guillian Barre syndrome.

    Science.gov (United States)

    Khan, Fary

    2004-12-01

    Guillian Barre syndrome (GBS) is the most common form of neuromuscular paralysis. It mostly affects young people and can cause long-term residual disability. This article outlines the rehabilitation treatment for patients recovering from GBS. Recovery from GBS can be prolonged. Early rehabilitation intervention ensures medical stability, appropriate treatment and preventive measures to minimise long term complications. Specific problems include deep venous thrombosis prevention, complications of immobility, dysautonomia, de-afferent pain syndromes, muscle pain and fatigue. Longer-term issues include psychosocial adjustment, return to work and driving, and resumption of the role within the family and community. Effective communication between the GP and rehabilitation physicians is imperative for improved functional outcomes and successful social reintegration.

  1. Burning mouth syndrome – a common dental problem in perimenopausal women

    Directory of Open Access Journals (Sweden)

    Zuzanna Ślebioda

    2014-06-01

    Full Text Available Burning mouth syndrome (BMS is characterized by the presence of burning, paresthesia or pain of the oral mucosa in the absence of pathologic lesions revealed during the clinical examination [1-3]. Moreover, the pain may be accompanied by oral dryness, hypersensitivity to some food compounds and taste disorders [4-6]. Etiopathogenesis of this condition remains unclear. Potential local causative factors include among the others mechanical irritation, parafunctions and dysfunctions of the stomatognathic system, contact allergy to dental materials and electro-galvanic phenomena. Potential systemic causes include diabetes mellitus, B group vitamin deficiency (vitamins B1, B2, B6 and B12, folic acid and iron deficiency, hormonal imbalance, gastrointestinal diseases, psychiatric and neurological disorders and drug-induced side effects. The hypothesis concerning the role of hormonal changes in the development of BMS seems to be confirmed by a high incidence of this condition in perimenopausal women [2, 7, 8]. Up to now, due to an unclear etiology of the disease, the treatment is very often ineffective and mainly symptomatic, which may exacerbate patient’s anxiety and discomfort. In this paper we present the main etiologic factors of the burning mouth syndrome. We discuss the basic diagnostic and therapeutic methods and the influence of hormonal replacement therapy on the course of BMS based on the current medical reports.

  2. Audiological follow-up of 24 patients affected by Williams syndrome.

    Science.gov (United States)

    Barozzi, Stefania; Soi, Daniela; Spreafico, Emanuela; Borghi, Anna; Comiotto, Elisabetta; Gagliardi, Chiara; Selicorni, Angelo; Forti, Stella; Cesarani, Antonio; Brambilla, Daniele

    2013-09-01

    Williams syndrome is a neurodevelopmental disorder associated with cardiovascular problems, facial abnormalities and several behavioural and neurological disabilities. It is also characterized by some typical audiological features including abnormal sensitivity to sounds, cochlear impairment related to the outer hair cells of the basal turn of the cochlea, and sensorineural or mixed hearing loss, predominantly in the high frequency range. The aim of this report is to describe a follow-up study of auditory function in a cohort of children affected by this syndrome. 24 patients, aged 5-14 years, were tested by means of air/bone conduction pure-tone audiometry, immittance test and transient evoked otoacoustic emissions. They were evaluated again 5 years after the first assessment, and 10 of them underwent a second follow-up examination after a further 5 years. The audiometric results showed hearing loss, defined by a pure tone average >15 dB HL, in 12.5% of the participants. The incidence of hearing loss did not change over the 5-year period and increased to 30% in the patients who underwent the 10-year follow-up. Progressive sensorineural hearing loss was detected in 20% of the patients. A remarkable finding of our study regarded sensorineural hearing impairment in the high frequency range, which increased significantly from 25% to 50% of the participants over the 5-year period. The increase became even more significant in the group of patients who underwent the 10-year follow-up, by which time the majority of them (80%) had developed sensorineural hearing loss. Otoacoustic emissions were found to be absent in a high percentage of patients, thus confirming the cochlear fragility of individuals with Williams syndrome. Our study verified that most of the young Williams syndrome patients had normal hearing sensitivity within the low-middle frequency range, but showed a weakness regarding the high frequencies, the threshold of which worsened significantly over time in

  3. Serum Progranulin Levels in Type 2 Diabetic Patients with Metabolic Syndrome.

    Science.gov (United States)

    Shafaei, Azam; Marjani, Abdoljalal; Khoshnia, Masoud

    2016-12-01

    The role of progranulin in individuals with metabolic syndrome is not exactly clear.We aimed to assess the serum level of progranulin in type 2 diabetic patients with and without metabolic syndrome and compare them with healthy controls. The study included 60 patients with type 2 diabetes and 30 healthy individuals as control groups. Biochemical parameters and progranulin levels were determined. Subjects with metabolic syndrome showed significantly higher levels of triglyceride, waist circumference, BMI, systolic and diastolic blood pressure than subjects without metabolic syndrome and the control groups, while HDL-cholesterol level was significantly lower in subjects with metabolic syndrome. Fasting blood sugar was significantly higher in type 2 diabetic patients than in the control groups. Serum level of progranulin was slightly increased in subjects with metabolic syndrome. Serum progranulin level had no significant relationship with metabolic syndrome components. Serum progranulin was also not dependent on cardiometabolic risk factors for subjects with metabolic syndrome, but it could be considered for the management of type 2 diabetes mellitus. Further studies are recommended to explain the effect of progranulin on the pathogenesis of metabolic risk factors.

  4. Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

    Science.gov (United States)

    Braunlin, Elizabeth; Steinberger, Julia; DeFor, Todd; Orchard, Paul; Kelly, Aaron S

    2018-02-01

    Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary artery involvement. Metabolic syndrome-a constellation of central obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose-is associated with increased cardiovascular risk, and occurs when any 3 or more of these 5 components is present within a single individual. The incidence of metabolic syndrome and its components is poorly defined after transplantation for Hurler syndrome. Chart review of all long-term survivors of hematopoietic cell transplantation for Hurler syndrome ≥9 years of age for factors comprising the metabolic syndrome: obesity, high blood pressure, low high-density lipoprotein cholesterol, elevated triglycerides, and fasting blood glucose. Sixty-three patients were evaluated, 20 of whom had components of the metabolic syndrome available for review. There was no significant difference in age at transplantation, sex, number of transplants, pretransplant radiation, or percent engraftment between those with and without these data. Median follow-up after transplantation for the 20 patients with data was 14.3 years. Only 1 (5%) patient of this group fulfilled the criteria for metabolic syndrome. Fifty-three percent of the patients had 1 or more components of metabolic syndrome: the most common was high blood pressure occurring in 40%. Metabolic syndrome is uncommon in this cohort of long-term survivors of hematopoietic cell transplantation for Hurler syndrome but almost half of the patients had 1 or more components of the syndrome, with high blood pressure being the most common. Further studies are needed to develop guidelines in this diagnosis as well as other nonmalignant diseases of children

  5. Exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type.

    Science.gov (United States)

    Simmonds, Jane V; Herbland, Anthony; Hakim, Alan; Ninis, Nelly; Lever, William; Aziz, Qasim; Cairns, Mindy

    2017-11-10

    To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data. Qualitative data was analysed thematically. 946 questionnaires were returned and analysed. Participants who received exercise advice from a physiotherapist were 1.75 more likely to report high volumes of weekly exercise (odds ratio [OR] = 1.75, 95% confidence interval [CI] = 1.30-2.36, p Ehlers-Danlos syndrome - hypermobility type in this survey. Implications for rehabilitation Exercise is a cornerstone of treatment for Ehlers-Danlos syndrome/Ehlers-Danlos syndrome - hypermobility type. Pain, fatigue and fear of injury are frequently reported barriers to exercise. Advice from physiotherapists may significantly influence exercise behaviour. Physiotherapists with condition specific knowledge and good verbal and non-verbal communication facilitate a positive therapeutic experience.

  6. [Neuropsychiatric symptoms in Sotos syndrome. Case report and review of the literature].

    Science.gov (United States)

    Kessler, Holger; Kraft, Susanne

    2008-01-01

    Sotos syndrome, or cerebral gigantism, is a rare genetic syndrome characterized by excessive growth during childhood, macrocephaly, distinctive facial gestalt and learning difficulties. It is caused by mutations or deletions of the NSD-1 gene. Most cases are sporadic. Apart from a number of physical abnormalities that are commonly present, a high prevalence of cognitive, emotional and behavioural problems in children with Sotos syndrome can be assumed. However, there has been almost no literature about psychiatric symptoms in adults with Sotos syndrome so far; one case of psychosis was reported. In the present case, the authors present psychopathological features of an adult patient with Sotos syndrom who developed - among other things - psychotic symptoms.

  7. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

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    Sevil Toka

    2012-09-01

    Full Text Available Objective: Monnose-Binding lectin (MBL appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome. Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328.Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size.

  8. Impact of Tourette Syndrome on School Measures in a Nationally Representative Sample.

    Science.gov (United States)

    Claussen, Angelika H; Bitsko, Rebecca H; Holbrook, Joseph R; Bloomfield, Jeanette; Giordano, Kathy

    2018-05-01

    Children with Tourette syndrome (TS) are at risk for a variety of co-occurring conditions and learning and school problems. The purpose of this study was to determine the impact of TS and co-occurring conditions on school measures. Parent-reported data from the 2007-2008 and 2011-2012 National Survey of Children's Health were combined (n = 129,353 children aged 6-17 yrs). Parent report of health care provider diagnosis of TS; co-occurring mental, emotional, and behavioral conditions; learning and language conditions; and school measures were assessed. School measures included type of school, individual education plan (IEP), number of school days missed, school problems, doing well in school, doing homework, and repeating a grade. Children with TS were compared with those who never had TS on school measures accounting for co-occurring conditions. After adjusting for demographics, compared with children without TS, children currently with TS were more likely to have an IEP, have a parent contacted about school problems, and not complete homework. After further adjusting for co-occurring conditions, only IEP status remained statistically significant. Compared with children with mild TS, children with moderate or severe TS were more likely to have an IEP, repeat a grade, encounter school problems, and not care about doing well in school. Tourette syndrome severity and co-occurring conditions are associated with school challenges and educational service needs. Awareness among health care providers, teachers and parents of the potential challenges related to both TS and co-occurring conditions would help to best support the child's education.

  9. A Rare Cause of Hypothalamic Obesity, Rohhad Syndrome: 2 Cases.

    Science.gov (United States)

    Şiraz, Ülkü Gül; Okdemir, Deniz; Direk, Gül; Akın, Leyla; Hatipoğlu, Nihal; Kendırcı, Mustafa; Kurtoğlu, Selim

    2018-03-19

    Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) syndrome is a rare disease that is difficult to diagnosis and distinguish from genetic obesity syndromes. The underlying causes of the disease has not been fully explained. Hypothalamic dysfunction causes endocrine problems, respiratory dysfunction and autonomic alterations. There are around 80 reported patients due to lack of recognition. We present two female patient suspected of ROHHAD due to weight gain since early childhood. The presented symptoms, respiratory and circulatory dysfunction, hypothalamic hypernatremia, hypothalamo-pituitary hormonal disorders such as santral hypothyrodism, hyperprolactinemia and santral early puberty are completely matched the criteria of ROHHAD syndrome. ROHHAD syndrome should be considered in differential diagnosis since it is difficult to distinguish from causes of monogenic obesity. Early identification of the disease reduces morbidity of the syndrome and patients require regular follow-up by a multidisciplinary approach.

  10. Influence of traditional Chinese medicine syndrome groups on quality of life in women with metabolic syndrome

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    Li-Wen Huang

    2016-10-01

    Full Text Available Traditional Chinese medicine (TCM; 中醫 zhōng yī syndrome groups are based on the symptoms of human diseases and guide the use of Chinese herbs. The aim of this study was to examine the effects of TCM syndrome groups on biochemical characteristics and quality of life (QOL in women with metabolic syndrome (MS. Among the 1080 registered female patients screened at our outpatient clinic, a total of 322 women aged between 18 and 65 years and meeting the requirements of MS were enrolled. All the patients were asked to fill out a questionnaire on metabolic TCM syndrome groups and a questionnaire on the QOL, the Medical Outcomes Study (MOS Short Form-12 (SF-12. Data of biochemical characteristics were collected at the same time. The present study showed MS women in TCM syndrome groups had significantly lower physical and mental component scores in SF-12 compared with those not in TCM syndrome groups. We also found MS patients in TCM syndrome groups, except Kidney Deficiency syndrome, showed higher body mass indexes, waist circumference, and hip circumference. However, there was almost no difference in most biochemical characteristics between TCM syndrome groups. The MS patients diagnosed as belonging to TCM syndrome groups had poor QOL.

  11. Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.

    Science.gov (United States)

    Couser, Natario L; Marchuk, Daniel S; Smith, Laurie D; Arreola, Alexandra; Kaiser-Rogers, Kathleen A; Muenzer, Joseph; Pandya, Arti; Gucsavas-Calikoglu, Muge; Powell, Cynthia M

    2017-10-01

    Mitochondrial DNA depletion syndrome 5 (MIM 612073) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the beta subunit of the succinate-CoA ligase gene located within the 13q14 band. We describe two siblings of Hispanic descent with SUCLA2-related mitochondrial depletion syndrome (encephalomyopathic form with methylmalonic aciduria); the older sibling is additionally affected with trisomy 21. SUCLA2 sequencing identified homozygous p.Arg284Cys pathogenic variants in both patients. This mutation has previously been identified in four individuals of Italian and Caucasian descent. The older sibling with concomitant disease has a more severe phenotype than what is typically described in patients with either SUCLA2-related mitochondrial depletion syndrome or Down syndrome alone. The younger sibling, who has a normal female chromosome complement, is significantly less affected compared to her brother. While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. © 2017 Wiley Periodicals, Inc.

  12. Preschool Psychopathology Reported by Parents in 23 Societies: Testing the Seven-Syndrome Model of the Child Behavior Checklist for Ages 1.5–5

    Science.gov (United States)

    Ivanova, Masha Y.; Achenbach, Thomas M.; Rescorla, Leslie A.; Harder, Valerie S.; Ang, Rebecca P.; Bilenberg, Niels; Bjarnadottir, Gudrun; Capron, Christiane; De Pauw, Sarah S.W.; Dias, Pedro; Dobrean, Anca; Doepfner, Manfred; Duyme, Michele; Eapen, Valsamma; Erol, Nese; Esmaeili, Elaheh Mohammad; Ezpeleta, Lourdes; Frigerio, Alessandra; Gonçalves, Miguel M.; Gudmundsson, Halldor S.; Jeng, Suh-Fang; Jetishi, Pranvera; Jusiene, Roma; Kim, Young-Ah; Kristensen, Solvejg; Lecannelier, Felipe; Leung, Patrick W.L.; Liu, Jianghong; Montirosso, Rosario; Oh, Kyung Ja; Plueck, Julia; Pomalima, Rolando; Shahini, Mimoza; Silva, Jaime R.; Simsek, Zynep; Sourander, Andre; Valverde, Jose; Van Leeuwen, Karla G.; Woo, Bernardine S.C.; Wu, Yen-Tzu; Zubrick, Stephen R.; Verhulst, Frank C.

    2014-01-01

    Objective To test the fit of a seven-syndrome model to ratings of preschoolers' problems by parents in very diverse societies. Method Parents of 19,106 children 18 to 71 months of age from 23 societies in Asia, Australasia, Europe, the Middle East, and South America completed the Child Behavior Checklist for Ages 1.5–5 (CBCL/1.5–5). Confirmatory factor analyses were used to test the seven-syndrome model separately for each society. Results The primary model fit index, the root mean square error of approximation (RMSEA), indicated acceptable to good fit for each society. Although a six-syndrome model combining the Emotionally Reactive and Anxious/Depressed syndromes also fit the data for nine societies, it fit less well than the seven-syndrome model for seven of the nine societies. Other fit indices yielded less consistent results than the RMSEA. Conclusions The seven-syndrome model provides one way to capture patterns of children's problems that are manifested in ratings by parents from many societies. Clinicians working with preschoolers from these societies can thus assess and describe parents' ratings of behavioral, emotional, and social problems in terms of the seven syndromes. The results illustrate possibilities for culture–general taxonomic constructs of preschool psychopathology. Problems not captured by the CBCL/1.5–5 may form additional syndromes, and other syndrome models may also fit the data. PMID:21093771

  13. Reliable multi-label learning via conformal predictor and random forest for syndrome differentiation of chronic fatigue in traditional Chinese medicine.

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    Huazhen Wang

    Full Text Available OBJECTIVE: Chronic Fatigue (CF still remains unclear about its etiology, pathophysiology, nomenclature and diagnostic criteria in the medical community. Traditional Chinese medicine (TCM adopts a unique diagnostic method, namely 'bian zheng lun zhi' or syndrome differentiation, to diagnose the CF with a set of syndrome factors, which can be regarded as the Multi-Label Learning (MLL problem in the machine learning literature. To obtain an effective and reliable diagnostic tool, we use Conformal Predictor (CP, Random Forest (RF and Problem Transformation method (PT for the syndrome differentiation of CF. METHODS AND MATERIALS: In this work, using PT method, CP-RF is extended to handle MLL problem. CP-RF applies RF to measure the confidence level (p-value of each label being the true label, and then selects multiple labels whose p-values are larger than the pre-defined significance level as the region prediction. In this paper, we compare the proposed CP-RF with typical CP-NBC(Naïve Bayes Classifier, CP-KNN(K-Nearest Neighbors and ML-KNN on CF dataset, which consists of 736 cases. Specifically, 95 symptoms are used to identify CF, and four syndrome factors are employed in the syndrome differentiation, including 'spleen deficiency', 'heart deficiency', 'liver stagnation' and 'qi deficiency'. THE RESULTS: CP-RF demonstrates an outstanding performance beyond CP-NBC, CP-KNN and ML-KNN under the general metrics of subset accuracy, hamming loss, one-error, coverage, ranking loss and average precision. Furthermore, the performance of CP-RF remains steady at the large scale of confidence levels from 80% to 100%, which indicates its robustness to the threshold determination. In addition, the confidence evaluation provided by CP is valid and well-calibrated. CONCLUSION: CP-RF not only offers outstanding performance but also provides valid confidence evaluation for the CF syndrome differentiation. It would be well applicable to TCM practitioners and

  14. Down syndrome and aberrant right subclavian artery

    NARCIS (Netherlands)

    Roofthooft, Marcus T. R.; van Meer, Hester; Rietman, Wim G.; Ebels, Tjark; Berger, Rolf M. F.

    Down syndrome (DS) may be associated with various organ system disorders. Feeding problems are frequent in children with DS and may be caused by associated defects, including congenital heart defects, gastrointestinal defects, or endocrine disorders. In the absence of these associated conditions,

  15. Attentional Disengagement in Adults with Williams Syndrome

    Science.gov (United States)

    Lense, Miriam D.; Key, Alexandra P.; Dykens, Elisabeth M.

    2011-01-01

    Williams syndrome (WS) is a neurodevelopmental disorder characterized by a distinctive behavioral and cognitive profile, including widespread problems with attention. However, the specific nature of their attentional difficulties, such as inappropriate attentional allocation and/or poor attentional disengagement abilities, has yet to be…

  16. Comparing the Effect of Open and Closed Kinetic Chain Exercises in Patients Suffering From Patellofemoral Pain Syndrome

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    Zahra Firoozkoohi Moghadam

    2016-11-01

    Full Text Available Introduction: Patellofemoral pain syndrome is one of the most prevalent problems in physically active people. The syndrome is a multifactorial disorder with different therapeutic approaches. Conservative treatment of the syndrome has been a crucial matter in different studies. Quadriceps muscle strengthening exercise is a recommended approach which is performed in forms of open and closed kinetic chain exercises. This study was designed to compare the efficacy of these exercises on this syndrome. Methods: Totally 30 women suffering from the syndrome aged 30-40 were randomly allocated into three groups: open, and closed kinetic chain exercises, and control group, as groups A, B, and C, respectively. Groups A and B participated in 28 sessions of exercises in a period of four weeks and group C did not do any exercise in this period. Before and after the period, pain and function of the participants were assessed using visual analog scale (VAS and Kujala patellofemoral scale, respectively. Data were analyzed using independent t test, dependent t test, and univariate variance analysis, while significance of data was determined at P < 0.05. Results: The study indicated that open kinetic chain exercises (group A for 4 weeks brought significant changes in relieving the pain along with improving the function (P = 0.001. Likewise, it was revealed a significant pain relief as well as function improvement in group B (P = 0.001. Comparing two groups illustrated that benefits of open kinetic chain exercises outweigh closed ones (P = 0.001. Conclusion: Overall, both exercises were efficient in relieving pain as well as improving function, however open kinetic chain exercises were more contributory.

  17. The problem of professional burnout in stress management

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    Makasheva Natalia

    2016-01-01

    Full Text Available The problem of professional burnout is extremely relevant in current stress management. By its nature, professional burnout is a unique type of stress syndrome that is characterized by emotional exhaustion. It leads to loss of energy and interest in one’s job. A burnout could be the result of such syndromes as – burnout and boreout. It could emerge as the reaction of the organism to the high working intensity and stress working conditions or due to the boredom and absence of the sphere for professional realization. Both syndromes negatively influence the professional activity and require serious research and an adequate approach to the study. Studies have been conducted in the higher educational environment and among production employees. The studies were conducted with the application of the existing tests for revealing the “boreout” and “burnout” syndromes. Studies have shown that the syndrome “burnout” is common among workers with free working regulations, whose work requires greater independence, initiative and responsibility. According to the results of the study, the employees who are more free in the performance of their professional duties (teachers, managers are less subjected to the boreout syndrome. For the prevention and control of professional burnout company management needs to apply the achievements of stress management.

  18. 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

  19. Disease-specific quality of life in young patients with tourette syndrome.

    Science.gov (United States)

    Cavanna, Andrea E; Luoni, Chiara; Selvini, Claudia; Blangiardo, Rosanna; Eddy, Clare M; Silvestri, Paola R; Calì, Paola V; Gagliardi, Emanuela; Balottin, Umberto; Cardona, Francesco; Rizzo, Renata; Termine, Cristiano

    2013-02-01

    Tourette syndrome is a neurodevelopmental disorder characterized by multiple tics and is often associated with comorbid behavioral problems. Research with generic instruments in child populations showed that comorbid disorders can have a greater impact on health-related quality of life than tic severity. This study investigated the usefulness of a newly developed disease-specific instrument, the Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (GTS-QOL-C&A), in assessing health-related quality of life in young patients with Tourette syndrome with and without behavioral comorbidity. We recruited 75 patients with Tourette syndrome (60 males; age 12.4 ± 3.2 years). All participants were evaluated by a neuropsychiatrist and completed a standardized psychometric battery, including the GTS-QOL-C&A, Child Depression Inventory, and Multidimensional Anxiety Scale for Children. Forty-two patients (56%) fulfilled diagnostic criteria for at least one comorbidity: obsessive-compulsive disorder (n = 25 patients [33.3%]); attention deficit/hyperactivity disorder (n = 6 patients [8%]); both (n = 11 patients [14.7%]). The GTS-QOL-C&A demonstrated usefulness in differentiating "pure" Tourette syndrome from Tourette syndrome "plus" behavioral problems with regard to health-related quality of life scores for the obsessive-compulsive subscale. In addition to focusing on core tic symptoms, the GTS-QOL-C&A showed sensitivity to the impact of behavioral comorbidities on health-related quality of life and can usefully complement existing nonspecific instruments. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome

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    Siti Fitria Ulfah

    2016-12-01

    Full Text Available Background: The number of children with down syndrome in Surabaya has reached 924 children. Prevalence of gingivitis and dental caries (91% and 93.8%, respectively occurs in children with down syndrome aged 6 to 20 years. Oral and dental health problems are found in children with down syndrome because they have physical and motoric limitation in maintaining oral and dental hygiene, thus require parental care from mother. Perceived parenting style includes responsiveness and demandingness. Perceived parenting is crucial for mother whose children have Down syndrome in order to guide their health behavior, particularly to maintain oral and dental health. Purpose: The study aimed to analyze correlation between perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome. Method: This cross sectional analytical study involved 40 mothers of children aged 7-13 years with Down syndrome enrolled in Special Education Elementary Schools Surabaya and Association of Parents of Children with Down syndrome Surabaya. Data of perceived parenting style (responsiveness and demandingness and mother’s behavior in maintaining dental health were obtained by questionnaire. Composition of each item in questionnaire of perceived parenting style and mother’s behavior in maintaining dental health of children with Down syndrome was passed through validity and reliability test. Data analysis was carried out using multiple linear regression correlation test. Result: This present study showed that perceived parenting style is significantly correlated with mother’s behavior in maintaining dental health of children with Down syndrome (R = 0.630, p = 0.000, with perceived parental responsiveness as a strong predictor. Mean score and standard deviation of perceived parental responsiveness and demandingness were 33.00±2.99 and 15.55±1.99, respectively. Conclusion: Perceived maternal parenting style in children with Down

  1. Pharmacological treatment of tics in Gilles de la Tourette Syndrome

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    Andrea E. Cavanna

    2011-12-01

    Full Text Available Tourette syndrome is a neurodevelopmental disorder characterised by the chronic presence of multiple motor tics (e.g. eye blinking, shoulder shrugging, etc. and at least one vocal/phonic tic (e.g. grunting or sniffing. The clinical picture of patients with Tourette syndrome is often complicated by tic-related behavioural problems and associated psychopathology. The pathophysiology of Tourette syndrome is poorly understood, however converging evidence from neuroimaging studies suggests abnormalities within the fronto-striatal pathways. The pharmacological management of the tic symptoms focuses on the dopaminergic and noradrenergic pathways and aims to improve the health-related quality of life of patients.

  2. How coffee affects metabolic syndrome and its components.

    Science.gov (United States)

    Baspinar, B; Eskici, G; Ozcelik, A O

    2017-06-21

    Metabolic syndrome, with its increasing prevalence, is becoming a major public health problem throughout the world. Many risk factors including nutrition play a role in the emergence of metabolic syndrome. Of the most-consumed beverages in the world, coffee contains more than 1000 components such as caffeine, chlorogenic acid, diterpenes and trigonelline. It has been proven in many studies that coffee consumption has a positive effect on chronic diseases. In this review, starting from the beneficial effects of coffee on health, the relationship between coffee consumption and metabolic syndrome and its components has been investigated. There are few studies investigating the relationship between coffee and metabolic syndrome, and the existing ones put forward different findings. The factors leading to the differences are thought to stem from coffee variety, the physiological effects of coffee elements, and the nutritional ingredients (such as milk and sugar) added to coffee. It is reported that consumption of coffee in adults up to three cups a day reduces the risk of Type-2 diabetes and metabolic syndrome.

  3. [Two cases of rehabilitation in Ehler-Danlos syndrome].

    Science.gov (United States)

    Le Tallec, H; Lassalle, A; Khenioui, H; Durufle, A; Plassat, R; Gallien, P

    2006-03-01

    Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

  4. Math Learning Disability and Math LD Subtypes: Evidence from Studies of Turner Syndrome, Fragile X Syndrome, and Neurofibromatosis Type 1.

    Science.gov (United States)

    Mazzocco, Michele M. M.

    2001-01-01

    This study examined whether indicators of math learning disability were observed in 35 5- and 6-year-olds with either neurofibromatosis, Turner Syndrome, or fragile X syndrome and compared to controls. Findings indicate that girls with fragile X or Turner syndrome but not neurofibromatosis are significantly more likely to have specific math…

  5. MULLIGAN MOBILIZATION VERSUS STRETCHING ON THE MANAGEMENT OF PIRIFORMIS SYNDROME A COMPARATIVE STUDY

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    Samahir Abuaraki Elbkheet

    2016-04-01

    Full Text Available Background: Piriformis syndrome is a commonly overlooked specific cause of low back pain. Apart from mimicking the sciatica-like symptoms, unilateral piriformis tightness can cause rotational dysfunction and pain in the lumbar region. This could lead to low back pain which is a common musculo skeletal problem and a major reason for activity limitation. Stretching the piriformis tightened muscle is a preferred choice of treatment against surgical intervention to release the muscle. Mulligan’s mobilization is based on movement with mobilization which is proven to be effective in many musculo skeletal dysfunctions including the lumbar spine. The purpose of this study is to explore and compare the two treatment methods in relieving the low back pain in clinical conditions with piriformis syndrome. Methods: In this experimental study, 40 patients with piriformis syndrome were selected and divided into two groups. One group was given only piriformis stretching for the tightened muscle and the other group given Mulligan mobilization for lumbo sacral joints. VAS and lower limb functional index were taken to compare before and after the treatment regime of 4 weeks. Results: There was no significant difference between the two groups in both pain scale and lower limb mobility and function. But there was significant improvement in pain relief and LLFI after the treatment regime in both groups compared to the pre-treatment status. Conclusion: Even as the piriformis syndrome is caused by the tightness of the muscle, the consequence in the lower back and lumbar spine mobility can be improved by a Mulligan mobilization as a single mode of intervention.

  6. Burnout syndrome in surgical oncology and general surgery nurses: a cross-sectional study.

    Science.gov (United States)

    Książek, Ilona; Stefaniak, Tomasz J; Stadnyk, Magdalena; Książek, Janina

    2011-09-01

    The occurrence of burnout syndrome is strongly associated with and modulated by multiple personality and environmental factors. In Poland, nurses experience a discrepancy between the demands, expectations and social status of the position of their profession and low salaries. Such a situation provokes frustration and depression, and further leads to problems of adaptation including burnout syndrome. The aim of this study was to evaluate the occurrence of burnout syndrome among nurses working in general surgery and surgical oncology specialties. The study was designed as a cross-sectional questionnaire survey. It was undertaken in the largest Hospital in the Pomeranian region of Poland. The participants included 60 nurses working in two departments: General Surgery and Surgical Oncology. The study was based upon an anonymous self-test composed of a questionnaire and three psychological measures: Maslach Burnout Inventory (MBI), Psychological Burden Scale and a self-constructed questionnaire on job satisfaction. Intensity of burnout syndrome was significantly higher among oncology nurses than among surgical ones. There was also a strong but not significant trend towards higher Psychological Burden Scale in the group of oncology nurses. The study revealed a high degree of emotional burden and burnout in nurses working in the study hospital suggesting that nurses are at great occupational risk. The findings of the study provide evidence of the potential need to restructure the system and suggest that nurses need more control of their work including a higher degree of involvement in clinical decision-making. Copyright © 2010 Elsevier Ltd. All rights reserved.

  7. Obstructive sleep apnoea syndrome in children and anaesthesia

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    A Rudra

    2010-01-01

    Full Text Available Obstructive sleep apnoea syndrome (OSAS is a common medical disorder among adults, which is increasingly being recognized in children too. It is a breathing disorder characterized by upper airway obstruction with or without intermittent complete obstruction that disrupts normal breathing during sleep. Anatomical and neuromuscular disorders are mainly responsible for this disorder. This disorder leads to a state of chronic hypoxemia, which has significant cardiac, pulmonary and central nervous system implications. Diagnosis of OSAS is based on thorough history and clinical examination along with appropriate sleep studies including polysomnography. The mainstay of treatment of paediatric OSAS is adenotonsillectomy. Good anaesthetic practice in Paediatric patients with OSAS revolves around good and ideal airway management. Early detection of airway obstruction, intense monitoring to warn of impending airway problems and appropriate and early intervention of airway compromise are good anaesthetic practices. Coexisting medical problems should be adequately addressed and safe analgesic techniques in the perioperative period go towards improving outcomes in patients with paediatric OSAS.

  8. The Behavioural Phenotype of Smith-Magenis Syndrome: Evidence for a Gene-Environment Interaction

    Science.gov (United States)

    Taylor, L.; Oliver, C.

    2008-01-01

    Background: Behaviour problems and a preference for adult contact are reported to be prominent in the phenotype of Smith-Magenis syndrome. In this study we examined the relationship between social interactions and self-injurious and aggressive/disruptive behaviour in Smith-Magenis syndrome to explore potential operant reinforcement of problem…

  9. Oxidative Inactivation of Liver Mitochondria in High Fructose Diet-Induced Metabolic Syndrome in Rats: Effect of Glycyrrhizin Treatment.

    Science.gov (United States)

    Sil, Rajarshi; Chakraborti, Abhay Sankar

    2016-09-01

    Metabolic syndrome is a serious health problem in the present world. Glycyrrhizin, a triterpenoid saponin of licorice (Glycyrrhiza glabra) root, has been reported to ameliorate the primary complications and hepatocellular damage in rats with the syndrome. In this study, we have explored metabolic syndrome-induced changes in liver mitochondrial function and effect of glycyrrhizin against the changes. Metabolic syndrome was induced in rats by high fructose (60%) diet for 6 weeks. The rats were then treated with glycyrrhizin (50 mg/kg body weight) by single intra-peritoneal injection. After 2 weeks of the treatment, the rats were sacrificed to collect liver tissue. Elevated mitochondrial ROS, lipid peroxidation and protein carbonyl, and decreased reduced glutathione content indicated oxidative stress in metabolic syndrome. Loss of mitochondrial inner membrane cardiolipin was observed. Mitochondrial complex I activity did not change but complex IV activity decreased significantly. Mitochondrial MTT reduction ability, membrane potential, phosphate utilisation and oxygen consumption decreased in metabolic syndrome. Reduced mitochondrial aconitase activity and increased aconitase carbonyl content suggested oxidative damage of the enzyme. Elevated Fe(2+) ion level in mitochondria might be associated with increased ROS generation in metabolic syndrome. Glycyrrhizin effectively attenuated mitochondrial oxidative stress and aconitase degradation, and improved electron transport chain activity. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  10. Evaluating the Risk of Metabolic Syndrome Based on an Artificial Intelligence Model

    OpenAIRE

    Chen, Hui; Xiong, Shenghua; Ren, Xuan

    2014-01-01

    Metabolic syndrome is worldwide public health problem and is a serious threat to people's health and lives. Understanding the relationship between metabolic syndrome and the physical symptoms is a difficult and challenging task, and few studies have been performed in this field. It is important to classify adults who are at high risk of metabolic syndrome without having to use a biochemical index and, likewise, it is important to develop technology that has a high economic rate of return to s...

  11. Prospective investigation of FOXP1 syndrome.

    Science.gov (United States)

    Siper, Paige M; De Rubeis, Silvia; Trelles, Maria Del Pilar; Durkin, Allison; Di Marino, Daniele; Muratet, François; Frank, Yitzchak; Lozano, Reymundo; Eichler, Evan E; Kelly, Morgan; Beighley, Jennifer; Gerdts, Jennifer; Wallace, Arianne S; Mefford, Heather C; Bernier, Raphael A; Kolevzon, Alexander; Buxbaum, Joseph D

    2017-01-01

    motor and language milestones, language impairment (expressive language > receptive language), ASD symptoms, visual-motor integration deficits, and complex psychiatric presentations characterized by anxiety, obsessive-compulsive traits, attention deficits, and externalizing symptoms. Medical features included non-specific structural brain abnormalities and dysmorphic features, endocrine and gastrointestinal problems, sleep disturbances, and sinopulmonary infections. This study identifies novel FOXP1 mutations associated with FOXP1 syndrome, identifies recurrent mutations, and demonstrates significant clustering of missense mutations in the DNA-binding domain. Clinical findings confirm the role FOXP1 plays in development across multiple domains of functioning. The genetic findings can be incorporated into clinical genetics practice to improve accurate genetic diagnosis of FOXP1 syndrome and the clinical findings can inform monitoring and treatment of individuals with FOXP1 syndrome.

  12. Shift Work Is Associated with Metabolic Syndrome in Young Female Korean Workers.

    Science.gov (United States)

    Yu, Kyoung Hwa; Yi, Yu Hyeon; Kim, Yun Jin; Cho, Byung Mann; Lee, Sang Yeoup; Lee, Jeong Gyu; Jeong, Dong Wook; Ji, So Yeon

    2017-03-01

    Shift work is associated with health problems, including metabolic syndrome. This study investigated the association between shift work and metabolic syndrome in young workers. A total of 3,317 subjects aged 20-40 years enrolled in the 2011-2012 Korean National Health and Nutrition Examination Survey were divided into shift and day workers. We conducted a cross-sectional study and calculated odds ratios using multivariate logistic regression analysis in order to examine the association between shift work and metabolic syndrome. The prevalence of metabolic syndrome was 14.3% and 7.1% among male and female shift workers, respectively. After adjusting for confounding factors, shift work was associated with metabolic syndrome in female workers (odds ratio, 2.53; 95% confidence interval, 1.12 to 5.70). Shift work was associated with metabolic syndrome in young women. Timely efforts are necessary to manage metabolic syndrome in the workplace.

  13. Comparison of self-reported emotional and behavioural problems in adolescents from Greece and Finland.

    Science.gov (United States)

    Kapi, Aikaterini; Veltsista, Alexandra; Sovio, Ulla; Järvelin, Marjo-Riitta; Bakoula, Chryssa

    2007-08-01

    To compare self-reported emotional and behavioural problems among Greek and Finnish adolescents. Youth Self-Report scores were analysed for 3373 Greek adolescents aged 18 years and 7039 Finnish adolescents aged 15-16 years from the general population in both countries. The impact of country, gender, place of residence, socioeconomic status (SES) and family stability on the scores was evaluated. Only country and gender yielded small to medium effect on the scores. Greek boys scored significantly higher than Finns on 10 of the 11 YSR syndromes, particularly on the anxious/depressed scale. Greek girls scored significantly lower than Finnish girls on the somatic complaints and delinquent behaviour scales. In general, girls scored higher than boys on both internalising and externalising problems. The gender by country interaction revealed that Finnish girls reported more externalising problems. The main differences marked in this comparison were the higher level of anxiety and depression in Greeks than Finns and the higher level of externalising problems in Finnish girls than boys. Cultural standards could play an important role in explaining these differences. Overall, it seems that only a small number of differences exist between a northern and southern European region.

  14. Pharmacological treatment and therapeutic perspectives of metabolic syndrome.

    Science.gov (United States)

    Lim, Soo; Eckel, Robert H

    2014-12-01

    Metabolic syndrome is a disorder based on insulin resistance. Metabolic syndrome is diagnosed by a co-occurrence of three out of five of the following medical conditions: abdominal obesity, elevated blood pressures, elevated glucose, high triglycerides, and low high-density lipoprotein-cholesterol (HDL-C) levels. Clinical implication of metabolic syndrome is that it increases the risk of developing type 2 diabetes and cardiovascular diseases. Prevalence of the metabolic syndrome has increased globally, particularly in the last decade, to the point of being regarded as an epidemic. The prevalence of metabolic syndrome in the USA is estimated to be 34% of adult population. Moreover, increasing rate of metabolic syndrome in developing countries is dramatic. One can speculate that metabolic syndrome is going to induce huge impact on our lives. The metabolic syndrome cannot be treated with a single agent, since it is a multifaceted health problem. A healthy lifestyle including weight reduction is likely most effective in controlling metabolic syndrome. However, it is difficult to initiate and maintain healthy lifestyles, and in particular, with the recidivism of obesity in most patients who lose weight. Next, pharmacological agents that deal with obesity, diabetes, hypertension, and dyslipidemia can be used singly or in combination: anti-obesity drugs, thiazolidinediones, metformin, statins, fibrates, renin-angiotensin system blockers, glucagon like peptide-1 agonists, sodium glucose transporter-2 inhibitors, and some antiplatelet agents such as cilostazol. These drugs have not only their own pharmacologic targets on individual components of metabolic syndrome but some other properties may prove beneficial, i.e. anti-inflammatory and anti-oxidative. This review will describe pathophysiologic features of metabolic syndrome and pharmacologic agents for the treatment of metabolic syndrome, which are currently available.

  15. Behavioral Profiles of Children With Williams Syndrome From Spain and the United States: Cross-Cultural Similarities and Differences.

    Science.gov (United States)

    Pérez-García, Débora; Brun-Gasca, Carme; Pérez-Jurado, Luis A; Mervis, Carolyn B

    2017-03-01

    To identify similarities and differences in the behavioral profile of children with Williams syndrome from Spain (n = 53) and the United States (n = 145), we asked parents of 6- to 14-year-olds with Williams syndrome to complete the Child Behavior Checklist 6-18. The distribution of raw scores was significantly higher for the Spanish sample than the American sample for all of the higher-order factors and half of both the empirically based and Diagnostic and Statistical Manual of Mental Disorders (DSM)-oriented scales. In contrast, analyses based on country-specific T-scores indicated that the distribution for the Spanish sample was significantly higher than for the American sample only on the Social Problems scale. No gender differences were found. Genetic and cultural influences on children's behavior and cultural influences on parental ratings of behavior are discussed.

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

    Science.gov (United States)

    Uyar, Meral; Davutoğlu, Vedat; Aydın, Neriman; Filiz, Ayten

    2013-05-01

    The aim of this study is to compare metabolic syndrome with syndrome Z growing epidemic in terms of risk factors, demographic variables, and gender differences in our large cohort at southeastern area in Turkey. Data of patients admitted to sleep clinic in University of Gaziantep from January 2006 to January 2011 were retrospectively evaluated. ATP III and JNC 7 were used for defining metabolic syndrome and hypertension. Data of 761 patients were evaluated. Hypertension, diabetes mellitus, coronary artery disease, pulmonary hypertension, and left ventricular hypertrophy were more common in patients with syndrome Z than in patients without metabolic syndrome. Age, waist/neck circumferences, BMI, triglyceride, glucose, and Epworth sleepiness scale score were detected higher, whereas the minimum oxygen saturation during sleep was lower in patients with syndrome Z. Metabolic syndrome was more common in sleep apneic subjects than in controls (58 versus 30 %). Female sleep apneics showed higher rate of metabolic syndrome than those of males (74 versus 52 %). Hypertension, diabetes mellitus, coronary artery disease, and left ventricular hypertrophy were detected higher in males with syndrome Z than in males without metabolic syndrome. Snoring and excessive daytime sleepiness were detected higher in females with syndrome Z than in females without metabolic syndrome. Systemic/pulmonary hypertension, diabetes mellitus, and left ventricular hypertrophy were more common in females with syndrome Z than in females without metabolic syndrome. Complaints of headache and systemic/pulmonary hypertension were more common among females than males with syndrome Z. Female syndrome Z patients had lower minimum oxygen saturation than male patients with syndrome Z. Metabolic syndrome in sleep apneic patients is more prevalent than in controls. All metabolic syndrome parameters were significantly different among obstructive sleep apneic patients with respect to gender with more severe

  17. Nurses and burnout syndrome

    Directory of Open Access Journals (Sweden)

    Zarema Obradović

    2013-04-01

    Full Text Available Introduction: The work of nurses is human. They help people in protection against diseases. Nurses are the largest group of health workers and all problems that appear in the health system are first recognized among them. Burnout syndrome appears among nurses very frequently. We present the leading factors for burnout among nurses in RMC „Dr Safet Mujic“ in Mostar, Bosnia and Herzegovina.Methods: It is a cross sectional descriptive study. We used an anonymous questionnaire with 20 questions. Our sample was random with 30% of all nurses which were working in this Medical Center in January-February 2012.Results: In our study 77.9% nurses work in the hospital. 52% have over 16 years of work experience. 34.6% of examinees are satisfi ed with interpersonal relationships, 31.7 % are satisfi ed with relationships with the superior. Motivation for work have 51% of examinees, a big number comes unwilling on work.For 83.7% overtime work is the reason for dissatisfaction 71.2% examinees think that they can't make progress on work. A high percentage of examinees doesn't think about problems related to work outside working hours, a good sleep have 38.5% and 56.7% wakes up tired. Many of examinees are not satisfiedwith workplace, and 58.7% would like to change it.Conclusion: Nurses employed in RMC „Dr Safet Mujic“ Mostar are exposed to many factors during work which can cause the burnout syndrome. It is necessary to expand the study on a larger group of nurses and to implement the measures for reducing risks of burnout syndrome.

  18. Effects of escitalopram in prevention of depression in patients with acute coronary syndrome (DECARD)

    DEFF Research Database (Denmark)

    Hansen, Baiba Hedegaard; Hanash, Jamal Abed; Rasmussen, Alice

    2012-01-01

    Depression is a major problem in patients after acute coronary syndrome (ACS) with negative impact on survival and quality of life. No studies have examined prevention of post-ACS depression. We examined whether treatment with escitalopram can prevent post-ACS depression.......Depression is a major problem in patients after acute coronary syndrome (ACS) with negative impact on survival and quality of life. No studies have examined prevention of post-ACS depression. We examined whether treatment with escitalopram can prevent post-ACS depression....

  19. Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome

    Directory of Open Access Journals (Sweden)

    Marisabel Magnifico

    2017-01-01

    Full Text Available The authors report a combined orthodontic-surgical correction of an adult patient’s malocclusion affected by Moebius Syndrome (MS. The treatment was conducted at the Dentistry Unit and the Maxillofacial Surgery Unit of the University Hospital of Parma. Treatment of malocclusion was performed after the correction of facial mimic mobility with smile surgery. The postoperative stability and orthodontic results were good and the correction of the morphological problems related to the syndrome was very satisfactory.

  20. Congenital central hypoventilation syndrome mimicking mitochondrial disease.

    Science.gov (United States)

    Rojnueangnit, Kitiwan; Descartes, Maria

    2018-03-01

    Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.