The heterogeneity of craniofacial morphology in Prader-Willi patients.

Science.gov (United States)

Belengeanu, D; Bratu, Cristina; Stoian, Monica; Motoc, A; Ormerod, Eli; Podariu, Angela Codruţa; Farcaş, Simona; Andreescu, Nicoleta

2012-01-01

Prader-Willi syndrome is a complex genetic disorder with narrow spectrum of facial phenotypic signs, which make the clinical diagnosis difficult in some cases. There are several reports describing the craniofacial appearance of Prader-Willi patients, but there are only a few cephalometric studies for these patients. In this study were included 18 patients with Prader-Willi syndrome and a control group of 18 subjects of both sexes selected based on specific criteria. The cephalometric radiographs of the patients were taken using the standardized technique with centric teeth in occlusion and lips in relaxed position. Angular, horizontal and linear measurements were analyzed for the study group and for the control group. We established that in Prader-Willi patients, there is a decrease of the majority of parameters but the degree of this reduction varies widely between patients and clinically typical facies not always have smaller measurements which can be found in an unusual facies. Facial dysmorphism in Prader-Willi patients varies a group ranging from miss proportions that do not alter the facial architecture as regard of facial typology, skeletal class and pattern of development to a severe disturbance of those. There is a degree of clinical heterogeneity between subjects with Prader-Willi syndrome on clinical evaluation and cephalometric study confirms the heterogeneity for this patients. Because the identification of smaller dimensions for majority of parameters in children and adults, the possibility of developmental delay or growth retardation delay can be excluded. These findings are important for the orthodontist for optimum timing of orthodontic management of patients with Prader-Willi syndrome.

Heritability of circle of Willis variations in families with intracranial aneurysms.

Directory of Open Access Journals (Sweden)

Mayte Sánchez van Kammen

Full Text Available Intracranial aneurysms more often occur in the same arterial territory within families. Several aneurysm locations are associated with specific circle of Willis variations. We investigated whether the same circle of Willis variations are more likely to occur in first-degree relatives than in unrelated individuals.We assessed four circle of Willis variations (classical, A1-asymmetry, incomplete posterior communicating artery and fetal circulation in two independent groups of families with familial aneurysms and ≥2 first-degree relatives with circle of Willis imaging on MRA/CTA. In each (index family we determined the proportion of first-degree relatives with the same circle of Willis variation as the proband and compared it to the proportion of first-degree relatives of a randomly selected unrelated (comparison family who had the same circle of Willis variation as the index family's proband. Concordance in index families and comparison families was compared with a conditional logistic events/trials model. The analysis was simulated 1001 times; we report the median concordances, odds ratios (ORs, and 95% confidence intervals (95%CI. The groups were analysed separately and together by meta-analysis.We found a higher overall concordance in circle of Willis configuration in index families than in comparison families (meta-analysis, 244 families: OR 2.2, 95%CI 1.6-3.0 mostly attributable to a higher concordance in incomplete posterior communicating artery (meta-analysis: OR 2.8, 95%CI 1.8-4.3. No association was found for the other three circle of Willis variations.In two independent groups of families with familial aneurysms, the incomplete PcomA variation occurred more often within than between families suggesting heritability of this circle of Willis variation. Further studies should investigate genetic variants associated with circle of Willis formation.

[Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome].

Science.gov (United States)

Ács, Orsolya Dóra; Péterfia, Bálint; Hollósi, Péter; Haltrich, Irén; Sallai, Ágnes; Luczay, Andrea; Buiting, Karin; Horsthemke, Bernhard; Török, Dóra; Szabó, András; Fekete, György

2018-01-01

According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or excluding clinically suspected Prade-Willi syndrome cases. Orv Hetil. 2018; 159(2): 64-69.

New onset epilepsy in Prader-Willi syndrome: semiology and literature review.

Science.gov (United States)

Benson, Leslie A; Maski, Kiran P; Kothare, Sanjeev V; Bourgeois, Blaise F

2010-10-01

Prader-Willi syndrome is a chromosomal disorder caused by absence of expression of the paternal active genes in the 15q11∼q13 chromosome region; it is associated with an increased incidence of epilepsy and narcolepsy. Presented here is the case of a 2.5-year-old boy with Prader-Willi syndrome and a history of neonatal superior sagittal sinus thrombosis with new onset of atonic seizures with electrographic onset from the parasagittal region. It is postulated that microscarring from neonatal venous sinus thrombosis, history of febrile seizures, and Prader-Willi syndrome are factors predisposing him to epilepsy. The importance of video electroencephalography with electromyography electrodes is emphasized for Prader-Willi syndrome patients with drop episodes, to differentiate cataplexy from seizures. This being a novel report of a Prader-Willi syndrome patient with atonic seizures, the literature on seizure semiology among patients with Prader-Willi syndrome is reviewed. Copyright © 2010 Elsevier Inc. All rights reserved.

A Tribute to Dr. Willy Lens

Directory of Open Access Journals (Sweden)

Maarten Vansteenkiste

2016-07-01

Full Text Available Dr. Willy Lens, born on December 10th, 1943, passed away on August 29th, 2014. With his passing, the motivation community has lost a seminal member, a mentor, and a friend. Dr. Lens – a Fellow of the Association for Psychological Science and Founding Fellow of the American Educational Research Association – made fundamental contributions to the study of motivation both through his own work and through his caring and thoughtful mentorship of a large community of scholars. With this tribute, we want to honor Dr. Willy Lens’ significance to psychology and education as well as his positive influence, both personally and professionally, on the lives of dozens of scholars. With his contagious enthusiasm and caring mentorship, Willy was an example for our academic community and with this tribute we express our gratitude for the privilege to have collaborated with him.

Prader-Willi Syndrome Association

Science.gov (United States)

... everyone will be talking about. Join the many families and individuals that are part of the PWS community this year in Orlando, FL from November ... of autism spectrum disorders in children with Prader-Willi syndrome pwsa | Jun ...

Willy Brandt and Ostpolitik

National Research Council Canada - National Science Library

1976-01-01

.... Emerging superpower status allowed Moscow to tighten control over its satellite states. Willy Brandt cites his first-hand observation of the 1961 building of the Berlin Wall as the act which ended his illusions over U.S...

Gümnasistid kipuvad kooli kõrvalt tööle / Kaarel Kotkas, Mariliis Kaul, Helis Toiger, Elar Toomsalu ; küsitlenud Madde Rebane

Index Scriptorium Estoniae

2007-01-01

Intervjuu Pärnu gümnaasiumiõpilaste Kaarel Kotkasega Hansagümnaasiumist, Mariliis Kauliga Koidula Gümnaasiumist, Helis Toigeriga Ülejõe Gümnaasiumist ja Elar Toomsaluga Sütevaka Humanitaargümnaasiumist

Willis H Carrier

Indian Academy of Sciences (India)

Home; Journals; Resonance – Journal of Science Education; Volume 17; Issue 2. Willis H. Carrier - Father of Air Conditioning. R V Simha. General Article Volume 17 Issue 2 February 2012 pp 117-138. Fulltext. Click here to view fulltext PDF. Permanent link: https://www.ias.ac.in/article/fulltext/reso/017/02/0117-0138 ...

Katkenud õpingute teise kõrgkooli "kolimine" nõuab visadust / Agne Narusk, Ene Küüner, Heli Mattisen, Kadri Osula

Index Scriptorium Estoniae

Narusk, Agne

2007-01-01

Pooleli jäänud ülikooliõpingute lõpetamisest. Varasemate õpingute ja töökogemuse arvestamise tingimusi õpingute jätkamisel selgitavad Tartu Ülikooli avatud ülikooli tasemeõppe koordinaator Ene Küüner, Tallinna Ülikooli akadeemiline prorektor Heli Mattisen ja Estonian Business Schoolì õppeosakonna juhataja Kadri Osula

Using Willie's Acid-Base Box for Blood Gas Analysis

Science.gov (United States)

Dietz, John R.

2011-01-01

In this article, the author describes a method developed by Dr. William T. Lipscomb for teaching blood gas analysis of acid-base status and provides three examples using Willie's acid-base box. Willie's acid-base box is constructed using three of the parameters of standard arterial blood gas analysis: (1) pH; (2) bicarbonate; and (3) CO[subscript…

Anatomical variations of the circle of Willis and cerebrovascular accidents in transitional Albania

Directory of Open Access Journals (Sweden)

Edlira Harizi (Shemsi

2015-12-01

Full Text Available Aim: The purpose of this study was twofold: i in a case-control design, to determine the relationship between anatomical variations of the circle of Willis and cerebrovascular accidents; ii to assess the association between anatomical variations of the circle of Willis and aneurisms among patients with subarachnoid hemorrhage. Methods: A case-control study was conducted in Albania in 2013-2014, including 100 patients with subarachnoid hemorrhage and 100 controls (individuals without cerebrovascular accidents. Patients with subarachnoid hemorrhage underwent a CT angiography procedure, whereas individuals in the control group underwent a magnetic resonance angiography procedure. Binary logistic regression was used to assess the association between cerebrovascular accidents and the anatomical variations of the circle of Willis. Conversely, Fisher’s exact test was used to compare the prevalence of aneurisms between subarachnoid hemorrhage patients with and without anatomical variations of the circle of Willis. Results: Among patients, there were 22 (22% cases with anatomical variations of the circle of Willis compared with 10 (10% individuals in the control group (P=0.033. There was no evidence of a statistically significant difference in the types of the anatomical variations of the circle of Willis between patients and controls (P=0.402. In age- and-sex adjusted logistic regression models, there was evidence of a significant positive association between cerebrovascular accidents and the anatomical variations of the circle of Willis (OR=1.87, 95%CI=1.03-4.68, P=0.048. Within the patients’ group, of the 52 cases with aneurisms, there were 22 (42.3% individuals with anatomical variations of the circle of Willis compared with no individuals with anatomical variations among the 48 patients without aneurisms (P<0.001. Conclusion: This study provides useful evidence on the association between anatomical variations of the circle of Willis and

What Causes Prader-Willi Syndrome?

Science.gov (United States)

... a fundamental role in regulating hunger and fullness. Maternal uniparental disomy (pronounced yoo-nuh-puh-REN-tl ... 2018). Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural ...

Circle of willis and its variations; morphometric study in adult human cadavers

OpenAIRE

Raghavendra, Shirol VS, Daksha Dixit, Anil Kumar Reddy Y, Desai SP

2014-01-01

Background and Objectives: Circle of Willis plays a vital role in collateral circulation and redistribution of blood to all areas of the brain. Variation in circle of Willis is known to cause grave disorders like cerebrovascular disorders, subarachnoid haemorrhage, cerebral aneurysm and schizophrenia. The objectives of the present study are to study the formation and branching pattern of circle of Willis and also to study the distribution of variations. MATERIALS & Methods: The study was cond...

Case report: severe asymptomatic hyponatremia in Prader-Willi Syndrome.

Science.gov (United States)

Landau, Daniel; Hirsch, Harry J; Gross-Tsur, Varda

2016-02-18

Prader-Willi syndrome is a complex neurogenetic, multisystem disorder. Despite the variable endocrine abnormalities and hypothalamic-pituitary axis dysfunction, hyponatremia has been reported in only a few PWS patients. In previously reported PWS individuals, hyponatremia was associated with abnormal fluid intake or during desmopressin treatment. We describe an infant with Prader-Willi syndrome who had severe, prolonged asymptomatic hyponatremia without a history of excessive fluid intake or desmopressin treatment. We compare the findings with those of the few other reported cases and describe, for the first time, results of a hypertonic saline infusion test and studies of adrenal cortical function. Hyponatremia should be suspected in children with Prader-Willi syndrome, especially in infants with severe failure to thrive. Further studies are needed to determine the pathophysiology of hyponatremia in this syndrome.

Migraine without aura is not associated with incomplete circle of Willis

DEFF Research Database (Denmark)

Ezzatian-Ahar, Shabnam; Amin, Faisal Mohammad; Obaid, Hayder Ghani

2014-01-01

the prevalence of incomplete circle of Willis in migraineurs and controls. In the present study we compared the prevalence of incomplete circle of Willis in female migraine patients without aura to female healthy non-migraine controls.Using 3-Tesla magnetic resonance angiography we recorded three...

Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities.

Science.gov (United States)

Rocha, C F; Paiva, C L A

2014-03-31

Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.

Treatment of a Prader-Willi Patient with Recurrent Catatonia

Directory of Open Access Journals (Sweden)

Hana M. Poser

2015-01-01

Full Text Available Prader-Willi is a genetic disorder characterized by neonatal hypotonia, hyperphagia, short stature, hypogonadism, and mental delay. This disorder can result from multiple mechanisms, most commonly a deletion of paternal chromosome 15, leaving a single maternally derived chromosome 15. Individuals who have a maternal uniparental disomy of chromosome 15 have a higher risk for developing psychosis compared to other forms of Prader-Willi. The following report details the treatment course of a 24-year-old female with Prader-Willi and recurrent catatonia. The patient initially had a positive lorazepam challenge test but subsequently failed treatment with benzodiazepines. She then received eight electroconvulsive therapy (ECT treatments after which she showed improvement from initial catatonic state. However, the resolution in her symptoms did not follow a linear course but would show periods of improvement followed by a return of catatonic features. This case provides an example of the complexity of treatment of a patient with a genetic disorder and recurrent catatonia.

Circle of willis and its variations; morphometric study in adult human cadavers

Directory of Open Access Journals (Sweden)

Raghavendra, Shirol VS, Daksha Dixit, Anil Kumar Reddy Y, Desai SP

2014-04-01

Full Text Available Background and Objectives: Circle of Willis plays a vital role in collateral circulation and redistribution of blood to all areas of the brain. Variation in circle of Willis is known to cause grave disorders like cerebrovascular disorders, subarachnoid haemorrhage, cerebral aneurysm and schizophrenia. The objectives of the present study are to study the formation and branching pattern of circle of Willis and also to study the distribution of variations. MATERIALS & Methods: The study was conducted on 50 adult brain specimens. Each brain was removed in one piece by dissection and the circle of Willis was observed for its formation, pattern and variations. Results: Among the 50 specimens studied, 28 cases (56% had a normal pattern of circle of Willis and variations were observed in the remaining 22 cases (44%. More number of variations was observed on the right side than on the left side. The most common variation observed was hypoplastic posterior communicating artery (7 cases, 31.8%. Posterior communicating artery was found to be the most variable vessel while middle cerebral artery was the least variable vessel. Interpretation and Conclusion: The results with respect to the circle of Willis and all its component arteries were consistent with the results in the available literature. The only exception was the increased incidence of absence of both the anterior and posterior communicating arteries. This finding is of clinical significance to neurologists and neurosurgeons in this geographical location of north Karnataka. A higher incidence of variations in the communicating arteries is likely to manifest as a higher incidence in disorders like migraine, schizophrenia and cerebrovascular disorders due to compromised collateral circulation and poor redistribution of blood.

MEMORIAL SYMPOSIUM:
Willi Jentschke

CERN Multimedia

CERN. Geneva

2002-01-01

- Welcome by L. Maiani - Message from DESY by E. Lohrmann - Willi Jentschke by H. Schopper - The Neutral Currents by M. Veltman and D. Perkins - The ISR in Jentschke's time by K. Johnsen - Some recollections of Jentschke by K. WinterNote: Participants are cordially invited to drinks at 17h.30 following the symposium

Behavioral and emotional manifestations in a child with Prader-Willi syndrome.

Science.gov (United States)

Mohapatra, Satyakam; Panda, Udit Kumar

2016-04-25

Prader-Willi syndrome is a neurodevelopmental disorder characterized by mental retardation and distinct physical, behavioral, and psychiatric features. Maladaptive behaviours, cognitive impairment, and impediments in speech and language seriously affect the early development and long-term functioning of individuals affected by the illness. We present a case of a 9-year-old child with Prader-Willi syndrome whose behavioural symptoms were treated with low-dose antipsychotic medications.

Migraine with aura is associated with an incomplete circle of willis: results of a prospective observational study.

Directory of Open Access Journals (Sweden)

Brett Cucchiara

Full Text Available To compare the prevalence of an incomplete circle of Willis in patients with migraine with aura, migraine without aura, and control subjects, and correlate circle of Willis variations with alterations in cerebral perfusion.Migraine with aura, migraine without aura, and control subjects were prospectively enrolled in a 1∶1∶1 ratio. Magnetic resonance angiography was performed to examine circle of Willis anatomy and arterial spin labeled perfusion magnetic resonance imaging to measure cerebral blood flow. A standardized template rating system was used to categorize circle of Willis variants. The primary pre-specified outcome measure was the frequency of an incomplete circle of Willis. The association between circle of Willis variations and cerebral blood flow was also analyzed.170 subjects were enrolled (56 migraine with aura, 61 migraine without aura, 53 controls. An incomplete circle of Willis was significantly more common in the migraine with aura compared to control group (73% vs. 51%, p = 0.02, with a similar trend for the migraine without aura group (67% vs. 51%, p = 0.08. Using a quantitative score of the burden of circle of Willis variants, migraine with aura subjects had a higher burden of variants than controls (p = 0.02. Compared to those with a complete circle, subjects with an incomplete circle had greater asymmetry in hemispheric cerebral blood flow (p = 0.05. Specific posterior cerebral artery variants were associated with greater asymmetries of blood flow in the posterior cerebral artery territory.An incomplete circle of Willis is more common in migraine with aura subjects than controls, and is associated with alterations in cerebral blood flow.

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

Directory of Open Access Journals (Sweden)

Arina Bingeliene

2015-01-01

Full Text Available Prader-Willi syndrome (PWS is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish population to 1 in 54,000 in the United Kingdom. Rarely, the genetic mechanism responsible for Prader-Willi syndrome can be inherited. We report a highly unique case of three siblings who share this condition. This report describes a case of two brothers and one half sister with PWS. All three siblings have sleep-related complaints. The sister died at the age of 24 years in her sleep, with the cause of death reported as obstructive sleep apnea. The outcome was positive in both of the brothers’ cases as a result of professional medical care and specific tailored recommendations implemented by their mother. A review of the relevant literature vis-à-vis sleep and PWS is provided.

Etteheited räsivad pidu / Henri Reeder, Ly Rääsk, Heli Jürgenson ... [jt.] ; intervjueerinud Anneli Aasmäe

Index Scriptorium Estoniae

2009-01-01

Küsimustele tänavusele üldlaulu- ja üldtantsupeole minekust ja peo repertuaari raskusest vastavad Aruküla noortekoori laulja Henri Reeder, Äksi segakoori dirigent Ly Rääsk, üldlaulupeo segakooride liigijuht Heli Jürgenson, Laulu- ja Tantsupeo SA muusikatoimetaja Ave Sopp, Laulu- ja Tantsupeo SA tantsutoimetaja Kadri Tiis , Lüganuse segakoori dirigent Priit-Andres Pärtna ja kolme tantsurühma juhendaja Vändrast Kädi Pärnoja

Prader-Willi Disease: A Case Study.

Science.gov (United States)

Forbus, William R., III

A case study focuses on the characteristics and physical management of a 15-year-old with Prader-Willi Syndrome, a birth defect associated with hypotonia, insatiable appetite, hypogonadism, central nervous system dysfunction, and abnormal growth and development . A literature review addresses studies dealing with behavior modification of obesity…

Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome

OpenAIRE

Bingeliene, Arina; Shapiro, Colin M.; Chung, Sharon A.

2015-01-01

Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. Patients with this condition require multidisciplinary medical care, which facilitates a significant improvement in quality of life. PWS is the first human disorder to be attributed to genomic imprinting. Prevalence varies in the literature, ranging from 1 in 8,000 in the Swedish po...

Absent collateral function of the circle of Willis as risk factor for ischemic stroke

NARCIS (Netherlands)

Hoksbergen, A. W. J.; Legemate, D. A.; Csiba, L.; Csáti, G.; Síró, P.; Fülesdi, B.

2003-01-01

Background. Autopsy studies show a higher prevalence of circle of Willis anomalies in brains with signs of ischemic infarction. Our goal was to examine the collateral function of the circle of Willis in ischemic stroke patients and to assess in a case-control study if a collateral deficient circle

Molecular characterization of a patient presumed to have prader-willi syndrome.

Science.gov (United States)

Falaleeva, Marina; Sulsona, Carlos R; Zielke, Horst R; Currey, Kathleen M; de la Grange, Pierre; Aslanzadeh, Vahid; Driscoll, Daniel J; Stamm, Stefan

2013-01-01

Prader-Willi syndrome (PWS) is caused by the loss of RNA expression from an imprinted region on chromosome 15 that includes SNRPN, SNORD115, and SNORD116. Currently, there are no mouse models that faithfully reflect the human phenotype and investigations rely on human post-mortem material. During molecular characterization of tissue deposited in a public brain bank from a patient diagnosed with Prader-Willi syndrome, we found RNA expression from SNRPN, SNORD115, and SNORD116 which does not support a genetic diagnosis of Prader-Willi syndrome. The patient was a female, Caucasian nursing home resident with history of morbid obesity (BMI 56.3) and mental retardation. She died at age of 56 from pulmonary embolism. SNORD115 and SNORD116 are unexpectedly stable in post mortem tissue and can be used for post-mortem diagnosis. Molecular characterization of PWS tissue donors can confirm the diagnosis and identify those patients that have been misdiagnosed.

Severe tooth wear in Prader-Willi syndrome. A case-control study.

Science.gov (United States)

Saeves, Ronnaug; Espelid, Ivar; Storhaug, Kari; Sandvik, Leiv; Nordgarden, Hilde

2012-05-28

Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome. Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE) scoring system and the individual tooth wear index IA. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected. Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.

Periodontal disease in a patient with Prader-Willi syndrome: a case report

Directory of Open Access Journals (Sweden)

Kitamura Masahiro

2011-07-01

Full Text Available Abstract Introduction Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000. However, descriptions of the oral and dental phenotype are rare. Case presentation We describe the clinical presentation and periodontal findings in a 20-year-old Japanese man with previously diagnosed Prader-Willi syndrome. Clinical and radiographic findings confirmed the diagnosis of periodontitis. The most striking oral findings were anterior open bite, and crowding and attrition of the lower first molars. Periodontal treatment consisted of tooth-brushing instruction and scaling. Home care involved recommended use of adjunctive chlorhexidine gel for tooth brushing twice a week and chlorhexidine mouthwash twice daily. Gingival swelling improved, but further treatment will be required and our patient's oral hygiene remains poor. The present treatment of tooth-brushing instruction and scaling every three weeks therefore only represents a temporary solution. Conclusions Rather than being a direct result of genetic defects, periodontal diseases in Prader-Willi syndrome may largely result from a loss of cuspid guidance leading to traumatic occlusion, which in turn leads to the development of periodontal diseases and dental plaque because of poor oral hygiene. These could be avoided by early interventions to improve occlusion and regular follow-up to monitor oral hygiene. This report emphasizes the importance of long-term follow-up of oral health care by dental practitioners, especially pediatric dentists, to prevent periodontal disease and dental caries in patients with Prader-Willi syndrome, who appear to have problems maintaining their own oral health.

Periodontal disease in a patient with Prader-Willi syndrome: a case report.

Science.gov (United States)

Yanagita, Manabu; Hirano, Hiroyuki; Kobashi, Mariko; Nozaki, Takenori; Yamada, Satoru; Kitamura, Masahiro; Murakami, Shinya

2011-07-28

Prader-Willi syndrome is a complex genetic disease caused by lack of expression of paternally inherited genes on chromosome 15q11-q13. The prevalence of Prader-Willi syndrome is estimated to be one in 10,000 to 25,000. However, descriptions of the oral and dental phenotype are rare. We describe the clinical presentation and periodontal findings in a 20-year-old Japanese man with previously diagnosed Prader-Willi syndrome. Clinical and radiographic findings confirmed the diagnosis of periodontitis. The most striking oral findings were anterior open bite, and crowding and attrition of the lower first molars. Periodontal treatment consisted of tooth-brushing instruction and scaling. Home care involved recommended use of adjunctive chlorhexidine gel for tooth brushing twice a week and chlorhexidine mouthwash twice daily. Gingival swelling improved, but further treatment will be required and our patient's oral hygiene remains poor. The present treatment of tooth-brushing instruction and scaling every three weeks therefore only represents a temporary solution. Rather than being a direct result of genetic defects, periodontal diseases in Prader-Willi syndrome may largely result from a loss of cuspid guidance leading to traumatic occlusion, which in turn leads to the development of periodontal diseases and dental plaque because of poor oral hygiene. These could be avoided by early interventions to improve occlusion and regular follow-up to monitor oral hygiene. This report emphasizes the importance of long-term follow-up of oral health care by dental practitioners, especially pediatric dentists, to prevent periodontal disease and dental caries in patients with Prader-Willi syndrome, who appear to have problems maintaining their own oral health.

Cardiac evaluation in children with Prader-Willi syndrome.

NARCIS (Netherlands)

Marcus, K.A.; Alfen-van der Velden, J. van; Otten, B.J.; Weijers, G.; Yntema, H.G.; Korte, C.L. de; Kapusta, L.

2012-01-01

AIM: To assess cardiac anatomy and myocardial systolic function in children with Prader-Willi syndrome (PWS). METHODS: Physical examination, electrocardiographic (ECG) recordings and transthoracic echocardiograms including two-dimensional speckle tracking echocardiography (2DSTE) were performed and

Willy Wonka pole pedofiil / Alar Niineväli

Index Scriptorium Estoniae

Niineväli, Alar

2005-01-01

Tim Burtoni mängufilm "Charlie ja šokolaadivabrik" Roald Dahli samanimelise raamatu järgi : Ameerika Ühendriigid 2005. Võrreldud sama raamatu 1971.a. ekraniseeringuga "Willy Wonka & the Chocolate Factory" : režissöör Mel Stuart

Caracterización clínico genética del síndrome Prader Willi

OpenAIRE

Travieso Tellez, Anitery; Menéndez García, Reinaldo; Licourt Otero, Deysi

2014-01-01

Introducción: el síndrome Prader Willi es un desorden genético causado por la pérdida de genes contenidos en la región 15q11-q13 del cromosoma paterno. Objetivo: describir las características clínicas y genéticas de los pacientes con síndrome Prader Willi. Material y método: se realizó un estudio descriptivo, de corte transversal, con el universo de 15 pacientes con sospecha de síndrome Prader Willi remitidos a consulta provincial de Genética Clínica durante el año 2013. Se consideraron como ...

Multidisciplinary care in the intensive care unit for a patient with Prader-Willi syndrome: a dental approach.

Science.gov (United States)

Setti, Juliana Santiago; Pinto, Sérgio Felix; Gaetti-Jardim, Ellen Cristina; Manrique, Gustavo Rodrigues; Mendonça, José Carlos Garcia de

2012-03-01

Prader-Willi syndrome is a genetic neurobehavioral disease affecting children's development and resulting in obesity, reduced height, hypotonia, endocrine disorders and cognitive deficits, which may impair oral integrity. This study aims to report on a case involving a white male 15-year-old patient with Prader-Willi syndrome whose oral examination revealed bacterial plaque, gingivitis, poor occlusion, viscous salivation and multiple lip, jugal mucosa, inserted gum and tongue ulcerations. An excision biopsy revealed oral ulcerations typical of herpes, which were considered to be likely to correlate with herpes encephalitis. This result demonstrates that a large portion of the deleterious effects of Prader-Willi syndrome can be attenuated by appropriate diagnosis and early therapeutic intervention, highlighting the role of an integrated multidisciplinary team in the development of therapeutic protocols for Prader-Willi syndrome patients.

Biofeedback therapy for chronic constipation in a patient with Prader-Willi syndrome.

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Corral, Juan E; Kataria, Rahul; Vickers, Dawn; Koutouby, Raghad; Moshiree, Baharak

2015-01-01

Constipation is a common feature of Prader-Willi syndrome. Research exploring the prevalence, cause and treatment options for constipation is limited and lacks objective measurements such as anorectal manometry. We report a case of a 16-year-old lady with Prader-Willi syndrome presenting with rectal pain and constipation for 2 years despite multiple medications and weekly enemas. She also noted passive fecal incontinence that required frequent manual disimpactions. Anorectal manometry revealed an abnormal relaxation of the puborectalis and external sphincter muscles on push maneuvers suggesting dyssynergic defecation and rectal hypersensitivity. Contraction and relaxation of her pelvic muscles were recorded with electromyography. Relaxation of the puborectalis muscle improved significantly after three biofeedback sessions. Patient was successfully tapered off laxatives and has been maintained on linaclotide only. Dyssynergic defecation may be a common finding in Prader-Willi syndrome. In selected cases we recommend anorectal manometry to identify neuromuscular dysfunction and subsequent biofeedback therapy depending on the degree of mental retardation to minimize overuse of laxatives.

Urinary incontinence in persons with Prader-Willi Syndrome

NARCIS (Netherlands)

Gontard, A. von; Didden, H.C.M.; Sinnema, M.; Curfs, L.M.G.

2010-01-01

OBJECTIVE To assess and identify the frequency and type of urinary incontinence (UI), as well as associated symptoms in persons with Prader-Willi syndrome (PWS). PWS is characterized by mental retardation, short stature, obesity and hypogonadism. The behavioural phenotype includes eating problems,

Trabalho fonoaudiologico em oficina de cozinha em um caso de Prader-Willi Kitchen workshop on the speech-language therapeutic processes of a patient with Prader-Willi syndrome

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Nathalia Zambotti

2013-02-01

Full Text Available TEMA: o objetivo deste estudo é descrever e analisar os efeitos do trabalho fonoaudiológico em Oficina de Cozinha, em processo terapêutico de um paciente portador da síndrome de Prader-Willi. PROCEDIMENTOS: a pesquisa é um estudo de caso de uma criança de 5 anos portadora da Síndrome de Prader-Willi, que apresentava atraso de linguagem e transtornos alimentares. A criança participou durante sete meses do processo terapêutico em Oficina de Cozinha, associado à terapia fonoaudiológica individual. O registro do material clínico foi realizado sistematicamente por escrito, ao longo de cada uma das sessões. RESULTADOS: o caso estudado modificou para melhor seu funcionamento miofuncional oral e de linguagem, como por exemplo: organizando sua função mastigatória e ganhando autonomia da capacidade discursiva. Assumindo a indissociabilidade entre o orgânico e o psíquico, a criança, que apresenta marcas orgânicas advindas da Síndrome, usufruiu de potencialidades da Oficina de Cozinha. CINCLUSÃO: as Oficinas de Cozinha, na condição de dispositivo terapêutico fonoaudiológico, mostrou-se pertinente à articulação biopsíquica no tratamento de pacientes cujas marcas orgânicas determinam limites e especificidades à aquisição e à circulação na linguagem, como são os casos de portadores da síndrome de Prader-Willi.BACKGROUND: describe and analyze the effects of the speech-language work in the Kitchen Workshop on the therapeutic processes of a patient with Prader-Willi syndrome. PROCEDURES: the research is a clinical case study on one child, 5-year old, with Prader-Willi Syndrome, with a delay in speech and feeding problems. The child took part during seven months of the therapeutic process in Kitchen Workshop, associated with individual speech therapy. The clinical material was recorded systematically in writing throughout each one of the sessions. RESULTS: the studied case ameliorated his myo-functional oral functioning and

Trabalho fonoaudiologico em oficina de cozinha em um caso de Prader-Willi Kitchen workshop on the speech-language therapeutic processes of a patient with Prader-Willi syndrome

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Nathalia Zambotti

2011-01-01

Full Text Available TEMA: o objetivo deste estudo é descrever e analisar os efeitos do trabalho fonoaudiológico em Oficina de Cozinha, em processo terapêutico de um paciente portador da síndrome de Prader-Willi. PROCEDIMENTOS: a pesquisa é um estudo de caso de uma criança de 5 anos portadora da Síndrome de Prader-Willi, que apresentava atraso de linguagem e transtornos alimentares. A criança participou durante sete meses do processo terapêutico em Oficina de Cozinha, associado à terapia fonoaudiológica individual. O registro do material clínico foi realizado sistematicamente por escrito, ao longo de cada uma das sessões. RESULTADOS: o caso estudado modificou para melhor seu funcionamento miofuncional oral e de linguagem, como por exemplo: organizando sua função mastigatória e ganhando autonomia da capacidade discursiva. Assumindo a indissociabilidade entre o orgânico e o psíquico, a criança, que apresenta marcas orgânicas advindas da Síndrome, usufruiu de potencialidades da Oficina de Cozinha. CINCLUSÃO: as Oficinas de Cozinha, na condição de dispositivo terapêutico fonoaudiológico, mostrou-se pertinente à articulação biopsíquica no tratamento de pacientes cujas marcas orgânicas determinam limites e especificidades à aquisição e à circulação na linguagem, como são os casos de portadores da síndrome de Prader-Willi.BACKGROUND: describe and analyze the effects of the speech-language work in the Kitchen Workshop on the therapeutic processes of a patient with Prader-Willi syndrome. PROCEDURES: the research is a clinical case study on one child, 5-year old, with Prader-Willi Syndrome, with a delay in speech and feeding problems. The child took part during seven months of the therapeutic process in Kitchen Workshop, associated with individual speech therapy. The clinical material was recorded systematically in writing throughout each one of the sessions. RESULTS: the studied case ameliorated his myo-functional oral functioning and

Analysis of the symmetric configuration of the circle of Willis in a series of autopsied corpses.

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Stojanović, Nebojga; Stefanović, Ivica; Kostić, Aleksandar; Radisavejević, Misa; Stojanov, Dragan; Petrović, Sladjana

2015-04-01

The forming of the blood vessels network configuration at the base of the brain and interconnecting of blood vessels during the embryogenesis is directly related to the phylogenetic development of the brain and brain structures. A blood vessel configuration at the brain base, in the form of a ring or a hexagon, stands in direct relation to the perfusion needs of certain parts of the brain during its primary differentiation. The aim of this paper was to determine the incidence of certain blood vessel configurations at the base of the brain and understanding their symmetry or asymmetry. Analysis of the blood vessels at the base of the brain was performed on the autopsied subjects. The object of observation was the anterior segment of the circle of Willis consisting of C1- a. carotis interna (ICA), above a. communicaus posterior (PcoA), the segment A1 a. cerebri anterior (ACA) from a. carotis interna bifurcation to the a. communicans anterior (AcoA) and a communicans anterior itself, as well as the posterior segment consisting of PcoA and the segment P1--a. cerebri posterior (PCA) from the a. basilaris bifurcation to the PcoA. For the purpose of grouping the findings, the four basic configuration types of the circle of Willis were identified based on its symmetry or asymmetry. Type-A (symmetric circle of Willis), type-B (asymmetric circle of Willis' due to the unilateral hypoplastic A1-ACA); type-C (symmetric circle of Willis with bilateral symmetric changes on PcoA) and type-D (asymmetric circle of Willis due to the asymmetric changes on PcoA). Autosy was performed on 56 corpses. A total of 41 (73.2%) subjects were recorded with a symmetric configuration of the circle of Willis', of which 27 (48.2%) subjects had type A and 14 (25%) type C. The asymmetric configuration was present in 15 (26.8%) subjects, of whom 9 (16%) had type B and 6 (10.8%) subjects, of whom 9 (16%) had type B and 6 (10.8%) type D. The symmetric Willis group (73.2%) did not have a homogeneous

Analysis of the symmetric configuration of the circle of Willis in a series of autopsied corpses

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Stojanović Nebojša

2015-01-01

Full Text Available Introduction. The forming of the blood vessels network configuration at the base of the brain and interconnecting of blood vessels during the embryogenesis is directly related to the phylogenetic development of the brain and brain structures. A blood vessel configuration at the brain base, in the form of a ring or a hexagon, stands in direct relation to the perfusion needs of certain parts of the brain during its primary differentiation. The aim of this paper was to determine the incidence of certain blood vessel configurations at the base of the brain and understanding their symmetry or asymmetry. Methods. Analysis of the blood vessels at the base of the brain was performed on the autopsied subjects. The object of observation was the anterior segment of the circle of Willis consisting of C1- a. carotis interna (ICA, above a. communicaus posterior (PcoA, the segment A1 a. cerebri anterior (ACA from a. carotis interna bifurcation to the a. communicans anterior (AcoA and a. communicans anterior itself, as well as the posterior segment consisting of PcoA and the segment P1 - a. cerebri posterior (PCA from the a. basilaris bifurcation to the PcoA. For the purpose of grouping the findings, the four basic configuration types of the circle of Willis were identified based on its symmetry or asymmetry. Type-A (symmetric circle of Willis, type-B (asymmetric circle of Willis' due to the unilateral hypoplastic A1-ACA; type-C (symmetric circle of Willis with bilateral symmetric changes on PcoA and type-D (asymmetric circle of Willis due to the asymmetric changes on PcoA. Results. Autopsy was performed on 56 corpses. A total of 41 (73.2% subjects were recorded with a symmetric configuration of the circle of Willis', of which 27 (48.2% subjects had type A and 14 (25% type C. The asymmetric configuration was present in 15 (26.8% subjects, of whom 9 (16% had type B and 6 (10.8% type D. The symmetric Willis group (73.2% did not have a homogeneous finding that

Prader-Willi Syndrome in Two Institutionalized Older Adults.

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Goldman, Jeri J.

1988-01-01

Two case reports are presented of institutionalized women who were diagnosed as having Prader-Willi syndrome at the ages of 54 and 69. Implications are discussed for management of such persons and for program planning/funding for a much longer life expectancy than earlier realized. (Author/JDD)

Psychiatric disorders and behavioral problems in children with Prader-Willi syndrome and the effects of growth hormone treatment

NARCIS (Netherlands)

S.T. Lo (Sinddie)

2015-01-01

markdownabstract__Abstract__ This thesis includes studies about developmental, behavioral and psychiatric characteristics in children with Prader-Willi syndrome (PWS). Endocrinologists Prader, Labhart, and Willi were the first describing the combination of neonatal hypotonia, short

Endocrine management of children with Prader–Willi syndrome

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Medeiros CB

2013-10-01

Full Text Available Clarice Borschiver Medeiros,1 Ana Paula Bordallo,1 Flavio Moutinho Souza,2 Paulo Ferrez Collett-Solberg1,31Endocrinology Unit, Departamento de Medicina Interna, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro (UERJ, Rio de Janeiro, Brazil; 2Pediatric Endocrinology Unit, Departamento de Pediatria, Hospital Federal Cardoso Fontes – Ministério da Saúde do Brasil, Brasília, Brazil; 3Laboratório de Pesquisas Clínicas e Experimentais em Biologia Vascular (BioVasc, Universidade do Estado do Rio de Janeiro (UERJ, Rio de Janeiro, BrazilAbstract: Prader–Willi syndrome is a rare genetic condition afflicting nearly 1/15,000 live births. Clinical features include neonatal hypotonia, poor weight gain in early infancy followed by binge eating from childhood to adulthood, severe obesity, developmental delay, short stature, and hypogonadism of both central and peripheral etiology. Central hypothyroidism and adrenal insufficiency may occur. Sleep disordered breathing, by obstruction of upper airways associated with central hypoventilation, is a common feature. Most of these characteristics are assumed to be the result of a hypothalamic dysfunction. The most important complication and the most difficult to manage is the obesity. This review aims at discussing the most recent strategies to manage the endocrine complications of Prader–Willi syndrome patients, with a special approach on the treatment of obesity, hypogonadism, and short stature. We summarize the indication and effects of recombinant human growth hormone therapy on growth, cognitive development, and body composition, and discuss the effects of recombinant human growth hormone therapy on the resulting sleep disorders.Keywords: Prader–Willi syndrome, obesity, hypogonadism, growth hormone, sleep disorder

SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.

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Fontana, P; Grasso, M; Acquaviva, F; Gennaro, E; Galli, M L; Falco, M; Scarano, F; Scarano, G; Lonardo, F

2017-10-01

Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive multiplex ligation-dependent probe amplification (MLPA. The patient showed neonatal hypotonia, hyperphagia, obesity, central hypogonadism, hypothyroidism, strabismus. Stature and intellectual development are within the normal range. The presence of macrocephaly, observed in other cases of SNORD116 deletions as well, is uncommon for the classic phenotype of the syndrome. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Presence of anatomical variations of the circle of Willis in patients undergoing surgical treatment for ruptured intracranial aneurysms

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Stojanović Nebojša

2009-01-01

Full Text Available Background/Aim. The presence of aneurysmal changes on the brain blood vessels has been subject to numerous research. This study investigated the relation between ruptured aneurysms and anatomical configuration of the Circle of Willis, with the purpose to obtain an insight into their mutual connection. Methods. The analysis included 114 patients suffering from ruptured intracranial aneurysms. Preoperative cerebral angiography was performed and compared with the intraoperative findings in order to attain a precise insight into morphological changes occurring on the circle of Willis. Results. The prevalence of asymmetrical Willis in the whole group of patients was 64%. Within the group of patients suffering from multiple aneurysms, the presence of asymmetrical Willis' circle was 75.7%. The highest incidence of the asymmetrical Circle of Willis was found among patients with aneurysmal rupture detected at the anterior comunicative artery (ACoA site (72.7% among cases with solitary and 100% among those with multiple aneurysms. Morphological changes on the A1 segment of ACoA were observed in 50 (44% cases, with higher incidence found on the right side (60%. When comparing location of ruptured aneurysms between genders, a statistically significant prevalence of the ruptured aneurisms on ACoA was present in men, whereas women showed higher incidence of ruptured aneurysms on interior cartid artery (ICA site (p < 0.01. The linkage between aneurysms with hypoplasia of the A1 segment of ACA and decreasing of the angle at which segments A1 and A2 join suggests the relationship between their onset, corresponding configuration type of Willis and subsequent hemodynamic changes. Conclusion. High incidence of asymmetry of Willis circle in the group of patients with ruptured aneurysms imply association of asymmetrical configuration and disorder in haemodynamic relations with forming and rupture of intracranial aneurysms.

Causes of death in Prader-Willi syndrome: Prader-Willi Syndrome Association (USA) 40-year mortality survey.

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Butler, Merlin G; Manzardo, Ann M; Heinemann, Janalee; Loker, Carolyn; Loker, James

2017-06-01

Prader-Willi syndrome (PWS) is a rare, complex, neurodevelopmental genetic disorder that is associated with hyperphagia and morbid obesity in humans and leads to a shortened life expectancy. This report summarizes the primary causes of death and evaluates mortality trends in a large cohort of individuals with PWS. The US Prader-Willi Syndrome Association (PWSA (USA)) syndrome-specific database of death reports was collected through a cursory bereavement program for PWSA (USA) families using a brief survey created in 1999. Causes of death were descriptively characterized and statistically examined using Cox proportional hazards. A total of 486 deaths were reported (263 males, 217 females, 6 unknown) between 1973 and 2015, with mean age of 29.5 ± 16 years (2 months-67 years); 70% occurred in adulthood. Respiratory failure was the most common cause, accounting for 31% of all deaths. Males were at increased risk for presumed hyperphagia-related accidents/injuries and cardiopulmonary factors compared to females. PWS maternal disomy 15 genetic subtype showed an increased risk of death from cardiopulmonary factors compared to the deletion subtype. These findings highlight the heightened vulnerability to obesity and hyperphagia-related mortality in PWS. Future research is needed to address critical vulnerabilities such as gender and genetic subtype in the cause of death in PWS.Genet Med advance online publication 17 November 2016.

Birth prevalence of Prader-Willi syndrome in Australia.

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Smith, A; Egan, J; Ridley, G; Haan, E; Montgomery, P; Williams, K; Elliott, E

2003-03-01

This is the first population based study to estimate the birth prevalence of DNA proven Prader-Willi syndrome. Thirty infants were reported to the Australian Paediatric Surveillance Unit between 1998 and 2000, a prevalence of 4 per 100,000 live births or approximately 1/25,000 live births per annum.

Experience of severe desaturation during anesthetic induction period in an obese adult patient with Prader-Willi syndrome -A case report-.

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Choi, Joon Woo; Kim, Eun-Ju; Min, Byung Woo; Ban, Jong Seouk; Lee, Sang Gon; Lee, Ji-Hyang

2012-02-01

Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experienced desaturation and bronchospasm during arteriovenous fistula surgery in an obese adult with Prader-Willi syndrome.

The itinerary of a non-medal olympic athlete: Willy Seewald (*1900 +1929

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Janice Zarpellon Mazo

2017-07-01

Full Text Available This research investigates the Willy Seewald Olympic sports journey, since the time he started playing sports, through their participation in the Olympic Games in 1924, until the end of his sporting career in the late 1920s. The sources used in this study were interviews, newspapers, magazines, official documents and Seewald family personnel collection. The information extracted and interpreted by document analysis, revealed that Willy Seewald, in addition to practicing a wide range of sports, achieved high performance in Olympic sport Javelin Throw and has shown by his conduct that the Olympic values were incorporated in its habitus.

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

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Sakthivel, Muthukumar; Hughes, Stephen M; Riley, Phil; Arkwright, Peter D; Mukherjee, Anindya; Ramsden, Simon; Urquhart, Jill; Crow, Yanick J

2011-12-01

The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. Copyright © 2011 Wiley Periodicals, Inc.

Polysomnography test and sleep disordered breathing in Prader-Willi syndrome

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Andreea- Iulia Dobrescu1,

2016-12-01

Full Text Available INTRODUCTION Prader Willi syndrome (PWS is a rare condition and represents the most frequent cause of syndromic obesity. Sleep apnea is a life-threatening affection and is documented as the main cause of sudden death in PWS. OBJECTIVES AND BACKGROUND The aim of our study was to evaluate sleep disorders in PWS patients. MATERIALS AND METHODS We used a portable monitor that recorded time in bed (TIB, the air flow in the upper airways, oxygen saturation, heart rate and snoring. The included patients had a positive clinical and molecular diagnosis of PWS. RESULTS The mean of TIB was 439.3±117.19 minutes. We recorded obstructive, central and mixed apnea, hypopnea and short wakes caused by respiratory events that were variable number and duration, in all patients. cardiovascular morbidity and mortality and improved life quality. Moreover, small doses of these drugs proved to be effective even in patients where hemodialysis alone was enough to control blood pressure. CONCLUSIONS Sleep disorders are present in most PWS patients, not only obese ones according to their anatomical particularities. These events prevent the use of growth hormone therapy, the only available treatment that decreases the adipose mass and increase both prognosis and life quality in PWS patients. Graphical abstract: Polysomnography Test in a PWS patient. REFERENCES 1. Vandeleur M, Davey MJ, Nixon GM. Are sleep studies helpful in children with Prader-Willi syndrome prior to commencement of growth hormone therapy? J Paediatr Child Health. 2013;49:238–41. 2. Giordano L, Toma S, Palonta F, Teggi R, Zucconi M, Candia SD, et al. Obstructive sleep apnea in Prader-Willi syndrome: risks and advantages of adenotonsillectomy. Pediatr Med Chir. 2015;37(2. 3. Pavone M, Caldarelli V, Khirani S, Colella M, Ramirez A, Aubertin G, et al. Sleep disordered breathing in patients with Prader-Willi syndrome: A multicenter study. Pediatr Pulmonol. 2015;50:1354–9

Adult Prader-Willi Syndrome: An Update on Management

OpenAIRE

Ho-Ming, Luk

2016-01-01

With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

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

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

2018-01-01

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

Intervjuu American Wind Symphony Orchestra dirigendi Robert Austin Boudreau'ga = Interview with Mr. Robert Austin Boudreau, director of the American Wind Symphony Orchestra / Robert Austin Boudreau ; interv. Heli Ojamaa

Index Scriptorium Estoniae

Boudreau, Robert Austin

2007-01-01

11. IV 2007. a. tehtud telefoniintervjuu Robert A. Boudreau'ga, kellele arhitekt Louis I. Kahn disainis kontserdilaevad Point Counterpoint I (valmis 1961) ja Point Counterppoint II (kavandamist alustati 1966, valmis 1975). Louis I. Kahnist, koostööst arhitektiga ja laevadest. Selgitav kaaskiri arhitekt Heli Ojamaalt. Ill.: I laeva makett, II laeva joonised ja 4 värv. fotot

Adult Prader-Willi Syndrome: An Update on Management

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Luk Ho-Ming

2016-01-01

Full Text Available With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

Circle of Willis variation in a complex stroke presentation: a case report

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Young Carolyn A

2006-03-01

Full Text Available Abstract Background The impact of circle of Willis anatomical variation upon the presentation of stroke is probably underrecognised. Case presentation A 63-year-old right-handed woman developed a left hemiparesis and right leg weakness sequentially following a road traffic accident (RTA. Despite initial concern about the possibility of cervical spinal cord injury, the final diagnosis was bilateral artery-to-artery embolic cerebral infarction with dominant right internal carotid artery. Conclusion The case illustrates the complex presentation of stroke as a pseudo-cervical cord lesion and the impact of circle of Willis anatomical variation upon the expression of large vessel cerebrovascular disease.

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

Visual-Motor Integration in Children with Prader-Willi Syndrome

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Lo, S. T.; Collin, P. J. L.; Hokken-Koelega, A. C. S.

2015-01-01

Background: Prader-Willi syndrome (PWS) is characterised by hypotonia, hypogonadism, short stature, obesity, behavioural problems, intellectual disability, and delay in language, social and motor development. There is very limited knowledge about visual-motor integration in children with PWS. Method: Seventy-three children with PWS aged 7-17 years…

Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

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Izumi, Kosuke; Santani, Avni B; Deardorff, Matthew A; Feret, Holly A; Tischler, Tanya; Thiel, Brian D; Mulchandani, Surabhi; Stolle, Catherine A; Spinner, Nancy B; Zackai, Elaine H; Conlin, Laura K

2013-01-01

Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader-Willi syndrome. We report on two infants with Prader-Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome-wide single-nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post-fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome-wide single-nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader-Willi syndrome. Copyright © 2012 Wiley Periodicals, Inc.

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

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Anderlid, Britt-Marie; Lundin, Johanna; Malmgren, Helena; Lehtihet, Mikael; Nordgren, Ann

2014-02-01

Genetic analyses were performed in a male patient with suspected Prader-Willi syndrome who presented with hypogonadism, excessive eating, central obesity, small hands and feet and cognition within the low normal range. However, he had no neonatal hypotonia or feeding problems during infancy. Chromosome analysis showed a normal male karyotype. Further analysis with array-CGH identified a mosaic 847 kb deletion in 15q11-q13, including SNURF-SNRPN, the snoRNA gene clusters SNORD116 (HBII-85), SNORD115, (HBII-52), SNORD109 A and B (HBII-438A and B), SNORD64 (HBII-13), and NPAP1 (C15ORF2). MLPA confirmed the deletion and the results were compatible with a paternal origin. Metaphase-FISH verified the mosaicism with the deletion present in 58% of leukocytes analyzed. Three smaller deletions in this region have previously been reported in patients with Prader-Willi syndrome phenotype. All three deletions included SNORD116, but only two encompassed parts of SNURF-SNRPN, implicating SNORD116 as the major contributor to the Prader-Willi phenotype. Our case adds further information about genotype-phenotype correlation and supports the hypothesis that SNORD116 plays a major role in the pathogenesis of Prader-Willi syndrome. Furthermore, it examplifies diagnostic difficulties in atypical cases and illustrates the need for additional testing methods when Prader-Willi syndrome is suspected. © 2013 Wiley Periodicals, Inc.

Klinefelter's syndrome and Prader-Willi syndrome: A rare combination

NARCIS (Netherlands)

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

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

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

NARCIS (Netherlands)

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

2007-01-01

In this paper a review is presented of the rare combination of Klinefelter's syndrome and Prader-Willi syndrome (PWS) and a second case of this combination with a uniparental disomy (UPD) etiology of PWS is described. Patients outlined in all other 8 reports and the present case have a PWS

Treatment of traumatic internal carotid artery pseudoaneurysms with willis covered stents: a midterm follow-up result

International Nuclear Information System (INIS)

Wang Wu; Li Minghua; Li Yongdong; Gu Binxian; Fang Chun; Tan Huaqiao; Wang Ju; Zhang Peilei

2010-01-01

Objective: To evaluate the efficacy and mid-term follow-up results of endovascular treatment with Willis covered stent for traumatic pseudoaneurysms located in the internal carotid artery (ICA). Methods: ICA angiography was performed in 38 patients with traumatic brain and neck injury. Of the 38 patients, 13 delayed traumatic pseudoaneurysms were found. All the pseudoaneurysms were treated with Willis covered stents. Follow-up angiography was performed at 1, 3, 6 and 12 months after the procedure, and the results were categorized as complete or incomplete occlusion. Clinical manifestations were graded as full recovery, improvement, unchanged and aggravation. Results: Willis covered stent placement was technically successful in all traumatic pseudoaneurysms. No procedure-related complications occurred. The initial angiographic results showed a complete occlusion in 9 patients, and an incomplete occlusion in 4. The angiographic follow-up within 3-12 months exhibited a complete occlusion in 12 patients and the parent arteries remained patency in all patients. The clinical follow-up observation demonstrated that full recovery was obtained in 11 patients, clinical improvement in one, and unchanged condition in one. No morbidity or mortality occurred. Conclusion: Willis covered stent implantation is a feasible and practical treatment for traumatic pseudoaneurysms located in the ICA. This technique can well preserve the parent artery with excellent therapeutic results. (authors)

Prader-Willi syndrome in South African patients clinical and ...

African Journals Online (AJOL)

Prader-Willi syndrome in. South African patients clinical and molecular diagnosis. A L Christianson, 0 L Viljoen, W S Winship,. M de la Rey, E J van Rensburg. Study objective. ... This probe detects a parent-of-origin-specific methylation imprint at locus ... These studies were undertaken in the Molecular Genetic. Laboratory of ...

CREATION OF A MULTIRESOLUTION AND MULTIACCURACY DTM: PROBLEMS AND SOLUTIONS FOR HELI-DEM CASE STUDY

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L. Biagi

2014-01-01

Full Text Available The work is part of "HELI-DEM" (HELvetia-Italy Digital Elevation Model project, funded by the European Regional Development Fund within the Italy-Switzerland cooperation program. The aim of the project is the creation of a unique DTM for the alpine and subalpine area between Italy (Piedmont, Lombardy and Switzerland (Ticino and Grisons Cantons; at present, different DTMs, that are in different reference frames and have been obtained with different technologies, accuracies, and resolutions, have been acquired. The final DTM should be correctly georeferenced and produced validating and integrating the data that are available for the project. DTMs are fundamental in hydrogeological studies, especially in alpine areas where hydrogeological risks may exist. Moreover, when an event, like for example a landslide, happens at the border between countries, a unique and integrated DTM which covers the interest area is useful to analyze the scenario. In this sense, HELI-DEM project is helpful. To perform analyses along the borders between countries, transnational geographic information is needed: a transnational DTM can be obtained by merging regional low resolution DTMs. Moreover high resolution local DTMs should be used where they are available. To be merged, low and high resolution DTMs should be in the same three dimensional reference frame, should not present biases and should be consistent in the overlapping areas. Cross-validation between the different DTMs is therefore needed. Two different problems should be solved: the merging of regional, partly overlapping low and medium resolution DTMs into a unique low/medium resolution DTM and the merging with other local high resolution/high accuracy height data. This paper discusses the preliminary processing of the data for the fusion of low and high resolution DTMs in a study-case area within the Lombardy region: Valtellina valley. In this region the Lombardy regional low resolution DTM is available, with

Clinical management of behavioral characteristics of Prader–Willi syndrome

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Alan Y Ho

2010-04-01

Full Text Available Alan Y Ho, Anastasia DimitropoulosDepartment of Psychology, Case Western Reserve University, Cleveland, OH, USAAbstract: Prader–Willi syndrome (PWS is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11–q13 that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantrums, obsessive and compulsive behaviors, and mood fluctuations. Individuals with PWS typically have intellectual disabilities (borderline to mild/moderate mental retardation and exhibit a higher overall behavior disturbance compared to individuals with similar intellectual disability. Due to its multisystem disorder, family members, caregivers, physicians, dieticians, and speech-language pathologists all play an important role in the management and treatment of symptoms in an individual with PWS. This article reviews current research on behavior and cognition in PWS and discusses management guidelines for this disorder.Keywords: Prader–Willi syndrome; neurodevelopment, hyperphagia, disability

Prader-willi syndrome: A case report and a Chinese literature review.

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Zhu, Junzhen; Cao, Qinying; Zhang, Ning; Zhao, Lijuan

2013-11-01

Prader-Willi syndrome (PWS) is a genetic disorder, resulting from lack of gene expression on the paternally inherited chromosome 15. It is important to determine diagnostic methods for PWS for early treatment. In this study, we report a newborn with Prader-willi syndrome. We further summarized the genetic testing results in the Chinese literature and the relevance of high resolution chromosome and genome-wide copy number variation analysis. There is a heterozygosis deletion of a 5 Mb region in the paternal chromosome 15q11.3-q13.3 by genome-wide copy number variation analysis. However, there is no abnormality in high resolution chromosome karyotype analysis. In conclusion, genome-wide copy number variation analysis is an effective and specific diagnosis method, which will provide scientific evidence for the clinical diagnosis and early treatment of PWS.

Pituitary-Adrenal Axis in Prader Willi Syndrome

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Olivia S. Edgar

2016-01-01

Full Text Available Purpose: Prader Willi syndrome (PWS is a rare genetic condition that has concurrent endocrinological insufficiencies. The presence of growth hormone deficiency has been well documented, but adrenal insufficiency (AI is not widely reported. A review was conducted to investigate its prevalence and relevance in PWS in both adults and children. Methodology: A literature review was performed with the search terms “Prader-Willi syndrome” and “adrenal insufficiency”. Results: The review found studies disagree on the prevalence and method of investigation of AI in PWS. Case studies demonstrate that patients with PWS are at risk of premature death, often secondary to respiratory infections. The possibility that this may be the result of the inability to mount an effective cortisol response has been studied, with some evidence confirming AI in PWS patients. Most reports agreed AI is present in PWS, however, Farholt et al. showed no HPA axis dysfunction in adults, suggesting that perhaps it is rare in adults, and children should be the focus of further studies. Conclusion: AI is present in some patients with PWS. Further research is required to ensure optimal treatment can be implemented and to prevent premature deaths related to adrenal insufficiency. Clinicians should have a low threshold for testing the adrenal axis and considering treatment for adrenal insufficiency in PWS patients.

Prader-Willie Syndrome in the Practice of Pediatrician. Modern Approaches to the Diagnosis and Treatment

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T.M. Khimenko

2015-05-01

Full Text Available Objective. To familiarize the doctors with diagnostic criteria and modern comprehensive approach to the treatment of children with Prader-Willie syndrome. The problems of treatment with growth hormone, social integration of patients were stressed, a clinical case from practice is presented. The analysis of the scientific literature of leading foreign and domestic authors has been carried out. The article presents the current approaches to early diagnosis based on large and small diagnostic criteria already at the first months of life, indications for molecular-genetic testing by fish-method to detect microdeletions of chromosome 15. A case of Prader-Willi syndrome demonstrates the typical clinical manifestations, the need for a multidisciplinary approach and continuous monitoring of patients. Conclusions. Prader-Willi syndrome has characteristic features that can be detected in most patients during the first six months of life, which will made it possible to carry out timely correction of metabolic and hormonal disorders and to improve quality of life. To clarify the diagnosis, genetic testing, which today became available in most regions of Ukraine, is successfully performed. The question of supporting hormone therapy that enables to adjust significantly the phenotype of patients with Prader-Willi syndrome, providing adequate physical development, is still open. Long-term use of recombinant growth hormone can prevent a number of complications characteristic of the syndrome, and to improve the quality of life for patients in the future.

Life Satisfaction among Mothers of Individuals with Prader-Willi Syndrome

Science.gov (United States)

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

2016-01-01

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

Prader-Willi syndrome, excessive daytime sleepiness, and narcoleptic symptoms: a case report.

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Weselake, Sara V; Foulds, Jessica L; Couch, Robert; Witmans, Manisha B; Rubin, Daniela; Haqq, Andrea M

2014-04-17

Sleep abnormalities, including narcolepsy and cataplexy, are a common feature of Prader-Willi syndrome. Long-term treatment with the central nervous system stimulant modafinil has not been reported. In this case report we present a longitudinal perspective of sleep abnormalities in a nine-year-old Caucasian girl with Prader-Willi syndrome from age two to age nine, and detail the response to treatment with the central nervous system stimulant modafinil. Our patient presented at two years of age with hypersomnia and narcoleptic episodes with cataplectic features. Initial polysomnograph testing revealed adequate sleep efficiency, but increased sleep fragmentation especially during rapid eye movement sleep. The narcoleptic episodes continued and a repeat polysomnograph at age five years confirmed features consistent with narcolepsy. Further sleep studies at six years, including a multiple sleep latency test, demonstrated signs of excessive daytime sleepiness. Treatment with modafinil was initiated at age seven years six months due to persistent hypersomnia and narcoleptic symptoms. Two polysomnograph studies were performed following treatment with modafinil, at age eight years six months and nine years three months. These studies showed excellent sleep efficiency and improvement of rapid eye movement sleep parameters, supporting the beneficial effects of long-term modafinil therapy. Long-term modafinil therapy may ameliorate the sleep disturbances of Prader-Willi syndrome and should be the focus of future clinical trials.

Altered functional brain networks in Prader–Willi syndrome

OpenAIRE

Zhang, Yi; Zhao, Heng; Qiu, Siyou; Tian, Jie; Wen, Xiaotong; Miller, Jennifer L.; von Deneen, Karen M.; Zhou, Zhenyu; Gold, Mark S.; Liu, Yijun

2013-01-01

Prader–Willi syndrome (PWS) is a genetic imprinting disorder characterized mainly by hyperphagia and early childhood obesity. Previous functional neuroimaging studies used visual stimuli to examine abnormal activities in the eating-related neural circuitry of patients with PWS. It was found that patients with PWS exhibited both excessive hunger and hyperphagia consistently, even in situations without any food stimulation. In the present study, we employed resting-state functional MRI techniqu...

Phonologic Abilities of a Preschool Child with Prader-Willi Syndrome.

Science.gov (United States)

Dyson, Alice T.; Lombardino, Linda J.

1989-01-01

A case study follows the development of phonologic abilities in a child with Prader-Willi syndrome, during her enrollment in language and phonologic remediation from age 2:7 to 6:1. Changes in her phonetic inventory, in the set of phonemes used correctly, and in phonologic processes are described. (Author/JDD)

Childhood subdural hemorrhage, macrocephaly, and coagulopathy associated with Prader-Willi syndrome: case report and review of the literature.

Science.gov (United States)

Carr, Robert B; Khanna, Paritosh C; Saneto, Russell P

2012-07-01

A 16-month-old girl with a history of Prader-Willi syndrome and progressive macrocephaly manifested large, bilateral, subdural hemorrhages of differing ages on magnetic resonance imaging. Subsequent evaluation revealed a deficiency of von Willebrand factor, but after repeated evaluations, no conclusive evidence of nonaccidental trauma became apparent. Subdural hemorrhages of varying ages are frequently associated with nonaccidental trauma during early childhood. However, several uncommon conditions may present as subdural hemorrhages and thus mimic nonaccidental trauma. Our patient demonstrates a combination of Prader-Willi syndrome, von Willebrand factor deficiency, and enlargement of the extra-axial spaces. All of these in isolation were associated with subdural hemorrhages. We review the scant literature on subdural hemorrhages in Prader-Willi syndrome and other conditions that mimic nonaccidental trauma. Copyright © 2012 Elsevier Inc. All rights reserved.

Qualidade de vida no trabalho: um estudo de caso das enfermeiras do Hospital Heliópolis Life quality at work: a study of case of the nurses of Heliópolis Hospital

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Lourdes Margareth Leite Pizzoli

2005-12-01

Full Text Available O artigo apresenta um estudo de caso referente à Qualidade de Vida no Trabalho (QVT da população de enfermeiras do Hospital Heliópolis, mediante indicadores baseados nas dimensões do modelo de Richard Walton. Suas dimensões apresentam indicadores amplos que melhor se adaptam à cultura socioeconômica brasileira, adequando-se à condição organizacional da comunidade onde se situa a população-alvo. A instituição é pública, caracterizada por especialidades de alta complexidade, predominância cirúrgica, hospital de referência, em São Paulo. A pesquisa fez parte da dissertação aprovada para mestrado em Ciências da Administração e Valores Humanos no Centro Universitário Capital, em 2002. Pesquisa exploratória, de campo, qualitativa na elaboração fundamental de conceitos para confecção do questionário, e quantitativa nos procedimentos de mensuração das respostas fechadas, com tratamento estatístico por meio de análise descritiva e distribuição das freqüências das variáveis abordadas. Os resultados apresentaram-se positivos quanto à integração, relevância social, oportunidade de uso e ao desenvolvimento das capacidades; e negativos quanto à ausência de reconhecimento pelo trabalho, ausência de plano de carreira, comunicação deficiente e remuneração incompatível com a função.The article presents a study of case referring the verification of Life Quality at Work (LQW of the nurses’ population of Heliópolis Hospital, by means of indicators based on dimensions of the Richard Walton’ model. These dimensions propound wide indicators which better adapt to the Brazilian socioeconomic culture, adapting to the community’s organization structure where situates the target population. The institution is public, characterized by high complexity specialties, with predominance in surgical activity, considered reference hospital, located in São Paulo State, Brazil. The research made part of the dissertation

Tenth annual scientific conference of the Prader-Willi Syndrome Association (USA), July 19, 1995, Seattle, Washington

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Holm, V.A.; Hudgins, L. [Univ. of Washington School of Medicine, Seattle, WA (United States); Cassidy, S.B. [Univ. of Washington School of Medicine, and Children`s Hospital and Medical Center, Seattle, WA (United States)]|[Univ. Hospitals of Cleveland, OH (United States)

1996-09-06

Each year for the last 10 years, scientists conducting research on Prader-Willi syndrome have come together to exchange information during a scientific conference held in conjunction with the annual Prader-Willi Syndrome Association (USA) meeting. Presentations based on submitted abstracts encompass such varied fields as genetics, endocrinology, pediatrics, nutrition, psychology, psychiatry, and education. This year`s scientific conference was held in Seattle, Washington, on July 19, 1995, in conjunction with the 14th PWSA (USA) meeting held July 20-23. Seventeen reports were presented at the scientific meeting, the abstracts of which follow.

Microsurgery for Aneurysms on the Circle of Willis | de Klerk | South ...

African Journals Online (AJOL)

A description of a microsurgical approach for aneurysms on the anterior part of the circle of Willis is given. Certain practical points are stressed. The operative results obtained in 37 consecutive aneurysms operated on in 30 patients are discussed. S. Afr. Med. J., 48, 825 (1974).

[Multiorgan failure associated with hyperthermia in an infant with Prader-Willi syndrome. case report].

Science.gov (United States)

Donoso, Alejandro; Arriagada, Daniela; Campbell, Stephanie; Cruces, Pablo

2013-10-01

Heat stroke is a medical emergency characterized primarily by an elevated core temperature associated with a systemic inflammatory response, which causes multiple organ dysfunction in which encephalopathy predominates. If it is not early treated has high mortality. The Prader-Willi syndrome is a multisystem genetic disorder secondary to an abnormality in long arm chromosome 15 (15q11-q13), characterized by neonatal central hypotonia, developmental delay, hypogonadism, hyperphagia and obesity. These patients are susceptible to developing thermoregulatory problems. We report the case of a 5-month-old infant, in whom a diagnosis of Prader-Willi syndrome was established in the course of a febrile episode without known focus, who developed multiorganic failure and rhabdomyolysis secondary to hyperthermia.

Behavioural and Emotional Disturbances in People with Prader-Willi Syndrome

Science.gov (United States)

Steinhausen, H.-C.; Eiholzer, U.; Hauffa, B. P.; Malin, Z.

2004-01-01

The study of the behaviour profile in subjects with Prader-Willi Syndrome (PWS). A total of fifty-eight 3- to 29-year-old subjects with PWS were studied using a standardized parent report of behavioural and emotional disturbances. There was an increase of behavioural and emotional disturbances for the adolescent and young adult age range, whereas…

Students with Prader-Willi Syndrome: Case Law under the IDEA

Science.gov (United States)

Zirkel, Perry A.

2017-01-01

Prader-Willi Syndrome (PWS) is one of the low-incidence physical disabilities that the literature has not addressed in relation to the Individuals with Disabilities Education Act and its case law applications. To help fill the gap, this relatively brief article provides (a) an introduction of PWS from legal sources; (b) an overview of the IDEA,…

Physiological adaptation after a 12-week physical activity program for patients with Prader-Willi syndrome: two case reports.

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Amaro, Alexandre Slowetzky; Teixeira, Maria Cristina Triguero Veloz; de Mesquita, Maria Luiza Guedes; Rodrigues, Graciele Massoli; Rubin, Daniela Andrea; Carreiro, Luiz Renato Rodrigues

2016-06-23

Physical activity programs are a powerful tool against several diseases including obesity and their comorbidities. Prader-Willi syndrome is the most common genetic disease associated with obesity, and brings with it behavioral and emotional problems that need complex management. Research into the effect of physical activity programs on Prader-Willi syndrome is limited and it is frequently argued that if a physical activity program is too complex, the participants are more likely to drop out. Therefore, in this study, we assessed the physiological adaptation effect of a physical activity program with increasing complexity and load, in a boy and a girl with Prader-Willi syndrome by assessing changes in lipid profile, body composition, and physical fitness parameters. Case 1 was an 11-year-old girl, mixed race (brown), with an intelligence quotient of 68, 52.0 % body fat, and a body mass index of 45.3 kg/m(2). The Prader-Willi syndrome diagnosis was made when she was 5-years old and was found to be due to an imprinting genomic defect. Case 2 was a 14-year-old boy, mixed race (brown), with an intelligence quotient of 74, 48.8 % body fat, and a body mass index of 37.3 kg/m(2). The diagnosis was made when he was 10-years old and was found to be caused by gene deletion. Both participants presented physical characteristics and behavior problems typical of Prader-Willi syndrome. Case 2 presented high blood pressure, high cholesterol and sleep apnea and had to use continuous positive airway pressure to sleep. Both participants were assessed for 12 weeks (three times a week) using a physical activity program designed to improve strength and muscle hypertrophy. The work load was progressively adjusted as necessary and new exercises were added to the program. Prior to the program, the participants' parents received instructions about managing problem behavior and advice about nutrition. After physical activity program several health markers assessed by biological tests and

Face Discrimination Skills in Prader-Willi Syndrome and Autism Spectrum Disorder

Science.gov (United States)

Feldman, Benjamin H.; Dimitropoulos, Anastasia

2014-01-01

Individuals with Prader-Willi Syndrome (PWS) are at risk for autism spectrum disorder (ASD), including socialization problems. The PWS chromosome 15q11-13 maternal uniparental disomy (mUPD) subtype displays greater ASD symptoms than the paternal deletion (DEL) subtype. Since interpreting faces leads to successful socialization, we compared face…

Prader-Willi Syndrome, Management of Impulsivity, and Hyperphagia in an Adolescent.

Science.gov (United States)

Puri, M Rehan; Sahl, Robert; Ogden, Shawwna; Malik, Salma

2016-05-01

The aim of this article is to review related literature on management of hyperphagia and impulsive behaviors in Prader-Willi syndrome (PWS) that includes either naltrexone or bupropion. In this article we also discuss a case of a 13-year-old female with PWS struggling with some behavioral and psychiatric symptoms.

[Prader-Willi syndrome case with proliferative diabetic retinopathy in both eyes treated by early vitrectomy under local anesthesia].

Science.gov (United States)

Hori, Hideyuki; Sato, Yukihiro; Nakashima, Motohiro; Nakajima, Motohiro

2012-02-01

Although patients with Prader-Willi syndrome have a high rate of diabetes, to date, there have been only 4 reported cases (6 eyes) undergoing vitrectomy for proliferative diabetic retinopathy. Herein, we report a case of Prader-Willi syndrome with proliferative diabetic retinopathy that was treated by early vitrectomy OU under local anesthesia. A 30-year-old man was diagnosed as having Prader-Willi syndrome at the age of 2 years and diabetes at age 17. He was referred to our hospital as diabetic retinopathy had been detected in his first ophthalmological examination at age 29. Visual acuity was 0.6 bilaterally. Proliferative retinopathy, with cataract and macular edema, was identified in both eyes. Panretinal photocoagulation was performed on both eyes. However, proliferative membranes developed bilaterally, and vitreous hemorrhage occurred OS. Visual acuity decreased to 0.3 OU. The patient was hospitalized at our internal medicine department for blood glucose control. Subsequently, with an anesthesiologist on standby, a hypnotic sedative was injected intramuscularly, achieving retro-bulbar anesthesia. Combined cataract and vitreous surgery was performed on the left eye. One week later, a similar operation was performed on the right eye. The patient was discharged four days later. In the two years since these operation, visual acuity has been maintained at 0.8 OU. Patients with Prader-Willi syndrome should be examined for early detection and treatment of diabetic retinopathy.

Magnetic resonance angiography (MRA) of the circle of Willis: a prospective comparison with conventional angiography in 54 subjects

International Nuclear Information System (INIS)

Patrux, B.; Laissy, J.P.; Jouini, S.; Kawiecki, W.; Coty, P.; Thiebot, J.

1994-01-01

We prospectively correlated the findings of magnetic resonance angiography (MRA) with those of transfemoral four-vessel angiography in 54 patients to investigate the direction of flow within the circle of Willis. Our primary goal was to assess the direction of flow using the size of the vessel and signal intensity, without saturation techniques. Analysis of the circle of Willis, especially the communicating arteries, was performed double-blind by two groups of two radiologists. Three types of arteries were identified: high flow or cross-cerebral circulation, patent and nonvisualised arteries. Cerebral angiography was the standard for comparison between the two methods. MRA did not reveal any arteries invisible on angiography, thus providing a specificity of 100%. The sensitivity of MRA was 89.2% for the anterior and 81.3% for the posterior communicating arteries, and 100% for the anterior, middle and posterior cerebral arteries. MRA was shown to be a useful technique for the assessment of patency of the circle of Willis. (orig.)

Magnetic resonance angiography (MRA) of the circle of Willis: a prospective comparison with conventional angiography in 54 subjects

Energy Technology Data Exchange (ETDEWEB)

Patrux, B. (Neuroradiology, CHU Charles Nicolle, Rouen (France)); Laissy, J.P. (Neuroradiology, CHU Charles Nicolle, Rouen (France) Dept. of Radiology, CHU Bichat, Paris (France)); Jouini, S. (Neuroradiology, CHU Charles Nicolle, Rouen (France)); Kawiecki, W. (Siemens Medical Systems, Saint-Denis (France)); Coty, P. (Neuroradiology, CHU Charles Nicolle, Rouen (France)); Thiebot, J. (Neuroradiology, CHU Charles Nicolle, Rouen (France))

1994-04-01

We prospectively correlated the findings of magnetic resonance angiography (MRA) with those of transfemoral four-vessel angiography in 54 patients to investigate the direction of flow within the circle of Willis. Our primary goal was to assess the direction of flow using the size of the vessel and signal intensity, without saturation techniques. Analysis of the circle of Willis, especially the communicating arteries, was performed double-blind by two groups of two radiologists. Three types of arteries were identified: high flow or cross-cerebral circulation, patent and nonvisualised arteries. Cerebral angiography was the standard for comparison between the two methods. MRA did not reveal any arteries invisible on angiography, thus providing a specificity of 100%. The sensitivity of MRA was 89.2% for the anterior and 81.3% for the posterior communicating arteries, and 100% for the anterior, middle and posterior cerebral arteries. MRA was shown to be a useful technique for the assessment of patency of the circle of Willis. (orig.)

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

Science.gov (United States)

Wallis, C E; Beighton, P H

1989-01-01

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene. Images PMID:2732995

Severe obstructive sleep disorders in Prader-Willi syndrome patients in southern Italy.

Science.gov (United States)

Canora, Angelo; Franzese, Adriana; Mozzillo, Enza; Fattorusso, Valentina; Bocchino, Marialuisa; Sanduzzi, Alessandro

2018-01-09

Sleep-related disordered breathing (SDB) is very common in paediatric patients affected by Prader-Willi Syndrome (PWS). However, data addressing SBD patterns and their management are lacking. The aim of the present study was to analyse SDB features in 14 PWS patients (age range, 8 months-17 years). Polygraphic registration (PG) during a 12-h nocturnal sleep was performed in all patients. Obstructive and central apnoea indices and oxygen saturation (SpO 2 ) were recorded along with demographic and clinical data. Obstructive sleep apnoea (OSA) was diagnosed in 13/14 patients (92.9%); the mean obstructive apnoea-hypopnea index (OAHI) was 7.6 ± 4.2 events/h with a mean central apnoea index (CAI) of 0.7 ± 1.04 events/h. Time spent with SpO 2 Prader-Willi syndrome. What is New: • Severe obstructive sleep apnoea is the most frequent sleep-related disorder in our case series.

Willis PM 10-2.5 Precision Results, pdf has summary table and SEM images

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U.S. Environmental Protection Agency — Precision data from the SEM and SEM images from the samples. This dataset is associated with the following publication: Peters, T., E. Sawvel, R. Willis, R. West,...

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

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Elena G. Bochukova

2018-03-01

Full Text Available Summary: Transcriptional analysis of brain tissue from people with molecularly defined causes of obesity may highlight disease mechanisms and therapeutic targets. We performed RNA sequencing of hypothalamus from individuals with Prader-Willi syndrome (PWS, a genetic obesity syndrome characterized by severe hyperphagia. We found that upregulated genes overlap with the transcriptome of mouse Agrp neurons that signal hunger, while downregulated genes overlap with the expression profile of Pomc neurons activated by feeding. Downregulated genes are expressed mainly in neuronal cells and contribute to neurogenesis, neurotransmitter release, and synaptic plasticity, while upregulated, predominantly microglial genes are involved in inflammatory responses. This transcriptional signature may be mediated by reduced brain-derived neurotrophic factor expression. Additionally, we implicate disruption of alternative splicing as a potential molecular mechanism underlying neuronal dysfunction in PWS. Transcriptomic analysis of the human hypothalamus may identify neural mechanisms involved in energy homeostasis and potential therapeutic targets for weight loss. : Prader-Willi syndrome (PWS is a genetic obesity syndrome. Bochukova et al. report gene expression changes in the hypothalamus of people with PWS that support neurodegeneration and neuroinflammation as key processes involved in this condition. Keywords: hypothalamus, Prader-Willi syndrome, BDNF, Agrp, obesity, SNORD116

Escoliosis y síndrome de Prader-Willi: a propósito de 5 casos intervenidos quirúrgicamente Escoliose e síndrome de Prader-Willi: análise de cinco casos tratados cirurgicamente Scoliosis and Prader-Willi syndrome: review of five cases treated surgically

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Jose Grass Pedrals

2012-06-01

Full Text Available OBJETIVO: Analizar los resultados y las complicaciones del tratamiento quirúrgico de la escoliosis, en pacientes portadores del Síndrome de Prader-Willi, para verificar si se justifica este tipo de tratamiento. MÉTODOS: Análisis retrospectivo de las fichas clínicas y radiografías de los cinco pacientes portadores del Síndrome de Prader-Willi que consultaron en el Departamento de Escoliosis entre los años 2005 y 2010, y fueron operados. RESULTADOS: La edad de la consulta inicial fue en promedio 3,6 años; el promedio de escoliosis fue 61º, el que aumentó a 65º al momento de la cirugía. El promedio de operaciones realizadas fue 2,8 por paciente, lográndose una corrección promedio de 35%. Los motivos de las reintervenciones fueron pérdida de corrección en 4 casos (28,5%, aflojamiento de ganchos en 2 (14,3% y xifosis referente a la instrumentación en uno (7,1% No hubo complicaciones graves. CONCLUSIONES: Aún cuando la literatura muestra autores poco proclives a indicar cirugía en este tipo de pacientes, por la elevada tasa de complicaciones graves, la ausencia de ellas en nuestro medio hace mantener válidos los mismos criterios quirúrgicos que en escoliosis idiopática.OBJETIVO: Analisar os resultados e as complicações do tratamento cirúrgico da escoliose em pacientes com síndrome de Prader-Willi para verificar se esse tipo de tratamento é justificado. MÉTODOS: Análise retrospectiva dos prontuários clínicos e das radiografias dos cinco pacientes portadores de síndrome de Prader-Willi tratados cirurgicamente no Departamento de Escoliose entre 2005 e 2010. RESULTADOS: A média de idade dos pacientes na consulta inicial foi 3,6 anos. A média de escoliose foi 61º, a qual tinha aumentado para 65º na ocasião da cirurgia. A média de cirurgias realizadas foi 2,8 por paciente, atingindo-se correção média de 35%. Os motivos das re-intervenções foram perda de correção em quatro casos (28,5%, afrouxamento dos ganchos

Intraoperative Adrenal Insufficiency in a Patient with Prader-Willi Syndrome

OpenAIRE

Barbara, David W.; Hannon, James D.; Hartman, William R.

2012-01-01

Prader-Willi syndrome (PW) is a rare genetic disorder with multi-organ system involvement. These patients present many perioperative challenges including sleep-related breathing disorders, morbid obesity, thick salivary secretions, mental retardation, and difficult intravenous access. PW has been suggested to be associated with central adrenal insufficiency. We report a novel case of persistent severe hypotension from previously undiagnosed and asymptomatic adrenal insufficiency in a pediatri...

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

NARCIS (Netherlands)

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

2012-01-01

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

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

NARCIS (Netherlands)

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

2012-01-01

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

The Relationship between Specific Cognitive Impairment and Behaviour in Prader-Willi Syndrome

Science.gov (United States)

Woodcock, K. A.; Oliver, C.; Humphreys, G. W.

2011-01-01

Background: Individuals with Prader-Willi syndrome (PWS) have been shown to demonstrate a particular cognitive deficit in attention switching and high levels of preference for routine and temper outbursts. This study assesses whether a specific pathway between a cognitive deficit and behaviour via environmental interaction can exist in individuals…

Siim Nestor soovitab : Goldie. Kevin Saunderson. Nicole Willis. King Britt / Siim Nestor

Index Scriptorium Estoniae

Nestor, Siim, 1974-

2005-01-01

Popmuusikaüritustest: briti muusik Goldie esineb jungle-muusikaga Tallinnas 21. apr. klubis Privé, DJ Kevin Saunderson 22. apr. klubis Privé, laulja Nicole Willis 27. apr. BonBon Jazz Lounge'il klubis BonBon, Philadelphia muusik King Britt ja Eesti ansambel Broken Time Orchestra esitlevad oma heliplaate

Sex and Genes, Part 1: Sexuality and down, Prader-Willi, and Williams Syndromes

Science.gov (United States)

Watson, Shelley Lynn; Richards, Deborah A.; Miodrag, Nancy; Fedoroff, J. Paul

2012-01-01

Specific genetic syndromes affect individuals' sexual development, experiences, and fertility. Individuals with specific syndromes can also display inappropriate sexual behavior resulting from vulnerabilities presented by their genetic makeup. Using clinical case studies, we discuss the specific impact that Down, Prader-Willi, and Williams…

Management of Speech and Language Impairment in a Case of Prader-Willi Syndrome.

Science.gov (United States)

Edmonston, Nellie K.

1982-01-01

The case report describes the speech and language charactersitics of a five-year-old girl with Prader-Willi syndrome, a congential disorder (characterized by mental retardation and specific physical characteristics), and the language therapy procedures used over a 10-month period. (Author/SW)

Growth hormone usage in Prader-Willi syndrome

OpenAIRE

Damiani, Durval

2008-01-01

A síndrome de Prader-Willi (PWS), com prevalência de 60:1.000.000, é o resultado da perda de parte do cromossomo 15 paterno, em razão da deleção em 56% dos casos, dissomia uniparental materna em 24% dos casos, ou por causa da metilação, fenômeno epigenético, em 18% dos casos. O quadro clínico inicia-se com profunda hipotonia que, especialmente no primeiro ano de vida, torna difícil a alimentação da criança. Conforme melhora a hipotonia, nos primeiros dois anos, por volta do quarto ano de vida...

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.

Blount disease in a case of Prader-Willi syndrome: why is it not as prevalent as in obesity without Prader-Willi syndrome?

Science.gov (United States)

Dulka, Susan; Choudhary, Arabinda Kumar; Methratta, Sosamma; Fortuna, Kristine

2013-05-01

Prader-Willi syndrome (PWS) is a genetic disorder causing multisystem abnormalities with obesity. Obesity is a well established cause of Blount disease. A 7-year-old girl with PWS presented with genu varum of the left knee with deformity of the proximal medial tibial condyle, which was consistent with Blount disease. A lateral physeal stapling and subsequent osteotomy for the left proximal tibia and fibula were performed with improved anatomical alignment. Blount disease has not been reported in the literature in association with PWS despite excessive obesity.

Ravintola konseptia etsimässä : Eksynyt Willi Hirvi

OpenAIRE

Mäntynen, Kaisu

2014-01-01

Opinnäytetyön tarkoituksena oli selvittää, millaisia palveluita Hotelli Jämsä Oy:n ravintolan Willi Hirven tulisi tarjota saadakseen toimintansa kannattavaksi. Ravintolan konsepti hakee suuntaansa, ja yritys halusi toiminnan suunnittelun avuksi tietoa palveluiden käyttäjiltä, sekä heiltä jotka eivät niitä käytä. Tutkimuksen kohteena olivat työnsä puolesta hotellissa majoittuvat asiakkaat ja paikalliset asukkaat, joita haluttaisiin palvella paremmin. Tutkimus oli otteeltaan kvalitatiivinen....

Recognition of Emotion in Facial Expression by People with Prader-Willi Syndrome

Science.gov (United States)

Whittington, J.; Holland, T.

2011-01-01

Background: People with Prader-Willi syndrome (PWS) may have mild intellectual impairments but less is known about their social cognition. Most parents/carers report that people with PWS do not have normal peer relationships, although some have older or younger friends. Two specific aspects of social cognition are being able to recognise other…

Treatment of Covert Food Stealing in an Individual with Prader-Willi Syndrome.

Science.gov (United States)

Maglieri, Kristen, A.; DeLeon, Iser G.; Rodriguez-Catter, Vanessa; Sevin, Bart M.

2000-01-01

A study found verbal reprimands, delivered contingent upon eating prohibited foods, were sufficient to decease the food stealing of a girl (age 14) with Prader-Willi syndrome. Warning stimuli were then successfully used to help her discriminate between permitted/prohibited foods during sessions in which food stealing was not directly observed.…

Microdeletion 15q26.2qter and Microduplication 18q23 in a Patient with Prader-Willi-Like Syndrome: Clinical Findings.

Science.gov (United States)

Dello Russo, Patrizia; Demori, Eliana; Sechi, Annalisa; Passon, Nadia; Romagno, Daniela; Gnan, Chiara; Zoratti, Raffaele; Damante, Giuseppe

2016-01-01

The small interstitial deletion in the long arm of chromosome 15 causing Prader-Willi/Angelman syndrome is well known, whereas cases that report terminal deletions in 15q in association with the Prader-Willi-like phenotype are very rare. By using GTG-banding analysis, metaphase FISH, MLPA analysis, and genome-wide array CGH, we detected an unbalanced translocation involving a microdeletion of the distal part of 15q and a microduplication of the distal part of 18q. The unbalanced translocation was found in a boy that was referred with clinical suspicion of Prader-Willi syndrome. In the 15q-deleted region, 23 genes have been identified, and 13 of them are included in the OMIM database. Among these, the deleted IGFR1, MEF2A, CHSY1, and TM2D3 genes could contribute to the patient's phenotype. Seven genes are included in the duplicated chromosome segment 18q, but only one (CTDP1) is present in the OMIM database. We suggest that the deleted chromosome segment 15q26.2qter may be responsible for the phenotype of our case and may also be a candidate locus of Prader-Willi-like syndrome. © 2016 S. Karger AG, Basel.

The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome.

NARCIS (Netherlands)

Fronczek, R.; Lammers, G.J.; Balesar, R.; Unm, U.A.hopa; Swaab, D.F.

2005-01-01

CONTEXT: Narcoleptic patients with cataplexy have a general loss of hypocretin (orexin) in the lateral hypothalamus, possibly due to an autoimmune-mediated degeneration of the hypocretin neurons. In addition to excessive daytime sleepiness, Prader-Willi syndrome (PWS) patients may show

The number of hypothalamic hypocretin (orexin) neurons is not affected in Prader-Willi syndrome

NARCIS (Netherlands)

Fronczek, Rolf; Lammers, Gert Jan; Balesar, Rawien; Unmehopa, Unga A.; Swaab, Dick F.

2005-01-01

Narcoleptic patients with cataplexy have a general loss of hypocretin (orexin) in the lateral hypothalamus, possibly due to an autoimmune-mediated degeneration of the hypocretin neurons. In addition to excessive daytime sleepiness, Prader-Willi syndrome (PWS) patients may show narcolepsy-like

Willis Eugene Lamb (1913 - 2008) - Passion for precision

International Nuclear Information System (INIS)

Pain, J.C.

2013-01-01

In 1947, Willis Eugene Lamb with Robert Retherford measured a gap between the 2 fine structure levels 2s(1/2) and 2p(1/2) of the hydrogen atom while the Dirac equations gave them the same energy. This discovery called 'Lamb shift' was a driving factor for the development of quantum electrodynamics after the second world war. Lamb has also contributed to various fields of quantum physics, he studied the ejection of electrons by metastable atoms and also the Bose-Einstein condensation. In 1939, he predicted nuclear transitions that led to the discovery of the Moessbauer effect 22 years later

"Hungry Eyes": Visual Processing of Food Images in Adults with Prader-Willi Syndrome

Science.gov (United States)

Key, A. P. F.; Dykens, E. M.

2008-01-01

Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with intellectual disabilities, compulsivity, hyperphagia and increased risks of life-threatening obesity. Food preferences in people with PWS are well documented, but research has yet to focus on other properties of food in PWS, including composition and suitability for…

A Mindfulness-Based Health Wellness Program for an Adolescent with Prader-Willi Syndrome

Science.gov (United States)

Singh, Nirbhay N.; Lancioni, Giulio E.; Singh, Ashvind N.; Winton, Alan S. W.; Singh, Judy; McAleavey, Kristen M.; Adkins, Angela D.

2008-01-01

Individuals with Prader-Willi syndrome have hyperphagia, a characteristic eating disorder defined by a marked delay in the satiety response when compared to controls. This eating disorder has been particularly difficult to control. The authors taught and evaluated effectiveness of regular exercise alone, regular exercise plus healthy eating, and…

Severe tooth wear in Prader-Willi syndrome. A case–control study

Directory of Open Access Journals (Sweden)

Saeves Ronnaug

2012-05-01

Full Text Available Abstract Background Prader-Willi syndrome (PWS is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome. Methods Forty-nine individuals (6-40 years with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE scoring system and the individual tooth wear index IA. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected. Results Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p A was 7.50 (2.60-30.70 in the PWS group and 2.60 (0.90-4.70 among controls (p A; r = 0.82, p A; r = 0.43, p = 0.002. Tooth grinding was also associated with tooth wear in the PWS group, as indicated by the mean VEDE 2.67 ± 1.62 in grinders and 1.14 ± 0.97 in non-grinders (p = 0.001 and median IA values 25.70 (5.48-68.55 in grinders and 5.70 (1.60-9.10 in non-grinders (p = 0.003. Multivariate linear regression analysis was performed with tooth wear as the dependent variable and PWS (yes/no, age, tooth grinding and saliva secretion as independent variables. PWS (yes/no, age and tooth grinding retained a significant association with tooth wear, VEDE (p A (p  Conclusions Our study provides evidence that tooth wear, in terms of both erosion and attrition, is a severe problem in Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.

Sharing the Gift of Jazz: An Interview with Willie L. Hill Jr.

Science.gov (United States)

Howe, Brad

2011-01-01

This article presents an interview with Willie L. Hill Jr., founder and director of the Society for Jazz Education. Currently a professor of music education at the University of Massachusetts-Amherst and the director of the UMass Fine Arts Center, Hill has served as director of education for the Thelonious Monk Institute of Jazz. He is a past…

William J. Willis (1932-2012)

CERN Multimedia

2012-01-01

It is with great sadness that we learned of the passing of our colleague of many years, Bill Willis, who died on 1 November after a short illness.   Active in physics until his very last days, Bill’s career spanned more than 50 years at the forefront of particle physics. After his early career in weak interaction studies using bubble chambers in the USA, he was persuaded to join CERN in 1973, where he was introduced by Jack Steinberger as "the cleverest physicist I've ever met". He was attracted by the physics potential of the CERN ISR to which he brought a vision of a new detector concept – a 4π facility with charged and neutral particle detection capability, which he called the "Impactometer". Its possibility of measuring "missing energy" and the importance of direct lepton detection were prescient concepts of immense discovery potential. The first incarnation of the "Impactometer" ...

Treatment of carotid siphon aneurysms by use of the Willis stent graft: an angiographic and histopathological study

International Nuclear Information System (INIS)

Zhu, Yue-Qi; Li, Ming-Hua; Xie, Jian; Tan, Hua-Qiao; Wang, Jian-Bo; Cheng, Ying-Sheng

2010-01-01

We designed a carotid siphon (CS) aneurysm model in dogs to test a new stent graft (the Willis covered stent) and compared tissue reaction over 12-month follow-up versus a comparison group with stents implanted in straight vessels. Twenty-four saccular sidewall aneurysms (group A) and 12 CS aneurysms (group B) were created surgically. A Willis stent graft was implanted in each aneurysm. Angiography was performed immediately and at 1-, 3-, 6- and 12-month post-implantation to investigate aneurysm isolation, endoleak, stent angulation, parent artery (PA) patency and restenosis. Light and scanning electron microscopy were used to identify aneurysmal sac thrombi, intima hyperplasia and endothelial progress. Immediate angiography demonstrated mild endoleak in two aneurysms and three stent angulations in group B. Follow-up at 12 months revealed resolved endoleaks, occlusion in one PA and mild stenosis in three in group B. In group A, occlusion occurred in one PA and mild stenosis in two. Light microscopy revealed new intima, and all aneurysm sacs were filled with thrombi. In group B, endothelial progress was complete at 12 months, and closely correlated with haemodynamic changes. Application of a Willis stent graft is a feasible method of treating CS aneurysms, and it exhibits a prolonged endothelial progress compared with that in straight vessels. (orig.)

Brookhaven Lab physicist William Willis wins the 2003 W.K.H. Panofsky prize

CERN Multimedia

2003-01-01

William Willis, a senior physicist Brookhaven National Laboratory, has won the American Physical Society's 2003 W.K.H. Panofsky Prize in Experimental Particle Physics. He received the prize, which consists of $5,000 and a certificate citing his contributions to physics, at the APS meeting in Philadelphia on April 6 (1 page).

Cognitive and Adaptive Advantages of Growth Hormone Treatment in Children with Prader-Willi Syndrome

Science.gov (United States)

Dykens, Elisabeth M.; Roof, Elizabeth; Hunt-Hawkins, Hailee

2017-01-01

Background: People with Prader-Willi syndrome (PWS) typically have mild to moderate intellectual deficits, compulsivity, hyperphagia, obesity, and growth hormone deficiencies. Growth hormone treatment (GHT) in PWS has well-established salutatory effects on linear growth and body composition, yet cognitive benefits of GHT, seen in other patient…

Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome

NARCIS (Netherlands)

A. Lukoshe (Akvile); Van Dijk, S.E. (Suzanne E.); G.E. van den Bosch (Gerbrich); A. van der Lugt (Aad); T.J.H. White (Tonya); A.C.S. Hokken-Koelega (Anita)

2017-01-01

textabstractBackground: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional

A 2D finite element implementation of the Fleck–Willis strain-gradient flow theory

DEFF Research Database (Denmark)

Nielsen, Kim Lau; Niordson, Christian Frithiof

2013-01-01

The lay-out of a numerical solution procedure for the strain gradient flow (rate-independent) theory by Fleck and Willis [A mathematical basis for strain-gradient theory – Part II: Tensorial plastic multiplier, 57:1045–1057; 2009, JMPS] has been an open issue, and its finite element implementation...

High unacylated ghrelin levels support the concept of anorexia in infants with Prader-Willi syndrome

NARCIS (Netherlands)

V. Beauloye (Véronique); G. Diène; R.J. Kuppens (Renske); Zech, F. (Francis); Winandy, C. (Coralie); C. Molinas (Catherine); S. Faye; Kieffer, I. (Isabelle); Beckers, D. (Dominique); R. Nergårdh (Ricard); B.P. Hauffa (Berthold); Derycke, C. (Christine); P.J.D. Delhanty (Patric); A.C.S. Hokken-Koelega (Anita); M. Tauber (Maïthé)

2016-01-01

textabstractBackground: Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been described in PWS long before the development of obesity. Ghrelin is

Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

NARCIS (Netherlands)

Festen, D.A.M.; Wevers, M.; Weerd, A.W. de; Bossche, R.A. van den; Duivenvoorden, H.J.; Otten, B.J.; Wit, J.M.; Hokken-Koelega, A.C.S.

2007-01-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley

A Preliminary Analysis of the Phenomenology of Skin-Picking in Prader-Willi Syndrome

Science.gov (United States)

Morgan, Jessica R.; Storch, Eric A.; Woods, Douglas W.; Bodzin, Danielle; Lewin, Adam B.; Murphy, Tanya K.

2010-01-01

To examine the nature and psychosocial correlates of skin-picking behavior in youth with Prader-Willi Syndrome (PWS). Parents of 67 youth (aged 5-19 years) with PWS were recruited to complete an internet-based survey that included measures of: skin-picking behaviors, the automatic and/or focused nature of skin-picking, severity of skin-picking…

Assessment of Sleep and Breathing in Adults with Prader-Willi Syndrome: A Case Control Series

Science.gov (United States)

Yee, Brendon J.; Buchanan, Peter R.; Mahadev, Sri; Banerjee, Dev; Liu, Peter Y.; Phillips, Craig; Loughnan, Georgina; Steinbeck, Kate; Grunstein, Ronald R.

2007-01-01

Objectives: Prader-Willi syndrome (PWS) is a genetic disorder (linked to chromosome 15q11-13) characterized by hypotonia and developmental delay, hyperphagia and obesity, hypersomnia and abnormal sleep, and behavioral problems. Such patients may also be at increased risk of obstructive sleep apnea (OSA), although whether this risk is explained by known risk factors has not previously been directly tested. Our aim was to compare sleep and breathing in an older group of patients with Prader-Willi syndrome with a control group—matched on the basis of age, sex, and body mass index (BMI)—in order to determine which specific features are not explained by these known confounders. Methods: Consecutive patients with PWS attending the PWS clinic at Royal Prince Alfred Hospital Sydney, Australia, were recruited. Age-, sex-, and BMI-matched controls were selected from the Sleep Investigation Unit at Royal Prince Alfred Hospital, and polysomnography-derived sleep and other parameters were compared across the groups. Results: Nineteen subjects with PWS (14 males) were included in the study. Eighteen (95 %) had a total respiratory disturbance index (TRDI) of greater than 5 events per hour, with 4 (21%) having severe obstructive sleep apnea (TRDI ≥ 30 events/hour) and 9 (47%) having evidence of obesity hypoventilation syndrome. Patients with PWS, as compared with the control group, had evidence of more nocturnal hypoxemia, with lower oxyhemoglobin saturations and percentages of sleep time at less than 80% oxyhemoglobin saturation (all p values Prader-Willi syndrome: a case control series. J Clin Sleep Med 2007;3(7):713–718. PMID:18198805

The Transition between the Phenotypes of Prader-Willi Syndrome during Infancy and Early Childhood

Science.gov (United States)

Butler, Jill V.; Whittington, Joyce E.; Holland, Anthony J.; McAllister, Catherine J.; Goldstone, Anthony P

2010-01-01

Aim: Prader-Willi syndrome (PWS) is a genetic disorder historically characterized by two phenotypic stages. The early phenotype in infants is associated with hypotonia, poor suck, and failure to thrive. In later childhood, PWS is associated with intellectual disability, hyperphagia, as well as growth and sex hormone deficiency. Little is known…

The Dual Role of Cerebral Autoregulation and Collateral Flow in the Circle of Willis After Major Vessel Occlusion.

Science.gov (United States)

Kennedy McConnell, Flora; Payne, Stephen

2017-08-01

Ischaemic stroke is a leading cause of death and disability. Autoregulation and collateral blood flow through the circle of Willis both play a role in preventing tissue infarction. To investigate the interaction of these mechanisms a one-dimensional steady-state model of the cerebral arterial network was created. Structural variants of the circle of Willis that present particular risk of stroke were recreated by using a network model coupled with: 1) a steady-state physiological model of cerebral autoregulation; and 2) one wherein the cerebral vascular bed was modeled as a passive resistance. Simulations were performed in various conditions of internal carotid and vertebral artery occlusion. Collateral flow alone is unable to ensure adequate blood flow ([Formula: see text] normal flow) to the cerebral arteries in several common variants during internal carotid artery occlusion. However, compared to a passive model, cerebral autoregulation is better able to exploit available collateral flow and maintain flows within [Formula: see text] of baseline. This is true for nearly all configurations. Hence, autoregulation is a crucial facilitator of collateral flow through the circle of Willis. Impairment of this response during ischemia will severely impact cerebral blood flows and tissue survival, and hence, autoregulation should be monitored in this situation.

Hundred years of history and the future of the Foundation 'Willie Commelin Scholten Phytopathological Laboratory'

NARCIS (Netherlands)

Schippers, B.; Roosje, G.S.

1997-01-01

The past More than a century ago, on December 18th, 1894, the Foundation 'Willie Commelin Scholten Phytopathological Laboratory', in short 'WCS-Foundation' (WCS) , was established in Amsterdam. It was one of the first institutes in the world dedicated to scientific research and higher

Variation in form on the circle of Willis as studied by 3D-TOF MR angiography

International Nuclear Information System (INIS)

Hoshino, Haruhiko; Takagi, Makoto; Inafuku, Tetsuya; Adachi, Tomohide; Segawa, Hiroshi

1996-01-01

The circles of Willis in 2011 patients were examined by 3-dimensional time-of-flight MR angiography in order to evaluate the variations. The A1 segment of the anterior cerebral artery was not found in 4.8% on the right side and in 3.4% on the left side. In the older patients, MRA failed to demonstrate either the right or left A1 segment. A fetal configuration, whereby P1 segments had a smaller diameter than the posterior communicating artery and the posterior cerebral artery derived predominantly from the carotid artery, occurred in 19.8% on the right side and in 16.7% on the left side. MRA did not reveal the posterior communicating artery to be more common in the elderly. The circulatory states in the circle of Willis may alter with aging. (author)

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

OpenAIRE

Crinò A; Fintini D; Bocchini S; Carducci C; Grugni G

2016-01-01

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 li...

Prader-Willi syndrome: a case report with atypical developmental features.

Science.gov (United States)

Sewaybricker, Letícia E; Guaragna-Filho, Guilherme; Paula, Georgette B; Andrade, Juliana G R; Tincani, Bruna J; D'Souza-Li, Lília; Lemos-Marini, Sofia H V; Maciel-Guerra, Andréa T; Guerra-Júnior, Gil

2014-09-01

To describe the case of a male Prader-Willi syndrome (PWS) patient with atypical development features. We report the case of a male adolescent with confirmed diagnosis of PWS which presents atypical phenotype. The patient progressed with spontaneous and complete pubertal development, stature in the normal range, and weight control without any pharmacological treatment, except metformin. PWS is an imprinting paternally inherited disorder of 15q11-13 characterized by hypotonia in infant age, hyperphagia, varied degrees of mental retardation, behavior problems, hypogonadism, short stature, and other less common findings.

An obese young man with uncontrolled diabetes and insatiable hunger: Prader-Willi syndrome

Directory of Open Access Journals (Sweden)

Abilash Nair

2013-01-01

Full Text Available Prader-Willi syndrome (PWS is a rare cause of obesity. With the rising incidence of obesity, clinicians need to be aware of genetic causes of obesity and when to suspect them. A case of PWS, which was diagnosed in adulthood, has been discussed. This case is special because of lack of history of floppiness in infancy and predominance behavioral problems.

The dilemma of diagnostic testing for Prader-Willi syndrome

Science.gov (United States)

Hung, Dorothy

2017-01-01

Although Prader-Willi syndrome (PWS) is a well-described clinical dysmorphic syndrome, DNA testing is required for a definitive diagnosis. A definitive diagnosis can be made in approximately 99% of cases using DNA testing; there are a number of DNA tests that can be used for this purpose, although there is no set standard algorithm of testing. The dilemma arises because of the complex genetic mechanisms at the basis of PWS, which need to be elucidated. To establish the molecular mechanism with a complete work up, involves at least 2 tests. Here we discuss the commonly used tests currently available and suggest a cost—effective approach to diagnostic testing. PMID:28164030

The effects of Bifidobacterium animalis ssp. lactis B94 on gastrointestinal wellness in adults with Prader-Willi syndrome: study protocol for a randomized controlled trial.

Science.gov (United States)

Alyousif, Zainab; Miller, Jennifer L; Sandoval, Mariana Y; MacPherson, Chad W; Nagulesapillai, Varuni; Dahl, Wendy J

2018-04-27

Constipation is a frequent problem in adults with Prader-Willi syndrome. Certain probiotics have been shown to improve transit and gastrointestinal symptoms of adults with functional constipation. The aim of this study is to determine the effect of daily consumption of Bifidobacterium animalis ssp. lactis B94 (B. lactis B94) on stool frequency, stool form, and gastrointestinal symptoms in adults with Prader-Willi syndrome. Adults with Prader-Willi syndrome (18-75 years old, n = 36) will be recruited and enrolled in a 20-week, randomized, double-blind, placebo-controlled, crossover study. Study subjects will be randomized to B. lactis B94 or placebo each for a 4-week period, preceded by a 4-week baseline and followed by 4-week washouts. Subjects will complete daily records of stool frequency and stool form (a proxy of transit time). Dietary intake data also will be collected. Stools, one in each period, will be collected for exploratory microbiota analyses. To our knowledge, this is the first randomized controlled trial evaluating the effectiveness of B. lactis in adults with Prader-Willi syndrome. The results of this study will provide evidence of efficacy for future clinical trials in patient populations with constipation. ClinicalTrials.gov ( NCT03277157 ). Registered on 08 September 2017.

Premature Birth with Complicated Perinatal Course Delaying Diagnosis of Prader-Willi Syndrome

Directory of Open Access Journals (Sweden)

G. Ciana

2011-01-01

Full Text Available Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.

A Characterization of Movement Skills in Obese Children with and without Prader-Willi Syndrome

Science.gov (United States)

Lam, Melanie Y.; Rubin, Daniela A.; Duran, Andrea T.; Chavoya, Frank A.; White, Elizabeth; Rose, Debra J.

2016-01-01

Purpose: The aim of this study was twofold: (a) to measure and compare motor proficiency in obese children with Prader-Willi syndrome (OB-PWS) to that in obese children without PWS (OB), and (b) to compare motor proficiency in OB-PWS and OB to normative data. Method: Motor proficiency was measured using the Bruininks-Oseretsky Test of Motor…

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

OpenAIRE

Crinò, Antonino; Fintini,Danilo; Bocchini,Sarah; Carducci,Chiara; Grugni,Graziano

2016-01-01

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...

Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.

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Ee-Cheng Khor

Full Text Available Prader-Willi Syndrome (PWS, a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within the imprinted Prader-Willi Critical Region (PWCR, including a set of small non-translated nucleolar RNA's (snoRNA. Recently, micro-deletions in humans identified the snoRNA Snord116 as a critical contributor to the development of PWS exhibiting many of the classical symptoms of PWS. Here we show that loss of the PWCR which includes Snord116 in mice leads to a reduced bone mass phenotype, similar to that observed in humans. Consistent with reduced stature in PWS, PWCR KO mice showed delayed skeletal development, with shorter femurs and vertebrae, reduced bone size and mass in both sexes. The reduction in bone mass in PWCR KO mice was associated with deficiencies in cortical bone volume and cortical mineral apposition rate, with no change in cancellous bone. Importantly, while the length difference was corrected in aged mice, consistent with continued growth in rodents, reduced cortical bone formation was still evident, indicating continued osteoblastic suppression by loss of PWCR expression in skeletally mature mice. Interestingly, deletion of this region included deletion of the exclusively brain expressed Snord116 cluster and resulted in an upregulation in expression of both NPY and POMC mRNA in the arcuate nucleus. Importantly, the selective deletion of the PWCR only in NPY expressing neurons replicated the bone phenotype of PWCR KO mice. Taken together, PWCR deletion in mice, and specifically in NPY neurons, recapitulates the short stature and low BMD and aspects of the hormonal imbalance of PWS individuals. Moreover, it demonstrates for the first time, that a region encoding non-translated RNAs, expressed solely within the brain, can regulate bone mass in health

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…

The GH/IGF-I axis and pituitary function and size in adults with Prader-Willi syndrome

NARCIS (Netherlands)

van Nieuwpoort, I.C.; Sinnema, M.; Castelijns, J.A.; Twisk, J.W.; Curfs, L.M.; Drent, M.L.

2011-01-01

Background: In adults with Prader-Willi syndrome (PWS), limited information is available about pituitary function, more specifically the prevalence of growth hormone deficiency (GHD). The aim of this study was to gain more insight into endocrine function in PWS adults, with emphasis on GH secretion.

The modification and the installation of WILLI detector as a rotatable device

International Nuclear Information System (INIS)

Brancus, I. M.; Vulpescu, B.; Badea, A. F.; Bozdog, H.; Duma, M.; Petcu, M.; Aiftimiei, C.; Mitrica, B.; Wentz, J.; Rebel, H.; Bercuci, A.; Mathes, H. J.

2001-01-01

The compact WILLI device, built in IFIN-HH Bucharest (44026'N latitude and 26004'E longitude) at a vertical cut-off rigidity of 5.6 GV, has been used for measurements of the charge ratio in the vertical atmospheric muon flux at momenta bellow 1GeV/c. In this low energy range the studies of muon charge ratio provide information useful for the discussion of the so-called atmospheric neutrino anomaly and for studies of atmospheric neutrino and antineutrino fluxes. The experimental method is based on the observation of the reduced effective lifetime of the negative muons, stopped in matter, as compared to the lifetime of positive muons. Avoiding the difficulties and the systematic errors of magnetic spectrometers, results are obtained with high accuracy, indicating a decrease of the muon charge ratio from 1.30 (at 0.87 GeV/c) to 1.15 (at 0.24 GeV/c). Super-Kamiokande and other experiments find that the ratio of muonic to electronic neutrinos is much smaller than the theoretical production, the effect depending on the incidence angle of the neutrinos. The interpretation of such so-called 'neutrino anomaly' in terms of neutrino oscillations is based on theoretical predictions of the fluxes of the neutrinos of different flavour, based on different hadronic interaction models. A possibility to verify such models is to compare the theoretical predictions for muon flux, which plays a key role in neutrino chain, with the experimental data. Thus, the ratio of the flux of positive to negative muons could provide a sensitive test for models regarding muon and neutrino production. The WILLI detector is a suitable instrument for further investigation of the modulation of muon charge ratio and the neutrino fluxes by the geomagnetic cut-off. The details about the geomagnetic influence have not been explored using the observation of muons with different angles of incidence in zenithal and azimuthal plane. The WILLI detector is now modified in a rotatable set-up, which will allow

Cerebral cross-perfusion and the Circle of Willis: does physiology trump anatomy?

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Musicki K

2017-07-01

Full Text Available Korana Musicki,1 Katherine Victoria Hurst,1,2 Zoltán Molnár,3 Elizabeth Hardy,4 Ashok Handa,1,2 1Department of Vascular Surgery, John Radcliffe Hospital, 2Nuffield Department of Surgical Sciences, 3Department of Physiology, Anatomy and Genetics, University of Oxford, 4Vascular Studies Unit, John Radcliffe Hospital, Oxford, UK Introduction: Cerebral cross-perfusion is essential for ipsilateral brain viability during unilateral insult. Aortic arch and great vessel procedures depend on its function for safe practice, unless adjuncts like shunts are used. This paper assesses the contribution of cerebrovascular anatomy against physiology in determining requisite hemispheric perfusion during carotid endarterectomy (CEA.Materials and methods: A review of shunting requirements for CEAs under locoregional anesthesia (LA at the John Radcliffe Hospital during 1999–2013 was performed. A PubMed search for “Circle of Willis” was screened for all original articles defining cerebrovascular anatomy by postmortem or angiography.Results: Over 14 years, 1137 CEAs were performed under cervical plexus block; during this period, the departmental standard of practice evolved from exclusively general anesthesia to predominantly LA. CEAs performed under LA during the early phase (1999–2003 had a shunt rate of 15.1%, compared to 20% as predicted by stump pressures alone. However, shunting decreased as higher perioperative systolic pressures were routinely practiced; shunt rates were 8.0% during the intermediate (2004–2007 and 6.4% during the later (2008–2013 phase. By comparison, 25 articles characterizing 6414 brains report an intact circle of Willis in 33–35% of people, with a complete hemi-circle anteriorly (77% seen more commonly than posteriorly (42%, and 11–16% deficient in both hemi-circles with no cross-flow.Conclusion: Cerebral cross-perfusion is fundamental for safe CEA. Anatomy of the circle of Willis alone does not itself determine adequacy

Functional Assessment and Behavioral Treatment of Skin Picking in a Teenage Girl With Prader-Willi Syndrome

NARCIS (Netherlands)

Radstaake, M.; Didden, H.C.M.; Bolio, M.M.L.; Lang, R.B.; Lancioni, G.E.; Curfs, L.M.G.

2011-01-01

Skin picking is common in individuals with Prader-Willi Syndrome (PWS) but few treatment studies exist. This study reports the successful functional behavioral assessment (FBA) and treatment of skin picking in a 16-year-old female with PWS. A treatment package based on FBA results consisted of

Staff Members with more than 25 years service at CERN in 2000

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2000-01-01

Allegrini Roberto SL Arimatea Claudio SL Baudic Yves SPL Becquet Christian SL Bergamaschi Angelo ST Bourquin Pierre EST Brand Jean-Paul ST Bresciani Pietro EST Brocard Robert EP Cameron Willie EST Carminati Daniel PS Chasseloup De Laubat Jacques ST Chouvelon Alain TIS Cittolin Sergio EP Cochet Evelyne ST Coly Patrick LHC David Eric EP De Jonge Luit Koert SL Delattre André LHC Detraz Claude Charles EP Dreesen Peter PS Dydak Friedrich EP Favini Pierre EST Ferioli Gianfranco SL Fiebiger Heinz PS Fontbonne Andrée HR Fournel Jacques EST Fournier Gérard AS Fromm Daniel EP Gagliardi Fabrizio IT Gaidon Michèle ST Galbraith Peter LHC Gavaggio Richard LHC Genand Roger SL Gendre Francis PS Geoffroy Michel ST Geretschlager Ingrid ETT Grabit Robert EP Grill Manfred ST Heinze Wolfgang PS Hoh Roger PS Hudry Jean SL Jenny Bernard EST Koutchouk Jean-Pierre SL Laffin Michel SL Laurent Jean-Michel LHC Le Gras Marc PS Legrand Patrick LHC Lerho Jean-Marie ST Lewis Ray ETT Liptow Ulr...

Collateral configuration of the circle of Willis: transcranial color-coded duplex ultrasonography and comparison with postmortem anatomy

NARCIS (Netherlands)

Hoksbergen, A. W.; Fülesdi, B.; Legemate, D. A.; Csiba, L.

2000-01-01

BACKGROUND AND PURPOSE: The anterior communicating artery (AcoA) and posterior communicating arteries (PcoA) of the circle of Willis provide the main route for collateral blood flow in cases of carotid artery obstruction. Transcranial color-coded duplex ultrasonography (TCCD) allows real-time

Cognitive, Emotional, Physical and Social Effects of Growth Hormone Treatment in Adults with Prader-Willi Syndrome

Science.gov (United States)

Hoybye, C; Thoren, M.; Bohm, B.

2005-01-01

Prader-Willi syndrome (PWS) is a multisystem genetic disorder characterized by short stature, muscular hypotonia, hyperphagia, obesity, maladaptive behaviour, hypogonadism and partial growth hormone (GH) deficiency (GHD). Severe GHD of other aetiologies has been shown to affect mood and quality of life negatively, and there are reports of…

Sedation in a Patient with Prader-Willi Syndrome: A Case Report

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Hayrettin Daşkaya

2014-12-01

Full Text Available Prader-Willi syndrome (PWS is a rare disorder characterized by hypotonia, growth retardation, characteristic face shape, hypogonadism, hyperphagia and related morbid obesity. Anesthesia application in these patients has increased risk of peroperative complication due the central hypotonia, abnormal teeth structure, and limited neck mobility. Therefore, clinicians should be prepared for the worst scenario before anesthesia application in patients with PWS during general or out-patient surgery. Here, in this case report, outpatient anesthesia performed in a patient with PWS for diagnostic electromyography is presented with the literature review.

A variety of genetic mechanisms are associated with the Prader-Willi syndrome

Energy Technology Data Exchange (ETDEWEB)

Woodage, T.; Deng, Z.M.; Prasad, M. [Royal Prince Alfred Hospital, Camperdown (Australia)] [and others

1994-09-15

An extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader-Willi chromosome region (PWCR) of chromosome 15 have been used to characterize a cohort of 30 subjects with classical Prader-Willi syndrome (PWS). Molecular analysis enabled the classification of the PWS subjects into four groups: (A) 18 subjects (60%) had deletions of paternal 15q11-13 involving a common set of DNA markers. Two subjects had differently sized deletions, one larger and one smaller than the other cases. (B) Eight (27%) had maternal uniparental disomy for chromosome 15. (C) One (3%) had a marker chromosome carrying an extra copy of the PWCR. The marker chromosome was demonstrated to be of paternal origin and the two intact chromosomes were maternally derived. This case represents an apparent exception to the generally held view that PWS is associated with an absence of paternally inherited gene(s) located in the PWCR. (D) The remaining three cases (10%) had none of the above abnormalities. This last subgroup of patients has not previously been well characterized but could represent limited deletions not detectable with the markers used or abnormalities in the imprinting process. These cases represent potentially valuable resources to elucidate more precisely the fundamental disorders responsible for PWS. 39 refs., 2 figs., 3 tabs.

An anatomical study of normal variations of circle of Willis in 132 fetus, newborn and adult

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Bateni F

2009-09-01

Full Text Available "n Normal 0 false false false EN-US X-NONE AR-SA MicrosoftInternetExplorer4 /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:Arial; mso-bidi-theme-font:minor-bidi;} Background: Several studies have investigated the variations in the anatomy of each segment of circle of Willis whereas a few have addressed the variations of this arterial circle as a whole. In this study the entire circle of Willis and its variations were studied in a cohort of Iranian people and compared with previous reports."n"nMethods: Anatomical variations of the circle of Willis in 132 brains of Iranian cadavers (102 male adults and 30 fetuses and infants were studied. The dissection process was digitally filmed for further studies. Using computer software the external diameters of the vessels were measured and the circle variations were classified. The variations of the circle as a whole and segmental variations were compared with previous studies. "n"nResults: Uni-and bilateral hypoplasia of posterior communicating arteries (PcoAs constituted the most common variation in our study which was similar to previous works. Aplasia of the anterior cerebral artery (A1 and the posterior cerebral artery (P1 were not observed. In 3.3% of fetuses and infants and 3% of adult instances both right and left posterior communicating arteries were absent. There was one case of anterior communicating artery (AcoA aplasia in

Reduced cortical complexity in children with prader-willi syndrome and its association with cognitive impairment and developmental delay

NARCIS (Netherlands)

A. Lukoshe (Akvile); A.C.S. Hokken-Koelega (Anita); A. van der Lugt (Aad); T.J.H. White (Tonya)

2014-01-01

textabstractBackground: Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no

'A one-sided affair': unilateral pulmonary oedema and the role of cardiac MRI in diagnosing premature coronary artery disease in a patient with Prader-Willi syndrome.

Science.gov (United States)

Jabbar, Avais; Khan, Jamal N; Singh, Anvesha; McCann, Gerry P

2013-05-22

There is no formal association between premature coronary artery disease (CAD) and Prader-Willi syndrome despite its association with hyperlipidaemia, diabetes mellitus and hypertension. A 36-year-old man with Prader-Willi syndrome presented with acute breathlessness. Inflammatory markers were borderline elevated and chest radiography demonstrated unilateral diffuse alveolar shadowing. Bronchopneumonia was diagnosed and despite treatment with multiple courses of antimicrobial therapy, there was minimal symptomatic and radiographical improvement. A diagnosis of unilateral pulmonary oedema was suspected. Echocardiography was non-diagnostic due to body habitus and coronary angiography was deemed inappropriate due to uncertainty in diagnosis, invasiveness and pre-existing chronic kidney disease. Therefore, cardiac magnetic resonance was performed, confirming severe triple-vessel CAD. This case demonstrates a presentation of heart failure with unilateral chest radiograph changes in a young patient with Prader-Willi syndrome and severe premature CAD detected by multiparametric cardiac magnetic resonance imaging.

O atleta olímpico brasileiro Willy Seewald: memórias do primeiro recordista nacional do lançamento de dardo

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Janice Zarpellon Mazo

2012-09-01

Full Text Available O presente estudo registra a trajetória do atleta Willy Seewald, que se destacou no cenário esportivo sul-rio-grandense, nacional, e ainda teve uma participação nos Jogos Olímpicos de 1924, em Paris, na prova de lançamento de dardo. Para este estudo histórico foram consultados jornais, revistas, e documentos de acervo pessoal, além da produção de fontes orais por meio da gravação de entrevistas com familiares do atleta. A trajetória de Willy nos mostra que, para ser considerado um cavalheiro praticante do "bom esporte", no Brasil, os requisitos diferiam dos exigidos na Europa.

Life Satisfaction Among Mothers of Individuals with Prader-Willi Syndrome.

Science.gov (United States)

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

2016-06-01

Mothers of individuals with Prader-Willi syndrome (PWS) often experience numerous stressors, even when compared to mothers of children with other intellectual and developmental disabilities. Despite this, these mothers show great variability in self-reported life satisfaction. Using data from a longitudinal study of individuals with PWS and their families, the present study analyzed factors related to maternal life satisfaction, both cross-sectionally and over time. Results show that both child factors (e.g., behavior problems, hyperphagia) and maternal factors (e.g., stress, coping style) were significantly related to maternal life satisfaction. However, none of the tested variables predicted change in life satisfaction over time. Research and practice implications are discussed.

IGF-1 levels, complex formation, and IGF bioactivity in growth hormone-treated children with Prader-Willi syndrome

NARCIS (Netherlands)

Bakker, N. E.; Van Doorn, J.; Renes, J. S.; Donker, G. H.; Hokken-Koelega, A. C S

2015-01-01

Context: Children with Prader-Willi syndrome (PWS) attain high-serum immunoreactive IGF-1 levels during a standard-dose GH treatment, which leads to concern, but lowering the dose deteriorates their body composition. Objective: The objective of the study was to evaluate serum IGF-1, IGF binding

Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

Science.gov (United States)

Bellon-Harn, Monica L.

2005-01-01

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

READING WILLY WONKA IN THE ERA OF ANTI-THINKING.

Science.gov (United States)

Miller, Ian S

2018-04-11

Whether encountered as a movie or novel, Roald Dahl's Charlie and the Chocolate Factory is a childhood staple of postwar Anglophone culture. Originally published in 1964, Dahl's story of "Willie Wonka" is a morality tale for our times addressed by the present essay in relation to the precariousness, violence, intergenerational faith, and materialist fantasies reflective of contemporary life in the early twenty-first century. Compensating for the precarity of contemporary life's impoverishment as assumptions of societal stability are overthrown, this chronicle of the Bucket family details: envious desire validated by large group chosen trauma; authoritarian enslavement of inferior, colonized peoples with murderous, industrial-level human experimentation; toward gratification of the greedy fantasy of unlimited sweetness under the sway of lethal identification with the aggressor.

Divergent structural brain abnormalities between different genetic subtypes of children with Prader–Willi syndrome

OpenAIRE

Lukoshe, Akvile; White, Tonya; Schmidt, Marcus N; van der Lugt, Aad; Hokken-Koelega, Anita C

2013-01-01

Background Prader–Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim was to investigate global brain morphology in children with PWS, including the comparison between different genetic subtypes of PWS. In addition, we performed exploratory cortical and subcortical foc...

Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach

NARCIS (Netherlands)

Verhoeven, W.M.A.; Egger, J.I.M.; Tuinier, S.

2007-01-01

In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the

Collateral variations in circle of willis in atherosclerotic population assessed by means of transcranial color-coded duplex ultrasonography

NARCIS (Netherlands)

Hoksbergen, A. W.; Legemate, D. A.; Ubbink, D. T.; Jacobs, M. J.

2000-01-01

BACKGROUND AND PURPOSE: Transcranial color-coded duplex ultrasonography combined with common carotid artery (CCA) compression can be used to assess the collateral function of the circle of Willis. The aim of this study was to assess the unknown fraction of hemodynamic functional anterior and

The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort

NARCIS (Netherlands)

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

2013-01-01

INTRODUCTION: Adults with Prader-Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention

Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome.

Science.gov (United States)

Blat, Clara; Busquets, Elisenda; Gili, Teresa; Caixàs, Assumpta; Gabau, Elisabeth; Corripio, Raquel

2017-06-07

BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. He presented with two episodes of a rapidly progressing gastric dilatation that led to abdominal hypertension and secondary shock at the age of 2 and 5. No large amount of food was eaten before any of the episodes, and he had abdominal pain and vomiting on both occasions. On arrival at the emergency room, a nasogastric tube was placed and aspiration of food material was performed. Abdominal X-ray and CT scan revealed massive gastric dilatation. He was admitted at the Pediatric Intensive Care Unit and after a variable period of fasting, tolerated oral intake and could be discharged. CONCLUSIONS Gastric dilatation due to gastroparesis in PWS is a rare complication. However, it is a life-threatening situation and physicians should therefore maintain a high level of suspicion for gastric dilatation when patients present with warning symptoms such as abdominal pain or discomfort and vomiting.

Gait Pattern in Two Rare Genetic Conditions Characterized by Muscular Hypotonia: Ehlers-Danlos and Prader-Willi Syndrome

Science.gov (United States)

Cimolin, Veronica; Galli, Manuela; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

This study aimed to quantify and compare the gait pattern in Ehlers-Danlos (EDS) and Prader-Willi syndrome (PWS) patients to provide data for developing evidence-based rehabilitation strategies. Twenty EDS and 19 PWS adult patients were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters…

Caracterización clínico genética del síndrome Prader Willi

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Anitery Travieso Tellez

2014-12-01

Full Text Available Introducción: el síndrome Prader Willi es un desorden genético causado por la pérdida de genes contenidos en la región 15q11-q13 del cromosoma paterno. Objetivo: describir las características clínicas y genéticas de los pacientes con síndrome Prader Willi. Material y método: se realizó un estudio descriptivo, de corte transversal, con el universo de 15 pacientes con sospecha de síndrome Prader Willi remitidos a consulta provincial de Genética Clínica durante el año 2013. Se consideraron como variables clínicas los criterios diagnósticos según Holms, y como variables genéticas los resultados de los estudios cromosómicos y moleculares. Resultados: predominó el sexo femenino en un 66.7%. Las edades estuvieron entre los tres y los 41 años. Los criterios mayores más frecuentes resultaron la obesidad troncular y el retraso del neurodesarrollo en el 100% de los pacientes. Los criterios menores más identificados fueron los disturbios del sueño y las dificultades del lenguaje con un 66.7% cada uno. En ninguno de los casos se detectaron anomalías cromosómicas por cariotipificación. Tres pacientes (60% presentaron la deleción a nivel de la región 15q11-q13 identificada por la técnica de hibridación in sito con fluorescencia. Conclusiones: la definición del diagnóstico en la provincia resulta demorada. Se requiere de reevaluación según los criterios clínicos en las diferentes etapas de la vida para diagnóstico de certeza. La presencia de hipotonía neonatal y dificultades en la alimentación son elementos asociados al diagnóstico por deleción 15q11-q13.

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

DEFF Research Database (Denmark)

Schulze, A; Hansen, Claus; Baekgaard, P

1997-01-01

Prader-Willi syndrome (PWS) is a neuroendocrine disorder caused by a non-functioning paternally derived gene(s) within the chromosome region 15q11-q13. Most cases result from microscopically visible deletions of paternal origin, or maternal uniparental disomy of chromosome 15. In both instances n...

Food addiction and cues in prader-willi syndrome.

Science.gov (United States)

von Deneen, Karen M; Gold, Mark S; Liu, Yijun

2009-03-01

Obesity research has recognized that there are many factors contributing to this devastating disorder. Much debate has arisen among scientists to develop models that might be useful in understanding why obesity has become a major health problem and epidemic. However, much of the current debate has been fractious and causes of obesity have been attributed solely to behavior or fast food, personality issues, depression, addiction, or genetics. One of the neurohormonal and genetic causes has been found in Prader-Willi syndrome (PWS), which results in excessive, pathologic reinforcement of food. We have studied PWS to delineate the neurobiology so that environmental cue stimulation may be explained for PWS. Neuroimaging studies have shown that appetizing food and food cues are associated with appetite stimulation. Appetite control is poor in PWS, thus food cues play a major role in its regulation. Hence, PWS may be the genetic model of choice for obesity.

Treatment of carotid-siphon aneurysms by using willis stent-graft: an angiographic and histopathologic study in dogs

International Nuclear Information System (INIS)

Zhu Yueqi; Li Minghua; Xie Jian; Tan Huaqiao; Cheng Yingsheng; Wang Jianbo

2010-01-01

Objective: To establish a carotid siphon aneurysm model in dogs in order to test the mechanical features of a newly-designed Willis covered stent-graft and to investigate the histological reaction of the stent-implanted vessel during a follow-up period of 12 months. Methods: Twenty-four saccular sidewall aneurysms were surgically created in twelve dogs (group A) and 12 carotid siphon aneurysms in another twelve dogs (group B). A Willis stent-graft was implanted in each aneurysm. Angiography was performed immediately after the procedure and 1, 3, 6 and 12 months after the implantation to investigate the aneurysm isolation, endoleak, stent angulation, and the patency or restenosis of the parent artery. Light and scanning electronic microscopy were used to identify aneurysmal sac thrombi, intima hyperplasia and endothelial progress of the stent-loaded arterial segment. Results: In group B, postoperative immediate angiography demonstrated that two aneurysms had mild endoleak and three stents became angulated. Follow-up exam 12 months after the procedure revealed that all previous endoleaks disappeared, one parent artery became occluded and three parent arteries developed mild stenosis (< 50%). In group A, occlusion of parent artery was seen in one and mild stenosis (< 50%) in 2 cases. Electronic microscopy revealed new intima formation in all stents, and all aneurysmal sacs were filled with thrombi. In group B, the endothelialization process was not completed until 12 months after the stent implantation, and a marked correlation existed between endothelial cell arrangement and the hemodynamic orientation. Conclusion: It is feasible to treat carotid-siphon aneurysm in dog with a Willis stent-graft. The complete endothelialization of the covered stent in tortuous vessel takes longer time than that in rather straight vessel. (authors)

A Paternally Inherited Duplication in the Prader-Willi/Angelman Syndrome Critical Region: A Case and Family Study

Science.gov (United States)

Veltman, Marijcke W. M.; Thompson, Russell J.; Craig, Ellen E.; Dennis, Nicholas R.; Roberts, Sian E.; Moore, Vanessa; Brown, Josie A.; Bolton, Patrick F.

2005-01-01

The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and one of her sisters, carried…

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

De como La Llorona se tornou um Miserere de Willy Corrêa de Oliveira How La llorona became a Miserere by Willy Corrêa de Oliveira

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Mauricio De Bonis

2013-06-01

Full Text Available Em nossa pesquisa sobre o ciclo de peças para piano Miserere, de Willy Corrêa de Oliveira (DE BONIS, 2010 discutimos uma série de procedimentos composicionais pertinentes a essa obra e à produção do compositor em geral, a saber: a metalinguagem, a relação com as artes plásticas, a condensação de ideias, a superposição de citações à maneira de um ideograma, o teatro musical, e a possibilidade de uma análise estrutural de cada peça ao lado de uma leitura semântica (incentivada pela própria partitura. Obra aberta, o Miserere tem recebido adições do compositor após a publicação da pesquisa. As mesmas ferramentas de análise aplicadas para o ciclo todo são aqui utilizadas para o estudo de uma das últimas peças a serem acrescentadas, em 2009.In our research on the cycle of piano pieces called Miserere, by Brazilian composer Willy Corrêa de Oliveira (DE BONIS, 2010 we discuss a series of compositional procedures used in this work and in the composer's production in general, such as borrowings and metalanguage, the relation to visual arts, the condensation of ideas, the superposition of quotations in the manner of an ideogram, musical theater, and the possibility of an structural analysis of each piece side by side with a semantic reading (favored by the score itself. As an open work, the Miserere has received additions by the composer after the publication of this research. The same analytical tools applied to the cycle are here used to study one of the last pieces to join the cycle in 2009.

The Need for Control/Comparison Studies in Establishing Diagnostic Indicators: Prader-Willi Syndrome as a Case in Point.

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Taylor, Ronald L.; Caldwell, Mary Lou

1990-01-01

The psychometric characteristics of 12 adults with Prader-Willi syndrome (PWS) and a group without PWS but with other similar traits were compared. Results found cognitive, behavioral and educational traits often associated with PWS to be present in both groups, illustrating the importance of control/comparison groups in research establishing…

Salivary flow rate and oral findings in Prader-Willi syndrome: a case-control study.

Science.gov (United States)

Saeves, Ronnaug; Nordgarden, Hilde; Storhaug, Kari; Sandvik, Leiv; Espelid, Ivar

2012-01-01

BACKGROUND. Prader-Willi syndrome (PWS) is a rare complex multisystemic genetic disorder. AIM. The objective of this study was to provide a systematic assessment of whole saliva secretion and oral manifestations associated with PWS. DESIGN. Fifty individuals (5-40 years) with PWS and an age- and sex-matched control group were included. Whole saliva was collected. All participants underwent an anamnestic interview. Radiological and dental clinical examinations were carried out to identify hypodontia, dental caries, enamel defects and gingival inflammation. RESULTS. Mean whole salivary flow rate was 0.12 ± 0.11 mL/min in the study group compared with 0.32 ± 0.20 mL/min in the control group (P 19 years was significantly lower in PWS (P = 0.04) compared with the controls. There was no significant difference in the prevalence of dental caries in the primary dentition or in the frequency of enamel defects in the permanent dentition between the two groups. Median Gingival Index was significantly higher in the Prader-Willi group compared with the controls (P = 0.02). CONCLUSIONS. Low salivary flow is a consistent finding in PWS. Nevertheless, despite dry mouth and dietary challenges, dental caries is not increased in Norwegian individuals with PWS. © 2011 The Authors. International Journal of Paediatric Dentistry © 2011 BSPD, IAPD and Blackwell Publishing Ltd.

Randomized controlled trial to investigate the effects of growth hormone treatment on scoliosis in children with Prader-Willi syndrome.

NARCIS (Netherlands)

Lind van Wijngaarden, R.F. de; Klerk, L.W. de; Festen, D.A.M.; Duivenvoorden, H.J.; Otten, B.J.; Hokken-Koelega, A.C.S.

2009-01-01

CONTEXT: The prevalence of scoliosis in children with Prader-Willi syndrome (PWS) is 30-80%, depending on age. Although reports about effects of GH treatment on scoliosis in children with PWS are limited, scoliosis is generally considered a contraindication for GH treatment. OBJECTIVE: The aim was

The Effects of Muscle Hypotonia and Weakness on Balance: A Study on Prader-Willi and Ehlers-Danlos Syndrome Patients

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Galli, Manuela; Cimolin, Veronica; Vismara, Luca; Grugni, Graziano; Camerota, Filippo; Celletti, Claudia; Albertini, Giorgio; Rigoldi, Chiara; Capodaglio, Paolo

2011-01-01

Prader-Willi syndrome (PWS) and Ehlers-Danlos syndrome (EDS) are two different genetical disorders both characterized, among other features, by muscular hypotonia. Postural control seems to be impaired in both conditions. The aim of the present study was to quantitatively compare postural control in adult PWS and EDS using stabilometric platform…

Parental Ratings of Children and Adolescents with Prader-Willi Syndrome on the Behavior Rating Inventory of Executive Function (BRIEF)

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Hutchison, Marnie; Pei, Jacqueline; Leung, Wing Sze Wence; Mackenzie, Michelle; Hicks, Melanie D.; Thurm, Audrey E.; Han, Joan C.; Haqq, Andrea M.

2015-01-01

We investigated executive functioning in 25 children and adolescents with Prader-Willi syndrome (PWS) on the Behavior Rating Inventory of Executive Function (BRIEF). Significant deficits emerged, with mean scores on all but two scales reaching levels of clinical significance (T score = 65). Older children tended to have higher scores than younger…

Growth Hormone Therapy in Adults with Prader-Willi Syndrome

Directory of Open Access Journals (Sweden)

Karen S. Vogt

2015-04-01

Full Text Available Prader-Willi syndrome (PWS is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to improvements in linear growth, the benefits of growth hormone therapy on body composition and motor function in children with PWS are well established. Evidence is now emerging on the benefits of growth hormone therapy in adults with PWS. This review summarizes the current literature on growth hormone status and the use of growth hormone therapy in adults with PWS. The benefits of growth hormone therapy on body composition, muscle strength, exercise capacity, certain measures of sleep-disordered breathing, metabolic parameters, quality of life, and cognition are covered in detail along with potential adverse effects and guidelines for initiating and monitoring therapy.

Genetic syndromes in the family : child characteristics and parenting stress in Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett syndrome

NARCIS (Netherlands)

Wulffaert, Josette

2010-01-01

Aim of the dissertation: To expand the knowledge on the behavioural phenotypes, level of parenting stress and the relationship between child characteristics and parenting stress in five genetic syndromes. The included syndromes are Angelman, CHARGE, Cornelia de Lange, Prader-Willi, and Rett

Willie Hobbs Moore (1934-1994): The First Female African American Physicist

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Mickens, Ronald

2011-03-01

We discuss the life and career of Willie Hobbs Moore, the first African American woman to receive a doctorate degree in physics. This achievement occurred in June 1972 at the University of Michigan, Ann Arbor, MI. Her dissertation, directed by the renowned spectroscopist Samuel Krimm, was on the subject of ``A Vibrational Analysis of Secondary Chlorides," and focused on a theoretical analysis of the secondary chlorides for polyvinal-chlorine polymers. From 1972--1977, she, Krimm, and collaborators published more than thirty papers on this and related research issues. In addition to an overview of her family background, her careers as a research physicist and scientist working in various industrial laboratories, we discuss the obstacles and successes she encountered at various stages of her life.

Cognitive and behavioural aspects of Prader-Willi syndrome.

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Rice, Lauren J; Einfeld, Stewart L

2015-03-01

To provide a review of the recent advances in the diagnosis and treatment of psychiatric disorders in Prader-Willi syndrome (PWS). Research in the last 12 months has provided a descriptive prognosis of psychosis in PWS and highlighted the possible genes associated with the increased risk of psychosis for those with maternal uniparental disomy (mUPD). Several studies investigating social and communication skills have shown people with PWS to have difficulty with core, receptive and expressive language skills, interpreting emotional valence in faces, playing with children of their own age, understanding personal space and a developmental delay in the theory of mind. These social and communication deficits are often more pronounced in those with mUPD. Two recent clinical trials of oxytocin provide mixed results and highlight the need for an improved understanding of the neurobiological characteristics of the PWS brain. A recent pilot study suggests N-acetylcysteine may be a viable treatment for skin picking. Recent advances have contributed to our understanding of the emotional and behavioural problems associated with PWS, and provided directions for further research.

Bone mineral density and effects of growth hormone treatment in prepubertal children with Prader-Willi syndrome: a randomized controlled trial.

NARCIS (Netherlands)

Lind van Wijngaarden, R.F. de; Festen, D.A.M.; Otten, B.J.; Mil, E.G. van; Rotteveel, J.J.; Odink, R.J.; Leeuwen, M. van; Haring, D.A.; Bocca, G.; Mieke Houdijk, E.C.; Hokken-Koelega, A.C.S.

2009-01-01

BACKGROUND: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment. OBJECTIVES: The aim of the study was to evaluate BMD in children with PWS and to study the effects

Bone Mineral Density and Effects of Growth Hormone Treatment in Prepubertal Children with Prader-Willi Syndrome : A Randomized Controlled Trial

NARCIS (Netherlands)

van Wijngaarden, Roderick F. A. de Lind; Festen, Dederieke A. M.; Otten, Barto J.; van Mil, Edgar G. A. H.; Rotteveel, Joost; Odink, Roelof J.; van Leeuwen, Mariette; Haring, Danny A. J. P.; Bocca, Gianni; Houdijk, E. C. A. Mieke; Hokken-Koelega, Anita C. S.

2009-01-01

Background: Bone mineral density (BMD) is unknown in children with Prader-Willi syndrome (PWS), but is decreased in adults with PWS. In patients with GH deficiency, BMD increases during GH treatment. Objectives: The aim of the study was to evaluate BMD in children with PWS and to study the effects

Relationship between the IQ of People with Prader-Willi Syndrome and that of Their Siblings: Evidence for Imprinted Gene Effects

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Whittington, J.; Holland, A.; Webb, T.

2009-01-01

Background: Genetic disorders occasionally provide the means to uncover potential mechanisms linking gene expression and physical or cognitive characteristics or behaviour. Prader-Willi syndrome (PWS) is one such genetic disorder in which differences between the two main genetic subtypes have been documented (e.g. higher verbal IQ in one vs.…

Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature.

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Bonnot, O; Cohen, D; Thuilleaux, D; Consoli, A; Cabal, S; Tauber, M

2016-01-01

Prader-Willi syndrome (PWS) is a rare genetic syndrome. The phenotype includes moderate to intellectual disability, dysmorphia, obesity, and behavioral disturbances (e.g., hetero and self-injurious behaviors, hyperphagia, psychosis). Psychotropic medications are widely prescribed in PWS for symptomatic control. We conducted a systematic review of published literature to examine psychotropic medications used in PWS. MEDLINE was searched to identify articles published between January 1967 and December 2014 using key words related to pharmacological treatments and PWS. Articles with original data were included based on a standardized four-step selection process. The identification of studies led to 241 records. All selected articles were evaluated for case descriptions (PWS and behavioral signs) and treatment (type, titration, efficiency, and side effects). Overall, 102 patients were included in these studies. Treatment involved risperidone (three reports, n = 11 patients), fluoxetine (five/n = 6), naltrexone (two/n = 2), topiramate (two/n = 16), fluvoxamine (one/n = 1), mazindol (one/n = 2), N-acetyl cysteine (one/n = 35), rimonabant (one/n = 15), and fenfluramine (one/n = 15). We identified promising treatment effects with topiramate for self-injury and impulsive/aggressive behaviors, risperidone for psychotic symptoms associated with uniparental disomy (UPD), and N-acetyl cysteine for skin picking. The pharmacological approach of behavioral impairment in PWS has been poorly investigated to date. Further randomized controlled studies are warranted. Behavioral disturbances in Prader-Willi syndrome including aggressive reactions, skin picking, and hyperphagia might be very difficult to manage. Antipsychotic drugs are widely prescribed, but weight gain and increased appetite are their major side effects. Topiramate might be efficient for self-injury and impulsive/aggressive behaviors, N-acetyl cysteine is apromising treatment for

Motor performance in Prader-Willi syndrome patients and its potential influence on caregiver’s quality of life

OpenAIRE

Valeria Jia-Yi Chiu; Li-Ping Tsai; Jang-Ting Wei; I-Shiang Tzeng; Hsin-Chi Wu

2017-01-01

Background Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by a variety of physical, cognitive, and behavioral impairments. PWS is a unique sarcopenia model characterized by an abnormal increase in body fat mass and a decrease in muscle mass that predisposes patients to reduced physical activity, functional limitations, and disability. These manifestations may require both symptomatic and supportive management, thus negatively influencing their lifelong fa...

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

NARCIS (Netherlands)

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

2012-01-01

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

Prader-Willi Syndrome: A Case Study and Parent Perspective.

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Glaspy, Erin; Foge, Julie

2015-08-01

Having a newborn diagnosed with a rare disorder is fraught with many challenges and opportunities for families and healthcare providers alike. This article presents one mother's journey through the daily blessings and challenges of having a child with a rare disorder. Storytelling and reflection interwoven with a case presentation. Prader-Willi syndrome can be a diagnosis that is missed in the immediate postpartum period. Careful assessment and evaluation of the infant is needed. Attention to detail will support an accurate and timely diagnosis. Those involved in the care of infants in the neonatal intensive care unit with special needs owing to a rare disorder must guide families through the difficult process of establishing a diagnosis and coping with the short- and long-term implications of that diagnosis. Research about the needs of families with children with rare diseases is sorely needed. Finding strategies to best support these families is an area of great need.

Cardiovascular and metabolic risk profile and acylation-stimulating protein levels in children with Prader-Willi syndrome and effects of growth hormone treatment

NARCIS (Netherlands)

R.F.A. de Lind van Wijngaarden (Roderick); K. Cianflone (Katherine); Y. Gao; R.W.J. Leunissen (Ralph); A.C.S. Hokken-Koelega (Anita)

2010-01-01

textabstractContext: Reports on the cardiovascular and metabolic risk profile in children with Prader-Willi syndrome (PWS) and the effects of GH treatment are scarce. Acylation-stimulating protein (ASP) stimulates glucose uptake and triglyceride storage in adipose tissue. Objectives: The aim was to

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

Science.gov (United States)

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

2015-06-01

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

Diagnosis and treatments of Prader-Willi syndrome: a review of current consensuses

Directory of Open Access Journals (Sweden)

2014-05-01

Full Text Available We analyzed international consensuses of experts and clinical recommendations on diagnosis and treatment of Prader-Willi syndrome (PWS: PWS consensus diagnostic criteria (1993; US PWS Association (PWSA-USA consensus statements on evaluating of breathing abnormalities (2007, osteoporosis (2008, growth hormone treatment in PWS (2000 and 2009; Endocrine society clinical practice guideline on Prevention and treatment of pediatric obesity (2008; the Second Expert Meeting of the Comprehensive Care of Patients with PWS Consensus published as Recommendations for the diagnosis and management of PWS (2008. Historical analysis and comparison of recommendations are presented in this review article. Absence of Russian clinical practice guidelines on PWS patients management makes necessary the detailed study of listed documents.

Long-term stand growth after helicopter and ground-based skidding in a tupelo-cypress wetland: 21-year results

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D.E. Evans; W.M. Aust; J.A. Peterson

2013-01-01

Three disturbance treatments were implemented on a tupelo-cypress forested wetland in southwestern Alabama on the Tensaw River in 1986: (1) clearcutting with helicopter log removal (HELI), (2) HELI followed by rubber-tired skidder traffic simulation (SKID), and (3) HELI followed by removal of all vegetation during the first two growing seasons via glyphosate herbicide...

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

NARCIS (Netherlands)

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

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

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

NARCIS (Netherlands)

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

2012-01-01

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

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

NARCIS (Netherlands)

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

2012-01-01

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

Treino parental para manejo comportamental de crianças com Síndrome de Prader-Willi: impacto sobre a saúde mental e práticas educativas do cuidador

OpenAIRE

Mesquita, Maria Luiza Guedes de; Suriano, Raquel; Carreiro, Luiz Renato Rodrigues; Teixeira, Maria Cristina Triguero Veloz

2016-01-01

RESUMO Objetivo: verificamos os indicadores de impacto na saúde mental de cuidadores de um programa de treinamento parental para manejo de crianças e adolescentes com Síndrome de Prader-Willi. Métodos: a amostra foi composta por 5 mães de crianças/adolescentes com Síndrome de Prader-Willi entre 6 a 18 anos. Os instrumentos de coleta de dados foram: a) Questionário para verificação de conhecimentos das mães sobre a síndrome, b) Inventário de Auto-avaliação para Adultos de 18 a 59 anos, c) In...

Effect of cessation of GH treatment on cognition during transition phase in Prader-Willi syndrome: Results of a 2-year crossover GH trial

NARCIS (Netherlands)

R.J. Kuppens (Renske); Mahabier, E.F.; N.E. Bakker (Nienke); E.P.C. Siemensma (Elbrich); S.H. Donze (Stephanie); A.C.S. Hokken-Koelega (Anita)

2016-01-01

textabstractBackground: Patients with Prader-Willi syndrome (PWS) have a cognitive impairment. Growth hormone (GH) treatment during childhood improves cognitive functioning, while cognition deteriorates in GH-untreated children with PWS. Cessation of GH treatment at attainment of adult height (AH)

Modeling the Circle of Willis Using Electrical Analogy Method under both Normal and Pathological Circumstances

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Abdi, Mohsen; Karimi, Alireza; Navidbakhsh, Mahdi; Rahmati, Mohammadali; Hassani, Kamran; Razmkon, Ali

2013-01-01

Background and objective: The circle of Willis (COW) supports adequate blood supply to the brain. The cardiovascular system, in the current study, is modeled using an equivalent electronic system focusing on the COW. Methods: In our previous study we used 42 compartments to model whole cardiovascular system. In the current study, nevertheless, we extended our model by using 63 compartments to model whole CS. Each cardiovascular artery is modeled using electrical elements, including resistor, capacitor, and inductor. The MATLAB Simulink software is used to obtain the left and right ventricles pressure as well as pressure distribution at efferent arteries of the circle of Willis. Firstly, the normal operation of the system is shown and then the stenosis of cerebral arteries is induced in the circuit and, consequently, the effects are studied. Results: In the normal condition, the difference between pressure distribution of right and left efferent arteries (left and right ACA–A2, left and right MCA, left and right PCA–P2) is calculated to indicate the effect of anatomical difference between left and right sides of supplying arteries of the COW. In stenosis cases, the effect of internal carotid artery occlusion on efferent arteries pressure is investigated. The modeling results are verified by comparing to the clinical observation reported in the literature. Conclusion: We believe the presented model is a useful tool for representing the normal operation of the cardiovascular system and study of the pathologies. PMID:25505747

The European Prader-Willi Syndrome Clinical Research Database: An Aid in the Investigation of a Rare Genetically Determined Neurodevelopmental Disorder

Science.gov (United States)

Holland, A.; Whittington, J.; Cohen, O.; Curfs, L.; Delahaye, F.; Dudley, O.; Horsthemke, B.; Lindgren, A. -C.; Nourissier, C.; Sharma, N.; Vogels, A.

2009-01-01

Background: Prader-Willi Syndrome (PWS) is a rare genetically determined neurodevelopmental disorder with a complex phenotype that changes with age. The rarity of the syndrome and the need to control for different variables such as genetic sub-type, age and gender limits clinical studies of sufficient size in any one country. A clinical research…

Mechanisms of obesity in Prader-Willi syndrome.

Science.gov (United States)

Khan, M J; Gerasimidis, K; Edwards, C A; Shaikh, M G

2018-01-01

Obesity is the most common cause of metabolic complications and poor quality of life in Prader-Willi syndrome (PWS). Hyperphagia and obesity develop after an initial phase of poor feeding and failure to thrive. Several mechanisms for the aetiology of obesity in PWS are proposed, which include disruption in hypothalamic pathways of satiety control resulting in hyperphagia, aberration in hormones regulating food intake, reduced energy expenditure because of hypotonia and altered behaviour with features of autism spectrum disorder. Profound muscular hypotonia prevents PWS patients from becoming physically active, causing reduced muscle movements and hence reduced energy expenditure. In a quest for the aetiology of obesity, recent evidence has focused on several appetite-regulating hormones, growth hormone, thyroid hormones and plasma adipocytokines. However, despite advancement in understanding of the genetic basis of PWS, there are contradictory data on the role of satiety hormones in hyperphagia and data regarding dietary intake are limited. Mechanistic studies on the aetiology of obesity and its relationship with disease pathogenesis in PWS are required. . In this review, we focused on the available evidence regarding mechanisms of obesity and potential new areas that could be explored to help unravel obesity pathogenesis in PWS. © 2016 World Obesity Federation.

Stress, Locus of Control, and Family Cohesion and Adaptability in Parents of Children with Down, Williams, Fragile X, and Prader-Willi Syndromes

Science.gov (United States)

Lanfranchi, Silvia; Vianello, Renzo

2012-01-01

The present study analyzes differences in parental stress in families of children with Down, Williams, Fragile X, and Prader-Willi syndromes, exploring factors that influence parental stress, such as child's characteristics, parental locus of control, and family cohesion and adaptability. Differences between mothers and fathers are also…

Scatter Plot Analysis of Excessive Daytime Sleepiness and Severe Disruptive Behavior in Adults with Prader-Willi Syndrome: A Pilot Study

Science.gov (United States)

Maas, Anneke P. H. M.; Didden, Robert; Bouts, Lex; Smits, Marcel G.; Curfs, Leopold M. G.

2009-01-01

Individuals with Prader-Willi syndrome (PWS) are at risk for excessive daytime sleepiness (EDS) and disruptive behavior. This pilot study explores temporal characteristics of EDS and severe disruptive behavior across time of day and day of week in seven individuals with PWS (aged between 33 and 49 years) of whom five were matched to controls.…

Le sens de l’écart : la narration déconstruite dans les vidéos de Willie Doherty

Directory of Open Access Journals (Sweden)

Valérie Morisson

2011-08-01

Full Text Available Dans les œuvres vidéographiques de l’artiste nord-irlandais Willie Doherty, les éléments narratifs entretiennent une relation complexe avec les images filmiques. Témoin de la guerre civile, récepteur méfiant des images du conflit, Doherty n’a de cesse de rappeler que la mémoire individuelle du traumatisme est erratique et le statut de victime problématique. La déconstruction du récit, l’instabilité de la focalisation, ainsi que l’écart, voire l’incompatibilité, entre l’image et le texte qui l’accompagne aboutissent à une réflexion sur les dissensions historiques. La voix off devient alors un facteur d’incertitude.In his video works, all tightly focused on the Northern-Irish conflict, Willie Doherty probes the perpetrator-victim dyad and denounces the truncated visual representation of the conflict by deconstructing the relation between image and sound. The texts uttered by the voice-over raise political issues relevant to post-conflict Ireland, whether it be victimhood, national trauma or the construction of collective memory. Multiple open-ended interwoven narratives accompany images without closing their interpretation.

Near demise of a child with Prader-Willi syndrome during elective orchidopexy.

Science.gov (United States)

Mantadakis, Elpis; Spanaki, Anna-Maria; Geromarkaki, Elsa; Vassilaki, Efrosini; Briassoulis, George

2006-07-01

The case of a morbidly obese 3.5-year-old boy, with Prader-Willi syndrome (PWS), who experienced a life-threatening episode of pulmonary edema soon after induction of general anesthesia with sevoflurane and intubation for orchidopexy is presented. The patient who had history of sleep apnea and who had an uneventful laparoscopy under general anesthesia 6 months previously was supported with mechanical ventilation with positive end expiratory pressure but developed hyperthermia, pneumonia, sepsis, and Acute Respiratory Distress Syndrome in the intensive care unit. He recovered fully 11 days after surgery. The possible contributing factors for the development of pulmonary edema are discussed. Arrangements for monitoring in an intensive care setting after surgery are highly recommended for patients with PWS.

Hypothalamic growth hormone-releasing hormone (GHRH) cell number is increased in human illness, but is not reduced in Prader-Willi syndrome or obesity

NARCIS (Netherlands)

Goldstone, Anthony P.; Unmehopa, Unga A.; Swaab, Dick F.

2003-01-01

Acute illness leads to increased GH, but reduced IGF-I secretion, while both are reduced in chronic illness. Prader-Willi syndrome (PWS) is a genetic obesity syndrome, with GH deficiency a feature independent of obesity. Reduced GH secretion may result from decreased hypothalamic release of

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome.

Science.gov (United States)

Desch, Laurent; Marle, Nathalie; Mosca-Boidron, Anne-Laure; Faivre, Laurence; Eliade, Marie; Payet, Muriel; Ragon, Clemence; Thevenon, Julien; Aral, Bernard; Ragot, Sylviane; Ardalan, Azarnouche; Dhouibi, Nabila; Bensignor, Candace; Thauvin-Robinet, Christel; El Chehadeh, Salima; Callier, Patrick

2015-01-01

Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS). We report a 14-year-old boy with a complex small supernumerary marker chromosome (sSMC) associated with PWLS. The propositus presents clinical features commonly found in patients with PWLS, including growth hormone deficit. Banding karyotype analysis and fluorescence in situ hybridization (FISH) revealed a marker derived from chromosome 6 and a neocentromere as suspected, but array-CGH enabled us to characterize this marker as a der(10)t(6;10)(6qter → 6q23.3::10p11.1 → 10p11.21)dn. As far as we know, this is the first diagnosed case of PWLS associated with a complex sSMC, involving a 30.9 Mb gain in the 6q16.3q23.3 region and a 3.5 Mb gain in the 10p11.21p11.1 region. Several genes have been mapped to the 6q region including the TCBA1 gene, which is associated with developmental delay and recurrent infections, the ENPP1 gene, associated with insulin resistance and susceptibility to obesity and the BMIQ3 gene, associated with body mass index (BMI). No OMIM gene was found in the smallest 10p11.21p11.1 region. We suggest that the duplicated chromosome segment 6q16.3q23.3 may be responsible for the phenotype of our case and may also be a candidate locus of PWLS.

First Case Report of Prader–Willi-Like Syndrome in Colombia

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Estephania Candelo

2018-03-01

Full Text Available Background: Prader–Willi-like syndrome (PWLS is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11–q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome.Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1–q21.Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

First Case Report of Prader-Willi-Like Syndrome in Colombia.

Science.gov (United States)

Candelo, Estephania; Feinstein, Max M; Ramirez-Montaño, Diana; Gomez, Juan F; Pachajoa, Harry

2018-01-01

Background: Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. Case presentation: In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. Conclusions: This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.

Solar wind and geomagnetism: toward a standard classification of geomagnetic activity from 1868 to 2009

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J. L. Zerbo

2012-02-01

Full Text Available We examined solar activity with a large series of geomagnetic data from 1868 to 2009. We have revisited the geomagnetic activity classification scheme of Legrand and Simon (1989 and improve their scheme by lowering the minimum Aa index value for shock and recurrent activity from 40 to 20 nT. This improved scheme allows us to clearly classify about 80% of the geomagnetic activity in this time period instead of only 60% for the previous Legrand and Simon classification.

Identification of Prader-Willi Syndrome mosaicism by fluorescent in situ hybridization

Energy Technology Data Exchange (ETDEWEB)

Mowery-Rushton, P.A.; Surti, U. [Magee Womens Hospital, Pittsburgh, PA (United States); Hanchett, J.M. [Rehabilitation Institute, Pittsburgh, PA (United States)

1994-09-01

Prader-Willi Syndrome (PWS) is a microdeletion syndrome involving an interstitial deletion of region q11-q13 on the paternal chromosome 15. We report 2 cases of PWS that were analyzed using FISH and were found to be mosaic for a normal cell line and a deleted cell line. Case 1 was diagnosed as an atypical PWS who was cytogenetically normal. She is a 38 y.o. white female displaying some but not all of the features of PWS. Case 2 is a 23 y.o. white male with a classical deletion of chromosome 15q11-q13. He displays very typical features of PWS. He was also noted to be albino. FISH analysis was performed on PHA stimulated lymphocytes. We examined four loci: D15S11, SNRPN, D15S10, and GABRB3. The number of cells examined for each locus ranged from 46 to 75. Case 1 was deleted at 3 of the 4 loci (D15S11, SNRPN and GABRB3) in 30% of her cells. The D15S10 locus was not deleted. This may account for the atypical features displayed by this patient. It also suggests that this chromosome is rearranged resulting in the retention of the interstitial locus. The exact nature of the rearrangement needs to be determined. Case 2 was deleted at all four loci in 60% of the cells analyzed. This result was unexpected because his deletion was identified cytogenetically, but mosaicism was not detected. These are the first reported cases of mosaic PWS diagnosed using FISH. The use of cytogenetics alone requires high resolution banding to accurately identify the deletion. This makes the detection of small deletions in every cell difficult and the determination of mosaicism almost impossible. Our results suggest that mosaicism may be occurring more frequently than previously thought and may account for some of the atypical cases. Studies are in progress to determine the effect of mosaicism on methylation at genes located within this region which are imprinted and are thought to be involved in the etiology of Prader-Willi Syndroms.

Síndrome de Prader Willi: Presentación clínica de dos pacientes y revisión de la literatura Prader-Willi syndrome: Clinical report of two patients and literature review

Directory of Open Access Journals (Sweden)

Nuris Rodríguez Vargas

2006-03-01

Full Text Available El síndrome de Prader Willi es una afección de niños y jóvenes caracterizada por obesidad, baja talla, oligofrenia, llanto débil o gemido, hipoplasia de los escrotos, testículos no descendidos, entre otros. En la pubertad se asocia a un desarrollo demorado e incompleto y a la aparición de diabetes mellitus y elevada excreción de gonadotropina. Presentamos en este trabajo a dos pacientes que cumplen estos criterios clínicos y que fueron estudiados en el Policlínico Docente «19 de Abril». Se realiza una breve revisión bibliográfica del síndrome.

Low prevalence of collateral cerebral circulation in the circle of Willis in patients with severe carotid artery stenosis and recent ischemic stroke.

Science.gov (United States)

Badacz, Rafał; Przewłocki, Tadeusz; Karch, Izabela; Pieniążek, Piotr; Rosławiecka, Agnieszka; Mleczko, Szymon; Brzychczy, Andrzej; Trystuła, Mariusz; Żmudka, Krzysztof; Kabłak-Ziembicka, Anna

2015-01-01

The circle of Willis is thought to play a key role in development of collateral flow in patients with internal carotid artery stenosis (ICAS). To assess flow in the circle of Willis in patients with recent ischemic stroke (IS). The study included 371 patients, 102 symptomatic with severe ICAS and recent IS (within the last 3 months) (group I) and 269 asymptomatic with severe ICAS (group II). Flow in the middle (MCA), anterior (ACA) and posterior (PCA) cerebral arteries and pattern of the cross-flow through anterior (ACoA) and posterior (PCoA) communicating arteries were assessed with transcranial color-coded Doppler ultrasonography (TCCD). The ACoA or PCoA was less prevalent in group I than in group II (54% vs. 78%, p PCoA and higher PSV in the MCA and ACA were associated with significant risk reduction of IS (RR = 0.28 (95% CI = 0.16-0.49, p PCoA seem to play a key role in the evaluation of IS risk in subjects with severe ICAS.

Grupos geracionais e o comprometimento organizacional : um estudo em uma empresa metalúrgica de Caxias do Sul

OpenAIRE

Batista, Francisco Honório Araújo

2011-01-01

A proposta deste trabalho é de analisar o comprometimento organizacional dos funcionários de uma empresa metalúrgica de Caxias do sul. Esta empresa em análise é a Cemar Legrand empresa pertencente ao Grupo Legrand (Grupo Multinacional Francês). Foi utilizado para a análise um instrumento de pesquisa com reconhecimento pela comunidade científica chamado de modelo dos três componentes de Allen e Meyer (1997) , modelo que caracteriza o comprometimento organizacional em suas dimensões afetivo, i...

Study of collective flows of protons and π{sup -}-mesons in p+C, Ta and He+Li, C collisions at momenta of 4.2, 4.5 and 10 AGeV/c

Energy Technology Data Exchange (ETDEWEB)

Chkhaidze, L.; Djobava, T.; Kharkhelauri, L. [High Energy Physics Institute of Tbilisi State University, Tbilisi (Georgia); Chlachidze, G. [Fermi National Accelerator Laboratory, Batavia, IL (United States); Galoyan, A. [Joint Institute for Nuclear Research, Veksler and Baldin Laboratory of High Energy Physics, Dubna (Russian Federation); Togoo, R. [Institute of Physics and Technology of the Mongolian Academy of Sciences, Ulan Bator (Mongolia); Uzhinsky, V. [Joint Institute for Nuclear Research, Laboratory of Information Technologies, Dubna (Russian Federation)

2016-11-15

Collective flows of protons and π{sup -}-mesons are studied at the momenta of 4.2, 4.5 and 10 AGeV/c for p+C, Ta and He+Li, C interactions. The data were obtained from the streamer chamber (SKM-200-GIBS) and from the Propane Bubble Chamber (PBC-500) systems utilized at JINR. A method of Danielewicz and Odyniec has been employed in determining a directed transverse flow of particles. The values of the transverse flow parameter and the strength of the anisotropic emission were defined for each interacting nuclear pair. It is found that the directed flows of protons and pions decrease with increasing the energy and the mass numbers of colliding nucleus pairs. The π{sup -}-meson and proton flows exhibit opposite directions in all studied interactions, and the flows of protons are directed in the reaction plane. The Ultra-relativistic Quantum Molecular Dynamical Model (UrQMD) coupled with the Statistical Multi-fragmentation Model (SMM), satisfactorily describes the obtained experimental results. (orig.)

Usefulness of 2D PC MRA of the circle of willis in the evaluation of acute cerebral infarction

Energy Technology Data Exchange (ETDEWEB)

Kwon, Oh Han; Lee, Jae Hee; Kim, Ki Ju; Lee, Sung Yong [Our Lady of Mercy Hospital, Seoul (Korea, Republic of); Choi, Kyu Ho [The Catholic Univ. of Korea, Seoul (Korea, Republic of)

1999-11-01

To evaluate the usefulness of axial 2-D PC MRA of the circle of Willis in the evaluation of acute cerebral infarction We evaluated 42 patients with acute cerebral infarction who had undergone T2-weighted and diffusion weighted MR imaging (T2WI, DWI) and 2-D PC MRA of the circle of Willis within 72 hours of the onset of symptoms. In conjunction with high-signal lesions on DWI, the findings of 2-D PC MRA were classified as normal, stenotic, or indicative of arterial occlusion;negative 2-D PC MRA was not considered useful. In addition, the signal intensity of T2WI and DWI was compared. (The findings of 2-D PC MRA showed that 15 cases(35.7%) were normal, 13(31%) were stenotic, and that in 14 (33.3%), occlusion was present). Thus, 2-D PC MRA detected vascular abnormality in 27 cases(64.3%). On T2WI, six cases (14.3%) showed no signal change and 36(85.7%) showed high signal change. In six cases without signal change, MR images were obtained within 12 hours of ictus;in one of these patients MRA findings were normal, one had stenosis, and in four, occlusion was noted. 2-D PC MRA is a useful modality for the detection of vascular abnormality in patients with acute cerebral infarct.

[Care continuity for patients with Prader-Willi syndrome during transition from childhood to adulthood].

Science.gov (United States)

Saitoh, Shinji

2010-01-01

Prader-Willi syndrome(PWS) is a complex multisystem genetic disorder, of which characteristic phenotypes include neonatal hypotonia, hyperphagia resulting in obesity, mental retardation, hypogonadism, and behavioral and psychiatric problems. The diagnosis can be obtained as early as during neonatal period thanks to development of genetic testing. Clinical features of PWS will change depending on age, although core phenotypes of hyperphagia, obesity and psychiatric issues stay for lifetime. Therefore, integrated multidisciplinary approach starting from neonatal period is mandatory to ensure optimal management to improve lifelong quality of life. For successful transition from childhood to adulthood, multidisciplinary team need to share clinical information, and should keep the same policy about food, environment and psychiatric issues.

Perfil comportamental e cognitivo de crianças com a síndrome de Prader Willi

OpenAIRE

Maria Luiza Guedes de Mesquita

2008-01-01

A Síndrome de Prader Willi (SPW) é uma doença genética de origem paterna causada pela perda de expressão de genes no cromossomo 15. Alguns sintomas patognomônicos da doença são a hiperfagia e a obesidade que, na maioria dos casos, ocorre antes dos seis anos e compromete severamente a qualidade vida desses pacientes. O presente estudo se concentrou na área comportamental e teve como objetivos: - identificar a freqüência diária de comportamentos alimentares e ingestão calórica de crianças com S...

Dicty_cDB: Contig-U12422-1 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available 3 ( EL513628 ) CHUY396.b1_G03.ab1 CHU(XYZ) puzzle sunflower Heli... 42 1e-06 4 (... EL513966 ) CHUY737.b1_B18.ab1 CHU(XYZ) puzzle sunflower Heli... 42 1e-06 4 ( DH772441 ) Rattus norvegicus D...03, 5' ... 48 1e-05 3 ( EL513533 ) CHUX637.b1_I16.ab1 CHU(XYZ) puzzle sunflower Heli... 42 1e-05 3 ( AC10558

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Science.gov (United States)

Zeesman, Susan; McCready, Elizabeth; Sadikovic, Bekim; Nowaczyk, Małgorzata Jm

2015-01-01

Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome. © 2014 Wiley Periodicals, Inc.

Tarvo Hanno Varres, Mari-Leen Kiipli / Merilin Talumaa, Hanno Soans, Tatjana Kozlova-Johannes

Index Scriptorium Estoniae

Talumaa, Merilin, 1986-

2015-01-01

Vaatluse alla on võetud Tarvo Hanno Varrese heli- ja videoinstallatsioon "Lindistav põrand" (2015) ja heli- ja videoteos "Betweenland" (2014) ning Mari-Leen Kiipli fotoseeria "The school of dreams" (2012-2015)

An 18-year-old patient with Prader-Willi syndrome: a case report on dental management under sedation and general anesthesia

OpenAIRE

Song, Ki Un; Nam, Ok Hyung; Kim, Mi Sun; Choi, Sung Chul; Lee, Hyo-Seol

2015-01-01

Prader-Willi syndrome (PWS) is a rare genetic disorder reported rarely in dentistry. Dental practitioners should know the features of PWS because affected patients have a variety of dental symptoms. The current report describes a case of PWS. An 18-year-old male patient presented with traumatic injuries. Initial emergency treatments were performed under sedation, and further treatments were conducted under general anesthesia. After adequate healing, periodic follow-up and dietary management a...

Application of willis covered stent in the treatment of aneurysms located in the cisternal segment of the internal carotid artery: a pilot comparative study with long-term follow-up results

International Nuclear Information System (INIS)

Zhu Yueqi; Li Minghua; Fang Chun; Wang Wu; Zhang Peilei; Cheng Yingsheng; Tan Huaqiao; Wang Jianbo

2010-01-01

Objective: Complicated aneurysms located in the cisternal segment of the internal carotid artery(ICA-CSA) present unique therapeutic difficulties. This study is to discuss the feasibility of the Willis stent-graft in treating complicated ICA-CSA by comparing its effect with that of coiling therapy. Methods: Willis covered stents were employed in 19 complicated ICA-CSAs (group A), while coils were used in 17 complicated ICA-CSAs (group B). Follow-up angiography was performed to investigate aneurysm recurrence, endoleak and parent artery (PA) stenosis. Kaplan-Meier curves were constructed to compare the recurrence-free and PA stenosis-free rate in both groups. Results: Total exclusion was immediately achieved in 13 ICA-CSAs and minor endoleaks presented in 5 cases in group A. Total or near-total occlusion was achieved in 7 ICA-CSAs, subtotal occlusion in 8 and partial occlusion in 2 cases in group B after coiling. Acute thrombosis occurred in 1 patient in either group and re-hemorrhage happened in 1 patient after coiling. Follow-up angiography in group A revealed that 16 ICA-CSAs were completely isolated, with two parent arteries showing mild in-stent stenosis. Eighteen months after the procedure, Kaplan-Meier analysis showed that the recurrence-free rate was 93.3% and 50%, while the stenosis-free rate of parent artery was 87.5% and 100% in group A and in Group B, respectively. In group A and group Bthe clinical neurological symptoms were fully recovered in 9 and 9, obviously improved in 3 and 5, unchanged in 2 and 2, and aggravated in one and 0 patients, respectively. Conclusion: The implantation of Willis stent-graft is a feasible endovascular therapy for complicated ICA-CSAs. When the parent artery is very tortuous or when the risk that a main collateral branch may be wrongly covered and occluded is present, the implantation of Willis covered stent can not be taken as the treatment of first choice. (authors)

Special Care Dentistry in a Patient with Prader–Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia

OpenAIRE

Caio Vinícius Gonçalves Roman-Torres; Sérgio Takashi Kussaba; Yasmin Comoti Vita Bantim; Roberta de Barros Antunes Almeida de Oliveira

2017-01-01

Prader–Willi syndrome described in 1956 has a genetic origin, affecting both genders, varying in presence and intensity from individual to individual. A precocious diagnosis, before the manifestation of symptoms, has brought some improvement in the quality of life of the carriers in the last years. The objective of this case report was to describe the treatment realized in a 3-year-old boy who presented grade II obesity, difficulty of locomotion, hypotonia, and history of cardiopathy. A denta...

Prader Willi Syndrome: A Family's Experience

Directory of Open Access Journals (Sweden)

Emma Walker

2006-01-01

Full Text Available Genetic research has offered, and continues to offer, a medical explanation of chromosomal disorders such as Down Syndrome and Asberger Syndrome and more recently the rare chromosomal disorder Prader Willi Syndrome. This research gives a pathogenic explanation of disorders which includes historical background, genetic defects and clinical features. This study set out to offer an insight into the effects of PWS on the child and his/her family. It also aimed to highlight what support systems are in place in the Co. Louth area of Ireland for individuals with PWS. Unfortunately, PWS is not curable at this time. Between 1995-2003 there were 39 diagnosed cases of PWS in Ireland, an average of 4.3 per year. On average there are four infants or children diagnosed in Ireland with PWS per year (Turner, 2004, National Centre for Medical Genetics. This study is an exploratory and descriptive case study. This case study drew on multiple sources of evidence to construct a valid and unique illustration of PWS. The primary source of data was derived from in-depth interviews with the parents of a 3-year-old girl who has PWS. She was diagnosed during the third week of life. The evidence of this study suggests that non-specialist medical staff are not generally familiar with PWS. Training in relation to diagnostic criteria for chromosomal disorders would be extremely beneficial to them and to familes that are affected by the syndrome. This study highlights the need for parents to be their own child's advocate in obtaining desired support services for their area. Support services in the North East region have been greatly increased due to the setting up of the North Eastern Health Board (now known as Health Service Executive, North East Region Early Intervention Services (EIS in 2000.

Bi-layer plate-type acoustic metamaterials with Willis coupling

Science.gov (United States)

Ma, Fuyin; Huang, Meng; Xu, Yicai; Wu, Jiu Hui

2018-01-01

Dynamic effective negative parameters are principal to the representation of the physical properties of metamaterials. In this paper, a bi-layer plate-type unit was proposed with both a negative mass density and a negative bulk modulus; moreover, through analysis of these bi-layer structures, some important problems about acoustic metamaterials were studied. First, dynamic effective mass densities and the bulk modulus of the bi-layer plate-type acoustic structure were clarified through both the direct and the retrieval methods, and, in addition, the intrinsic relationship between the sound transmission (absorption) characteristics and the effective parameters was analyzed. Furthermore, the properties of dynamic effective parameters for an asymmetric bi-layer acoustic structure were further considered through an analysis of experimental data, and the modified effective parameters were then obtained through consideration of the Willis coupling in the asymmetric passive system. In addition, by taking both the clamped and the periodic boundary conditions into consideration in the bi-layer plate-type acoustic system, new perspectives were presented for study on the effective parameters and sound insulation properties in the range below the cut-off frequency. The special acoustic properties established by these effective parameters could enrich our knowledge and provide guidance for the design and installation of acoustic metamaterial structures in future sound engineering practice.

Kogu elu tööliste keskel / Aarne Ruben

Index Scriptorium Estoniae

Ruben, Aarne, 1971-

2003-01-01

Portreefilm filmimees Semjon Shkolnikovist "Igaviku seisukohalt" : stsenarist Igor Ruus : režissöörid Igor Ruus ja Heli Speek : produtsent Igor Ruus : Estonia Film 2002. Lisatud andmed Igor Ruusi, Heli Speegi ja Aarne Rubeni kohta, lk. 114

The Way It Was Montrealis / Ralf Kall ; fotod: Tõnu Sultson

Index Scriptorium Estoniae

Kall, Ralf

2009-01-01

dr. prof. Heli-Kristy Kultas-Ilinsky ja dr. prof. Igor Ilinsky külaskäigust Montreali Eesti Pensionäride Klubisse ja mälestusteose Kultas-Ilinsky, Heli-Kristy. The Way It Was: Trafford Publishing, 2008 esitlusest

Medication Trials for Hyperphagia and Food-Related Behaviors in Prader–Willi Syndrome

Directory of Open Access Journals (Sweden)

Jennifer L. Miller

2015-06-01

Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is coupled with reduced energy expenditure and decreased caloric requirements, thus, individuals with PWS will become severely obese unless their food intake is strictly controlled. The mechanisms underlying hyperphagia in PWS remain incompletely understood, and to date no drugs have proven effective in controlling appetite. However, clinical trials have started for several medications, which may provide therapeutic options for those with PWS. These medication trials may also provide insight into potential treatments for obesity in the general population. Ideally, these treatments will help alleviate the complex metabolic issues that are part of this syndrome.

Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome

Science.gov (United States)

Manning, Katherine E.; Holland, Anthony J.

2015-01-01

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a behavioural phenotype encompassing hyperphagia, intellectual disability, social and behavioural difficulties, and propensity to psychiatric illness. Research has tended to focus on the cognitive and behavioural investigation of these features, and, with the exception of eating behaviour, the neural physiology is currently less well understood. A systematic review was undertaken to explore findings relating to neural structure and function in PWS, using search terms designed to encompass all published articles concerning both in vivo and post-mortem studies of neural structure and function in PWS. This supported the general paucity of research in this area, with many articles reporting case studies and qualitative descriptions or focusing solely on the overeating behaviour, although a number of systematic investigations were also identified. Research to date implicates a combination of subcortical and higher order structures in PWS, including those involved in processing reward, motivation, affect and higher order cognitive functions, with both anatomical and functional investigations indicating abnormalities. It appears likely that PWS involves aberrant activity across distributed neural networks. The characterisation of neural structure and function warrants both replication and further systematic study. PMID:28943631

Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome

Directory of Open Access Journals (Sweden)

Katherine E. Manning

2015-12-01

Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder of genomic imprinting, presenting with a behavioural phenotype encompassing hyperphagia, intellectual disability, social and behavioural difficulties, and propensity to psychiatric illness. Research has tended to focus on the cognitive and behavioural investigation of these features, and, with the exception of eating behaviour, the neural physiology is currently less well understood. A systematic review was undertaken to explore findings relating to neural structure and function in PWS, using search terms designed to encompass all published articles concerning both in vivo and post-mortem studies of neural structure and function in PWS. This supported the general paucity of research in this area, with many articles reporting case studies and qualitative descriptions or focusing solely on the overeating behaviour, although a number of systematic investigations were also identified. Research to date implicates a combination of subcortical and higher order structures in PWS, including those involved in processing reward, motivation, affect and higher order cognitive functions, with both anatomical and functional investigations indicating abnormalities. It appears likely that PWS involves aberrant activity across distributed neural networks. The characterisation of neural structure and function warrants both replication and further systematic study.

Relationship between white matter hyperintensities volume and the circle of Willis configurations in patients with carotid artery pathology.

Science.gov (United States)

Saba, Luca; Sanfilippo, Roberto; Porcu, Michele; Lucatelli, Pierleone; Montisci, Roberto; Zaccagna, Fulvio; Suri, Jasjit S; Anzidei, Michele; Wintermark, Max

2017-04-01

We aimed to assess if there is a difference of distribution and volume of white matter hyperintensities (WMH) in the brain according to the Circle of Willis (CoW) configuration in patients with carotid artery pathology. One-hundred consecutive patients (79 males, 21 females; mean age 70 years; age range 46-84 years) that underwent brain MRI before carotid endarterectomy (CEA) were included. FLAIR-WMH lesion volume was performed using a semi-automated segmentation technique and the status of the circle of Willis was assessed by two neuroradiologists in consensus. We found a prevalence of 55% of variants in the CoW configuration; 22 cases had one variants (40%); 25 cases had two variants (45.45%) and 8 cases showed 3 variants (14.55%). The configuration that was associated with the biggest WMH volume and number of lesions was the A1+PcoA+PcoA. The PcoA variants were the most prevalent and there was no statistically significant difference in number of lesions and WMH for each vascular territory assessed and the same results were found for AcoA and A1 variants. Results of our study suggest that the more common CoW variants are not associated with the presence of an increased WMH or number of lesions whereas uncommon configurations, in particular when 2 or more segment are missing increase the WMH volume and number of lesions. The WHM volume of the MCA territory seems to be more affected by the CoW configuration. Copyright © 2017 Elsevier B.V. All rights reserved.

Relationship between white matter hyperintensities volume and the circle of Willis configurations in patients with carotid artery pathology

International Nuclear Information System (INIS)

Saba, Luca; Sanfilippo, Roberto; Porcu, Michele; Lucatelli, Pierleone; Montisci, Roberto; Zaccagna, Fulvio; Suri, Jasjit S.; Anzidei, Michele; Wintermark, Max

2017-01-01

Purpose: We aimed to assess if there is a difference of distribution and volume of white matter hyperintensities (WMH) in the brain according to the Circle of Willis (CoW) configuration in patients with carotid artery pathology. Material and methods: One-hundred consecutive patients (79 males, 21 females; mean age 70 years; age range 46–84 years) that underwent brain MRI before carotid endarterectomy (CEA) were included. FLAIR-WMH lesion volume was performed using a semi-automated segmentation technique and the status of the circle of Willis was assessed by two neuroradiologists in consensus. Results: We found a prevalence of 55% of variants in the CoW configuration; 22 cases had one variants (40%); 25 cases had two variants (45.45%) and 8 cases showed 3 variants (14.55%). The configuration that was associated with the biggest WMH volume and number of lesions was the A1 + PcoA + PcoA. The PcoA variants were the most prevalent and there was no statistically significant difference in number of lesions and WMH for each vascular territory assessed and the same results were found for AcoA and A1 variants. Conclusion: Results of our study suggest that the more common CoW variants are not associated with the presence of an increased WMH or number of lesions whereas uncommon configurations, in particular when 2 or more segment are missing increase the WMH volume and number of lesions. The WHM volume of the MCA territory seems to be more affected by the CoW configuration.

Relationship between white matter hyperintensities volume and the circle of Willis configurations in patients with carotid artery pathology

Energy Technology Data Exchange (ETDEWEB)

Saba, Luca, E-mail: lucasaba@tiscali.it [Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), di Cagliari – Polo di Monserrato, s.s. 554 Monserrato, Cagliari 09045 (Italy); Sanfilippo, Roberto [Department of Vascular Surgery, Azienda Ospedaliero Universitaria (A.O.U.), di Cagliari – Polo di Monserrato, s.s. 554 Monserrato, Cagliari 09045 (Italy); Porcu, Michele [Department of Radiology, Azienda Ospedaliero Universitaria (A.O.U.), di Cagliari – Polo di Monserrato, s.s. 554 Monserrato, Cagliari 09045 (Italy); Lucatelli, Pierleone [Department of Radiology, University la Sapienza, Rome (Italy); Montisci, Roberto [Department of Vascular Surgery, Azienda Ospedaliero Universitaria (A.O.U.), di Cagliari – Polo di Monserrato, s.s. 554 Monserrato, Cagliari 09045 (Italy); Zaccagna, Fulvio [Department of Radiology, University la Sapienza, Rome (Italy); Suri, Jasjit S. [Monitoring and Diagnostic Division, AtheroPoint, Roseville, CA (United States); Point-of-Care Devices, Global Biomedical Technologies, Inc., Roseville, CA (United States); Department of Electrical Engineering, University of Idaho (Affl.), ID (United States); Anzidei, Michele [Department of Radiology, University la Sapienza, Rome (Italy); Wintermark, Max [Department of Radiology, Stanford University (United States)

2017-04-15

Purpose: We aimed to assess if there is a difference of distribution and volume of white matter hyperintensities (WMH) in the brain according to the Circle of Willis (CoW) configuration in patients with carotid artery pathology. Material and methods: One-hundred consecutive patients (79 males, 21 females; mean age 70 years; age range 46–84 years) that underwent brain MRI before carotid endarterectomy (CEA) were included. FLAIR-WMH lesion volume was performed using a semi-automated segmentation technique and the status of the circle of Willis was assessed by two neuroradiologists in consensus. Results: We found a prevalence of 55% of variants in the CoW configuration; 22 cases had one variants (40%); 25 cases had two variants (45.45%) and 8 cases showed 3 variants (14.55%). The configuration that was associated with the biggest WMH volume and number of lesions was the A1 + PcoA + PcoA. The PcoA variants were the most prevalent and there was no statistically significant difference in number of lesions and WMH for each vascular territory assessed and the same results were found for AcoA and A1 variants. Conclusion: Results of our study suggest that the more common CoW variants are not associated with the presence of an increased WMH or number of lesions whereas uncommon configurations, in particular when 2 or more segment are missing increase the WMH volume and number of lesions. The WHM volume of the MCA territory seems to be more affected by the CoW configuration.

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

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Zilina, Olga; Kahre, Tiina; Talvik, Inga; Oiglane-Shlik, Eve; Tillmann, Vallo; Ounap, Katrin

2014-01-01

Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of chromosome 15 or a mixture of hetero- and isodisomic regions across the chromosome 15. Pure maternal isodisomy is observed in only a few matUPD15 patients. Here we report a case of an 18-year-old boy with some clinical features of Prader-Willi syndrome, such as overweight, muscular hypotonia, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation. However, chromosomal microarray analysis (CMA) revealed mosaic loss of heterozygosity of the entire chromosome 15. Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. Taking into consideration the MS-MLPA results and the presence of PWS features in the patient, we concluded that it was matUPD15, although the patient's parents were not enrolled in the study. According to CMA and karyotyping, no trisomic or monosomic cells were present. To the best of our knowledge, only two PWS cases with mosaic maternal isodisomy 15 and without trisomic/monosomic cell lines have been reported so far. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Severe Short Stature in an Adolescent Male with Prader-Willi Syndrome and Congenital Adrenal Hyperplasia: A Therapeutic Conundrum

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Meredith Wasserman

2017-01-01

Full Text Available Congenital adrenal hyperplasia (CAH due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height.

High circulating ghrelin: a potential cause for hyperphagia and obesity in prader-willi syndrome

DEFF Research Database (Denmark)

DelParigi, Angelo; Tschöp, Matthias; Heiman, Mark L

2002-01-01

Prader-Willi syndrome (PWS) is a genetic disorder occurring in 1 of 10,000-16,000 live births and is characterized by excessive appetite with progressive massive obesity as well as short stature and mental retardation. Most patients have GH deficiency and hypogonadotropic hypogonadism. The causes...... of the hyperphagia and abnormal GH secretion are unknown. To determine whether ghrelin, a novel GH secretagogue with orexigenic properties, is elevated in PWS, we measured fasting plasma ghrelin concentration; body composition (dual-energy x-ray absorptiometry); and subjective ratings of hunger (visual analog scale......) in seven subjects (6 males and 1 female; age, 26 +/- 7 yr; body fat, 39 +/- 11%, mean +/- SD) with PWS (diagnosis confirmed by genetic test) and 30 healthy subjects (reference population, 15 males and 15 females; age, 32 +/- 7 yr; body fat, 36 +/- 11%) fasted overnight. All subjects were weight stable...

A Novel Pairwise Comparison-Based Method to Determine Radiation Dose Reduction Potentials of Iterative Reconstruction Algorithms, Exemplified Through Circle of Willis Computed Tomography Angiography.

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Ellmann, Stephan; Kammerer, Ferdinand; Brand, Michael; Allmendinger, Thomas; May, Matthias S; Uder, Michael; Lell, Michael M; Kramer, Manuel

2016-05-01

The aim of this study was to determine the dose reduction potential of iterative reconstruction (IR) algorithms in computed tomography angiography (CTA) of the circle of Willis using a novel method of evaluating the quality of radiation dose-reduced images. This study relied on ReconCT, a proprietary reconstruction software that allows simulating CT scans acquired with reduced radiation dose based on the raw data of true scans. To evaluate the performance of ReconCT in this regard, a phantom study was performed to compare the image noise of true and simulated scans within simulated vessels of a head phantom. That followed, 10 patients scheduled for CTA of the circle of Willis were scanned according to our institute's standard protocol (100 kV, 145 reference mAs). Subsequently, CTA images of these patients were reconstructed as either a full-dose weighted filtered back projection or with radiation dose reductions down to 10% of the full-dose level and Sinogram-Affirmed Iterative Reconstruction (SAFIRE) with either strength 3 or 5. Images were marked with arrows pointing on vessels of different sizes, and image pairs were presented to observers. Five readers assessed image quality with 2-alternative forced choice comparisons. In the phantom study, no significant differences were observed between the noise levels of simulated and true scans in filtered back projection, SAFIRE 3, and SAFIRE 5 reconstructions.The dose reduction potential for patient scans showed a strong dependence on IR strength as well as on the size of the vessel of interest. Thus, the potential radiation dose reductions ranged from 84.4% for the evaluation of great vessels reconstructed with SAFIRE 5 to 40.9% for the evaluation of small vessels reconstructed with SAFIRE 3. This study provides a novel image quality evaluation method based on 2-alternative forced choice comparisons. In CTA of the circle of Willis, higher IR strengths and greater vessel sizes allowed higher degrees of radiation dose

Síndrome de Prader-Labhart-Willi y apnea durante el sueño: A propósito de 3 pacientes Prader-Labhart-Willi syndrome and apnea during sleep: Apropos of 3 patients

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Pedro González Fernández

2004-08-01

Full Text Available El síndrome de Prader-Labhart-Willi (SPW es una entidad que se asocia a trastornos respiratorios durante el sueño, lo que puede tener consecuencias fatales para la vida. Se presentan 3 pacientes con diagnóstico de SPW: 2 del sexo masculino y 1 del femenino. El diagnóstico en todos ellos fue confirmado después de los 2 años de edad. Los hallazgos clínicos más relevantes fueron: talla y peso corporal normal al nacimiento así como hipotonía muscular. En 2 pacientes la obesidad se inició después de los 2 años de edad y en el otro a los 18 meses de nacidos. La acromicria y retraso mental moderado estuvo presente en los 3 pacientes. Los resultados de los cariotipos por técnica de bandas fueron 46XY para los del sexo masculino y 46XX para la del femenino. Los 2 pacientes del sexo masculino presentaron episodios de apnea durante el sueño (Sleep Apnea Syndrome, lo que ocasionó el fallecimiento de ambos por paro respiratorio antes de los 12 años de edad. Se recomienda la vigilancia estrecha de estos pacientes, principalmente durante las infecciones respiratorias y las crisis de asma bronquial.Prader-Labhart-Willi syndrome (PWS is an entity associated with sleep disordered breathing, which may have fatal consequences for life. Three patients with diagnosis of PWS are presented: 2 males and 1 female. The diagnosis in all of them was confirmed after 2 years of age. The most significant clinical findings were: normal height and body weight at birth and muscular hypotonia. In two patients, obesity began at 2 years of age, and in one at 18 months of age. Acromicria and moderate mental retardation were observed in the three patients. The results of the karyotypes by band technique were 46XY for males and 46XX for females. The two male patients had episodes of sleep apnea (Sleep Apnea Syndrome, which caused their death due to respiratory arrest before being 12 years old. It is recommended the close surveillance of these patients, mainly during

Influence of Gender and Age on Average Dimensions of Arteries Forming the Circle of Willis Study by Magnetic Resonance Angiography on Kosovo's Population.

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Shatri, Jeton; Bexheti, Dorentina; Bexheti, Sadi; Kabashi, Serbeze; Krasniqi, Shaip; Ahmetgjekaj, Ilir; Zhjeqi, Valbona

2017-10-15

Circulus arteriosus cerebri is the main source of blood supply to the brain; it connects the left and right hemispheres with anterior and posterior parts. Located at the interpenducular fossa at the base of the brain the circle of Willis is the most important source of collateral circulation in the presence of the disease in the carotid or vertebral artery. The purpose of the research is to study the diameter and length of arteries and provide an important source of reference on Kosovo's population. This is an observative descriptive study performed at the University Clinical Center of Kosovo. A randomised sample of 133 angiographic examinations in adult patients of both sexes who were instructed to exploration is included. The diameters and lengths measured in our study were comparable with other brain-cadaver studies especially those performed by MRA. All dimensions of the arteries are larger in male than female, except the diameter of PCoA that is larger in female (p < 0.05) and length of the ACoA (p < 0.05). Significant differences were found in diameters of arteries between the younger and the older age groups. Knowing the dimensions of the arteries of the circle of Willis has a great importance in interventional radiology as well as during anatomy lessons.

Disorders of Sleep and Ventilatory Control in Prader-Willi Syndrome

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Emily S. Gillett

2016-07-01

Full Text Available Prader-Willi syndrome (PWS is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from failure to thrive during infancy to hyperphagia and morbid obesity during later childhood and onward. Similarly, the phenotype of sleep disordered breathing in PWS patients also evolves over time from predominantly central sleep apnea in infants to obstructive sleep apnea (OSA in older children. Behavioral difficulties are common and may make establishing effective therapy with continuous positive airway pressure (CPAP more challenging when OSA persists after adenotonsillectomy. Excessive daytime sleepiness (EDS is also common in patients with PWS and may continue after OSA is effectively treated. We describe here the characteristic ventilatory control deficits, sleep disordered breathing, and excessive daytime sleepiness seen in individuals with PWS. We review respiratory issues that may contribute to sudden death events in PWS patients during sleep and wakefulness. We also discuss therapeutic options for treating sleep disordered breathing including adenotonsillectomy, weight loss, and CPAP. Lastly, we discuss the benefits and safety considerations related to growth hormone therapy.

Zebrafish Models of Prader-Willi Syndrome: Fast Track to Pharmacotherapeutics

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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.

Good cognitive performances in a child with Prader-Willi syndrome.

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Nugnes, Rosa; Zito, Eugenio; Mozzillo, Enza; Camarca, Maria Erminia; Riccio, Maria Pia; Terrone, Gaetano; Melis, Daniela; Bravaccio, Carmela; Franzese, Adriana

2013-11-15

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional genetic testing revealed a maternal uniparental disomy. Intellectual profile was analyzed by WISC-III and Raven's Progressive Matrices CPM, while the behavior was evaluated by K-SADS-PL and Child Behavior Checklist/4-18 to the parents.WISC-III test showed a Total Intelligence Quotient (T-IQ = 79) at the border level for age. The Verbal Intelligence Quotient (V-IQ) showed a lower score than the Performance Intelligence Quotient (P-IQ) (78 and 85, respectively). Raven's Matrices CPM showed an intelligence level at 75-90° percentile for age. Concerning behavioral evaluation, a difficulty in impulse control was observed, with persistent but controllable search for food, without a clear psychopathological meaning. Also according to K-SADS-PL no areas of psychopathological dimensions were detected. In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities.

Venovenous Extracorporeal Membrane Oxygenation in an Adult Patient With Prader-Willi Syndrome: A Nutrition Case Report.

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Pelekhaty, Stacy; Menaker, Jay

2018-03-12

Prader-Willi Syndrome (PWS) is a genetic condition that results in a constellation of symptoms and typically results in hyperphagia and obesity in adulthood. Critically ill adults with PWS present a unique challenge to the nutrition professional, particularly when they require support modalities such as extracorporeal membrane oxygenation (ECMO). The purpose of this case study is to review the nutrition care of a critically ill adult patient with PWS who required venovenous ECMO. The patient was successfully managed with a hypocaloric, high-protein approach, which did not result in the diagnosis of malnutrition during his hospitalization. The patient was ultimately transitioned off extracorporeal life support and discharged to a rehabilitation facility. © 2018 American Society for Parenteral and Enteral Nutrition.

Subclinical dysphagia in persons with Prader-Willi syndrome.

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Gross, Roxann Diez; Gisser, Ronit; Cherpes, Gregory; Hartman, Katie; Maheshwary, Rishi

2017-02-01

Prader-Willi Syndrome (PWS) is caused by a genetic imprinting abnormality resulting from the lack of expression of the paternal genes at 15q11-q13. Intellectual disability, low muscle tone, and life-threatening hyperphagia are hallmarks of the phenotype. The need for the Heimlich maneuver, death from choking, and pulmonary infection occur in a disproportionally high number of persons with PWS. The widely held belief is that eating behaviors are responsible for choking and aspiration; yet, no investigation had sought to determine if swallowing impairments were present in persons with PWS. To address this research and clinical gap, simultaneous videofluoroscopy and nasal respiratory signals were used to record swallowing function and breathing/swallowing coordination in 30 participants with PWS. Subjects consumed thin liquid and barium cookies under two randomized conditions as follows: (i) controlled (cues to swallow and standardized bolus sizes); (ii) spontaneous (no cues or bolus size control). Under videofluoroscopy, the cohort showed disordered pharyngeal and esophageal swallowing in both conditions with disturbances in timing, clearance, and coordination of swallowing with the respiratory cycle. No participant showed a sensory response such as attempting to clear residue or coughing; thereby supporting the lack of overt symptoms. We conclude that the high death rate from choking and pulmonary infection in children and adults with PWS may be related, in part, to underlying, asymptomatic dysphagia. The combination of rapid eating and dysphagia would increase the risk of aspiration-related morbidity and mortality. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Effects of Adiposity and Prader-Willi Syndrome on Postexercise Heart Rate Recovery

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Diobel M. Castner

2013-01-01

Full Text Available Heart rate recovery (HRR is an indicator of all-cause mortality in children and adults. We aimed to determine the effect of adiposity and Prader-Willi Syndrome (PWS, a congenital form of obesity, on HRR. Sixteen children of normal weight (NW = body fat % ≤85th percentile, 9.4 ± 1.1 y, 18 children with obesity (OB = body fat % >95th percentile, 9.3 ± 1.1 y, and 11 PWS youth (regardless of body fat %; 11.4 ± 2.5 y completed peak and submaximal bike tests on separate visits. HRR was recorded one minute following peak and submaximal exercises. All groups displayed similar HRR from peak exercise, while NW (54 ± 16 beats and OB (50 ± 12 beats exhibited a significantly faster HRR from submaximal exercise than PWS (37 ± 14 beats. These data suggest that excess adiposity does not influence HRR in children, but other factors such as low cardiovascular fitness and/or autonomic dysfunction might be more influential.

Prader-Willi Syndrome: The Disease that Opened up Epigenomic-Based Preemptive Medicine

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Takeo Kubota

2016-03-01

Full Text Available Prader-Willi syndrome (PWS is a congenital neurodevelopmental disorder caused by loss of function of paternally expressed genes on chromosome 15 due to paternal deletion of 15q11–q13, maternal uniparental disomy for chromosome 15, or an imprinting mutation. We previously developed a DNA methylation-based PCR assay to identify each of these three genetic causes of PWS. The assay enables straightforward and rapid diagnosis during infancy and therefore allows early intervention such as nutritional management, physical therapy, or growth hormone treatment to prevent PWS patients from complications such as obesity and type 2 diabetes. It is known that various environmental factors induce epigenomic changes during the perinatal period, which increase the risk of adult diseases such as type 2 diabetes and intellectual disabilities. Therefore, a similar preemptive approach as used in PWS would also be applicable to acquired disorders and would make use of environmentally-introduced “epigenomic signatures” to aid development of early intervention strategies that take advantage of “epigenomic reversibility”.

Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome

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Masao Gito

2015-01-01

Full Text Available Objectives. This study measured gender differences in Prader-Willi syndrome (PWS in regard to the severity of behavioral symptoms. Methods. The Food Related Problem Questionnaire (FRPQ, the Aberrant Behavior Checklist Japanese Version, the Childhood Routines Inventory, the Pervasive Developmental Disorders Autism Society Japan Rating Scale, and Japanese ADHD-RS were administered to PWS patients (45 males aged 6 to 58 and 37 females aged 6 to 45. To examine the effects that gender and genotype have on the severity of each symptom, two-way ANOVAs were conducted. Results. Significant interactions were found only in regard to FRPQ scores, such as FRPQ total score (F(1, 78 = 8.43, p<0.01. The FRPQ of male deletion (DEL individuals was higher than that of female DEL and male mUPD. The FRPQ of male maternal uniparental disomy (mUPD was lower than that of female mUPD. Conclusions. In terms of problem behaviors, routines, autistic behaviors, and hyperactivity, no significant differences were found. Food-related behaviors in DEL were more severe in males, although those in mUPD were less severe in males.

A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

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De Molfetta Greice Andreotti

2002-01-01

Full Text Available Angelman syndrome (AS and Prader-Willi syndrome (PWS are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania

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Elichilia R. Shao

2017-01-01

Full Text Available Obesity, mild intellectual disability, hypotonia, poor sucking, cryptorchidism in males, hypogonadism, and kyphoscoliosis are common features of Prader-Willi syndrome (PWS. We report a case who had severe respiratory complications due to extreme obesity and kyphoscoliosis, which are important causes of morbidity and mortality, and discuss management. Furthermore, this is the first molecularly confirmed PWS case in Sub-Saharan Africa outside South Africa.

Nutritional intervention with hypocaloric diet for weight control in children and adolescents with Prader-Willi Syndrome.

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Lima, Vivian Penner de; Emerich, Deisy Ribas; Mesquita, Maria Luiza Guedes de; Paternez, Ana Carolina Almada Colucci; Carreiro, Luiz Renato Rodrigues; Pina Neto, João Monteiro de; Teixeira, Maria Cristina Triguero Veloz

2016-04-01

Prader-Willi Syndrome (PWS) is a genetic disorder caused by the lack of expression of paternal alleles in the proximal region of the long arm of chromosome 15. Low inhibitory control and hyperphagia are two of the most severe neurobehavioral symptoms of the syndrome. The aim of the present study was to assess the efficiency of nutritional training program with the use hypocaloric diet for weight control in a group of five children and adolescents with PWS. The intervention program consisted of 10 sessions for parents' orientation during 8months. Patients had their anthropometric measures assessed (weight, height and body mass index - BMI). The main results indicate weight maintenance, height increase, and BMI decrease after intervention. These results were considered indicators of the program's efficiency. Copyright © 2016 Elsevier Ltd. All rights reserved.

An 18-year-old patient with Prader-Willi syndrome: a case report on dental management under sedation and general anesthesia.

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Song, Ki Un; Nam, Ok Hyung; Kim, Mi Sun; Choi, Sung Chul; Lee, Hyo-Seol

2015-12-01

Prader-Willi syndrome (PWS) is a rare genetic disorder reported rarely in dentistry. Dental practitioners should know the features of PWS because affected patients have a variety of dental symptoms. The current report describes a case of PWS. An 18-year-old male patient presented with traumatic injuries. Initial emergency treatments were performed under sedation, and further treatments were conducted under general anesthesia. After adequate healing, periodic follow-up and dietary management according to the patient's age and nutritional phase were recommended. Dental management of PWS patients consists of active preventive measures in addition to dietary consultation according to age and nutritional phase.

Dicty_cDB: Contig-U04139-1 [Dicty_cDB

Lifescience Database Archive (English)

Full Text Available Drosophila melanogaster cDNA clone 15... 30 3.6 3 ( EL513628 ) CHUY396.b1_G03.ab1 CHU(XYZ) puzzle sunflower ...Heli... 42 3.7 2 ( EL513966 ) CHUY737.b1_B18.ab1 CHU(XYZ) puzzle sunflower Heli... 42 3.7 2 ( CZ282611 ) cp2

Paradise and Politics in the Music of Blind Willie Johnson

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Owen Coggins

2012-05-01

Full Text Available I investigate the politics of paradises in the 1920s African-American gospel blues of Blind Willie Johnson. His recordings are apocalyptic vignettes which juxtapose and conflate paradises, using many different voices. I describe the theological and political paradises in Johnson’s songs: the Old Testament journey to Canaan; the post-death heaven in the New Testament; Christ’s kingdom on earth in Revelation; freedom in Northern cities or Canada; and a utopian dream of political emancipation of African-Americans and transformation of society in the South. I outline the various voices present in Johnson’s recordings: vocal styles; accompanying singers; the guitar; grammatical, textual and lexical voices; and the silent voices of technology and time. I suggest traces of a subtle political activism in these voices and paradises, and explore uses of these voices in linking paradises, arguing that the complex transitions enhance the force of signification and frustrate attempts to finalise meanings. Many interpretations of Johnson’s recordings, however, seek to determine final meaning, and I discuss the limitations of such attempts, limitations which not only underestimate the richness of the recordings but deny Johnson any political awareness or agency. In cautioning against this kind of project, I call for a hearing open to plural interpretations, and suggest political potential not only in coded messages, but in radical indeterminacy itself.

Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.

Science.gov (United States)

Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

2015-02-01

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader-Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS.

Gastro-oesophageal reflux - an important causative factor of severe tooth wear in Prader-Willi syndrome?

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Saeves, Ronnaug; Strøm, Finn; Sandvik, Leiv; Nordgarden, Hilde

2018-04-23

Prader-Willi syndrome (PWS) is the most common genetic human obesity syndrome and is characterized by hypotonia, endocrine disturbances, hyperphagia, obesity and mild mental retardation. Oral abnormalities, such as decreased salivary flow rates and extreme tooth wear, have also been described. Studies have shown a significant increase in reflux symptoms in individuals with obstuctive sleep apnoea syndrome and increased BMI, both of which are typical findings in PWS. Gastro-oesophageal reflux disease (GORD) has been identified in some individuals with PWS and is a significant intrinsic factor in dental tooth wear. The aim of this study was therefore to estimate the prevalence of GORD in adults and children and to evaluate a possible correlation between GORD and tooth wear in adults with PWS. They were all registered at the TAKO-centre. Twenty-nine individuals, 17 adults with a mean age of 32.6 years (range 18-48) and 12 children with a mean age of 8.8 years (range 3-17), agreed to undergo 24-hour oesophageal pH monitoring, and 90% of those enrolled managed to complete the examination. Four children and eleven adults were diagnosed with pathological gastro-oesophageal reflux, which is defined as acid exposure (pH less than 4) more than 3.6 or 4.3 percent of the time, respectively. Manometry performed in the adult group showed a pathologically high lower oesophageal sphincter pressure in four of the five individuals who had normal oesophageal pH values (pH under 4 less than 4.3% of the time). The two groups (reflux and non-reflux) were well balanced according to BMI, genotype, tooth grinding and hyposalivation. However, twice as many individuals in the reflux group as in the non-reflux group reported high consumption of acidic foods and drinks. Increased tooth wear was significantly correlated with GORD in the two groups (reflux n=6 and non-reflux n=6). The prevalence of gastro-oesophageal reflux is high in individuals with PWS. Tooth wear was strongly associated with

An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome

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Riyas Basheer

2016-01-01

Full Text Available Prader-Willi syndrome (PWS is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m 2 . He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

Evaluating How Circle of Willis Topology Affects Embolus Distribution in the Brain

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Jani, Neel; Mukherjee, Debanjan; Shadden, Shawn

2016-11-01

Embolic stroke occurs when fragmented cellular or acellular material (emboli) travels to the brain to occlude an artery. Understanding the transport of emboli across unsteady, pulsatile flow in complex arterial geometries is challenging and influenced by a range of factors, including patient anatomy. The work herein develops the modeling and mechanistic understanding of how embolus transport is affected by the arterial connections at the base of the brain known as the Circle of Willis (CoW). A majority of the human population has an incomplete CoW anatomy, with connections either missing or ill-developed. We employ numerical simulations combining image-based modeling, computational fluid dynamics, discrete particle dynamics, and a sampling based analysis to compare collateral flow through the most prevalent CoW topologies, to determine embolus distribution fractions among vessels in the CoW, and to investigate the role of inertial effects in causing differences in flow and embolus distribution. The computational framework developed enables characterization of the complex interplay of anatomy, hemodynamics, and embolus properties in the context of embolic stroke as well as statistical analysis of embolism risks across common CoW variations.

An unusual case of adolescent type 2 diabetes mellitus: Prader–Willi syndrome

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Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

2016-01-01

Prader–Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms – polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m2. He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases. PMID:27453871

An unusual case of adolescent type 2 diabetes mellitus: Prader-Willi syndrome.

Science.gov (United States)

Basheer, Riyas; Jalal, Muhammed Jasim Abdul; Gomez, Ramesh

2016-01-01

Prader-Willi syndrome (PWS) is a complex genetic disorder, characterized by neonatal hypotonia, developmental delay, short stature, childhood obesity, hypogonadism, and characteristic facial features. Here we report a 21-year-old male who presented with uncontrolled glycemic status. He was diagnosed to have diabetes mellitus at the age of 15 with osmotic symptoms - polyuria, polydipsia, and polyphagia. In the early period, after diagnosis, his blood sugars were reasonably controlled with oral hypoglycemic agents. However, a year back, he was switched onto insulin therapy due to secondary OHA failure. On examination, his body mass index was 36 kg/m(2). He had bilateral gynecomastia, decreased biparietal diameter, almond shaped eyes with esotropia. He had hypogonadism and also had mild cognitive impairment. He did not have any proximal myopathy or other focal neurological deficits. Hormonal evaluation showed low testosterone and inappropriately normal fluorescence in situ hybridization suggestive of central hypogonadism. With fetal and neonatal hypotonia, delayed developmental milestones, hypogonadism, and early onset diabetes, he fulfilled the clinical criteria for the diagnosis of PWS. Multidisciplinary approach of clinicians together with family and social support are essential to bring out the optimal outcome for such syndromic cases.

Toxicity of phosphor esters: Willy Lange (1900-1976) and Gerda von Krueger (1907-after 1970).

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Petroianu, G A

2010-10-01

In 1851 Williamson serendipitously discovered a new and efficient way to produce ethers using ethyl iodide and potassium salts. Based on this new synthetic approach, the Frenchman Philippe de Clermont and the Muscovite Wladimir Moschnin, both élèves of Adolphe Wurtz in his Paris School of Chemistry, achieved the synthesis of the first ester of pyrophosphoric acid (TEPP). de Clermont "tasted" the new compound and although TEPP is a potent cholinesterase inhibitor he failed to recognize its toxicity. Almost a century later, in 1932, Willy Lange (1900-1976) and his graduate student Gerda v. Krueger (1907-after 1970) described the toxicity of organophosphonates. While the classic paper of the two "Uber Ester der Monofluorphosphorsäure." is cited by almost everybody working in the field, little is known about Lange and almost nothing about v. Krueger. This brief communication attempts to shed some light on the life of both.

Computer-assisted 3D reconstruction of the terminal branches of the cerebral arteries. Pt. 3. Posterior cerebral artery and circle of Willis

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Gloger, S.; Gloger, A.; Vogt, H.; Kretschmann, H.J.

1994-01-01

We present a three-dimensional anatomical computer model of the terminal branches of the posterior cerebral artery and circle of Willis, acquired from equidistant serial anatomical slices of three brains. The reconstructions provide a clear picture from all angles of the complicated course of the terminal branches of the cerebral arteries. This can help to identify the arteries in conventional and magnetic resonance angiography. Our rendition of the cerebral arteries can be matched with CT, MR and PET images to indicate the areas of extension of the individual branches, allowing neuromorphological and functional correlations. (orig.)

Computer-assisted 3D reconstruction of the terminal branches of the cerebral arteries. Pt. 3. Posterior cerebral artery and circle of Willis

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Gloger, S. (Dept. of Neuroanatomy, Hannover Medical School (Germany)); Gloger, A. (Dept. of Neuroanatomy, Hannover Medical School (Germany)); Vogt, H. (Dept. of Neuroanatomy, Hannover Medical School (Germany)); Kretschmann, H.J. (Dept. of Neuroanatomy, Hannover Medical School (Germany))

1994-05-01

We present a three-dimensional anatomical computer model of the terminal branches of the posterior cerebral artery and circle of Willis, acquired from equidistant serial anatomical slices of three brains. The reconstructions provide a clear picture from all angles of the complicated course of the terminal branches of the cerebral arteries. This can help to identify the arteries in conventional and magnetic resonance angiography. Our rendition of the cerebral arteries can be matched with CT, MR and PET images to indicate the areas of extension of the individual branches, allowing neuromorphological and functional correlations. (orig.)

Influence of Gender and Age on Average Dimensions of Arteries Forming the Circle of Willis Study by Magnetic Resonance Angiography on Kosovo’s Population

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Shatri, Jeton; Bexheti, Dorentina; Bexheti, Sadi; Kabashi, Serbeze; Krasniqi, Shaip; Ahmetgjekaj, Ilir; Zhjeqi, Valbona

2017-01-01

BACKGROUND: Circulus arteriosus cerebri is the main source of blood supply to the brain; it connects the left and right hemispheres with anterior and posterior parts. Located at the interpenducular fossa at the base of the brain the circle of Willis is the most important source of collateral circulation in the presence of the disease in the carotid or vertebral artery. AIM: The purpose of the research is to study the diameter and length of arteries and provide an important source of reference on Kosovo’s population. METHODS: This is an observative descriptive study performed at the University Clinical Center of Kosovo. A randomised sample of 133 angiographic examinations in adult patients of both sexes who were instructed to exploration is included. RESULTS: The diameters and lengths measured in our study were comparable with other brain-cadaver studies especially those performed by MRA. All dimensions of the arteries are larger in male than female, except the diameter of PCoA that is larger in female (p < 0.05) and length of the ACoA (p < 0.05). Significant differences were found in diameters of arteries between the younger and the older age groups. CONCLUSION: Knowing the dimensions of the arteries of the circle of Willis has a great importance in interventional radiology as well as during anatomy lessons. PMID:29104678

Assistência multiprofissional em unidade de terapia intensiva ao paciente portador de síndrome de Prader-Willi: um enfoque odontológico

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Juliana Santiago Setti

2012-03-01

Full Text Available A síndrome de Prader-Willi (SPW é uma doença neurocomportamental genética que afeta o desenvolvimento da criança, resultando em obesidade, estatura reduzida, hipotonia, distúrbios endócrinos e déficit cognitivo que podem comprometer a integridade da cavidade oral. O presente estudo tem como finalidade apresentar um caso de paciente branco, masculino, 15 anos de idade portador da referida síndrome cujo exame clínico intra-oral evidenciou presença de placa bacteriana, gengivite, má-oclusão, salivação viscosa e múltiplas lesões ulceradas em lábio, mucosa jugal, gengiva inserida, dorso e ventre lingual e lesões papulares ulceradas em borda lateral da língua. Após realização de biópsia excisional, foi constatada a presença de lesão herpética em cavidade oral e lesões cutâneas típicas do herpes que foram associadas a possível causa de encefalite herpética. Assim, observou-se que grande parcela dos efeitos deletérios da SPW podem ser amenizados com o diagnóstico correto e intervenções terapêuticas e educacionais precoces, sendo importante a atuação de uma equipe multiprofissional integrada e o desenvolvimento de protocolos assistenciais para melhor manejo dos pacientes portadores da síndrome de Prader-Willi.

Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

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Michael D. Fountain

2016-01-01

Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder characterized by neonatal hypotonia, developmental delay/intellectual disability, and characteristic feeding behaviors with failure to thrive during infancy; followed by hyperphagia and excessive weight gain later in childhood. Individuals with PWS also manifest complex behavioral phenotypes. Approximately 25% meet criteria for autism spectrum disorder (ASD. PWS is caused by the absence of paternally expressed, maternally silenced genes at chromosome 15q11-q13. MAGEL2 is one of five protein-coding genes in the PWS-critical domain. Truncating point mutations of the paternal allele of MAGEL2 cause Schaaf-Yang syndrome, which has significant phenotypic overlap with PWS, but is also clinically distinct; based on the presence of joint contractures, and a particularly high prevalence of autism spectrum disorder (up to 75% of affected individuals. The clinical and molecular overlap between PWS and Schaaf-Yang syndrome, but also their distinguishing features provide insight into the pathogenetic mechanisms underlying both disorders.

Myrtaceae, Myrcia squamata (Mattos and D. Legrand Mattos and Myrceugenia seriatoramosa (Kiaersk. D. Legrand and Kausel in Santa Catarina: Distribution extension

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Vieira, F. C. S.

2010-01-01

Full Text Available Myrtaceae have pantropical distribution, with about 3,500 to 5,800 species in the world, and about 1,000in Brazil. In Santa Catarina state, 23 species of Myrceugenia and 37 species of Myrcia, included Gomidesia in this genus,are known. Collection trips were made in the cities of Garuva and Joinville, where Myrcia squamata and Myrceugeniaseriatoramosa were found for the first time in Santa Catarina. Currently, 38 species of Myrcia and 24 of Myrceugenia areconfirmed, increasing the number of Myrtaceae species in this state.

Copy Protection in Jet Set Willy: developing methodology for retrogame archaeology

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John Aycock

2017-04-01

Full Text Available Video games, and more generally computer games, are unquestionably technological artefacts that have cultural significance. Old computer games in particular had to function under technical constraints that would be alien to many modern programmers, while at the same time providing something novel and at first foreign to consumers. How did their creators accomplish their technical feats, and what impact did that have for the player-consumer? The study of 'retro' computer games' implementation is one topic within the nascent area of archaeogaming. Digital rights management (DRM continues to be a major issue in the protection and distribution of content in electronic form. In this article, we study an early example of the implementation of copy protection in the 1984 game Jet Set Willy, something that comprises both physical and digital artefacts. It acts as a vehicle to illustrate a number of methods that we used to understand game implementation, culminating in a full reconstruction of the technique. The methods we cover include: 'traditional' research, along with its limitations in this context; code and data analysis; hypothesis testing; reconstruction. Through this positivist experimental approach, our results are both independently verifiable and repeatable. We also approach the complex context of early DRM, its hacks and workarounds by the player community, and what precipitated the design choices made for this particular game.

Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

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Bieth, Eric; Eddiry, Sanaa; Gaston, Véronique; Lorenzini, Françoise; Buffet, Alexandre; Conte Auriol, Françoise; Molinas, Catherine; Cailley, Dorothée; Rooryck, Caroline; Arveiler, Benoit; Cavaillé, Jérome; Salles, Jean Pierre; Tauber, Maïthé

2015-01-01

The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompassing the SNORD116 gene cluster, but preserving the expression of flanking genes, have been described. We report a 23-year-old woman who presented clinical criteria of PWS, including the behavioural and nutritional features, obesity, developmental delay and endocrine dysfunctions with hyperghrelinemia. We found a paternally transmitted highly restricted deletion of the SNORD116 gene cluster, the shortest described to date (118 kb). This deletion was also present in the father. This finding in a human case strongly supports the current hypothesis that lack of the paternal SNORD116 gene cluster has a determinant role in the pathogenesis of PWS. Moreover, targeted analysis of the SNORD116 gene cluster, complementary to SNRPN methylation analysis, should be carried out in subjects with a phenotype suggestive of PWS. PMID:24916642

Gait patterns in Prader-Willi and Down syndrome patients

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Albertini Giorgio

2010-06-01

Full Text Available Abstract Background Prader-Willi (PWS and Down Syndrome (DS are two genetic disorders characterised by some common clinical and functional features. A quantitative description and comparison of their patterns would contribute to a deeper understanding of the determinants of motor disability in these two syndromes. The aim of this study was to measure gait pattern in PWS and DS in order to provide data for developing evidence-based deficit-specific or common rehabilitation strategies. Methods 19 PWS patients (17.7-40 yr and 21 DS patients (18-39 yr were evaluated with an optoelectronic system and force platforms for measuring kinematic and kinetic parameters during walking. The results were compared with those obtained in a group of normal-weight controls (Control Group: CG; 33.4 + 9.6 yr. Results and Discussion The results show that PWS and DS are characterised by different gait strategies. Spatio-temporal parameters indicated a cautious, abnormal gait in both groups, but DS walked with a less stable strategy than PWS. As for kinematics, DS showed a significantly reduced hip and knee flexion, especially at initial contact and ankle range of motion than PWS. DS were characterised by lower ranges of motion (p Conclusions Our data show that DS walk with a less physiological gait pattern than PWS. Based on our results, PWS and DS patients need targeted rehabilitation and exercise prescription. Common to both groups is the aim to improve hypotonia, muscle strength and motor control during gait. In DS, improving pelvis and hip range of motion should represent a major specific goal to optimize gait pattern.

The use of medical care and the prevalence of serious illness in an adult Prader-Willi syndrome cohort.

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Sinnema, Margje; Maaskant, Marian A; van Schrojenstein Lantman-de Valk, Henny M J; Boer, Harm; Curfs, Leopold M G; Schrander-Stumpel, Constance T R M

2013-08-01

Adults with Prader-Willi syndrome (PWS) have an increased occurrence of several medical conditions. We report on the consequences of high morbidity rates such as prevalence rate of hospital admissions, medication use and surgery in a Dutch cohort of adults with PWS. Special attention is paid to causes and symptoms of serious illness. Participants were contacted via the Dutch Prader-Willi Parent Association and through physicians specializing in persons with ID. The persons with PWS and their main caregivers were visited at home. Information was collected through semi-structured interviews on 102 adults with PWS. The need for medical care in the neonatal period is associated with hypotonia and feeding problems. Hospital admissions for respiratory tract infections are frequent. During childhood most hospital admissions were due to PWS syndrome specific surgery. During adolescence hospital admissions occurred for scoliosis surgery and endocrine evaluations. At adult age, hospitalization was associated with inguinal hernia surgery, diabetes mellitus, psychosis, erysipelas, water and drug intoxications. In the older group, respiratory infections were again the main reason for hospital admissions. Frequently used medications at adult age included psychotropics, laxatives, anti-diabetics and dermatologic preparations. Abnormal drinking patterns, problems with anesthesia, decreased ability to vomit, abnormal pain awareness and unpredictable fever responses were frequent and often lead to delayed diagnoses of serious conditions. People with PWS are frequent users of medical-care. Reasons for hospitalization and medication use are age specific. Knowledge on the different presentation of symptoms in people with PWS is needed. In case of unexplained illness, disturbances of consciousness and behavioral changes in people with PWS, an infection should be ruled out in the first place. Information from this study may help in preventing conditions and recognizing conditions in an

Systematic review of the clinical and genetic aspects of Prader-Willi syndrome

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Dong Kyu Jin

2011-02-01

Full Text Available Prader-Willi syndrome (PWS is a complex multisystem genetic disorder that is caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11&#8211;q13. This syndrome has a characteristic phenotype including severe neonatal hypotonia, early-onset hyperphagia, development of morbid obesity, short stature, hypogonadism, learning disabilities, behavioral problems, and psychiatric problems. PWS is an example of a genetic condition caused by genomic imprinting. It can occur via 3 main mechanisms that lead to the absence of expression of paternally inherited genes in the 15q11.2&#8211;q13 region: paternal microdeletion, maternal uniparental disomy, and an imprinting defect. Over 99% of PWS cases can be diagnosed using DNA methylation analysis. Early diagnosis of PWS is important for effective long-term management. Growth hormone (GH treatment improves the growth, physical phenotype, and body composition of patients with PWS. In recent years, GH treatment in infants has been shown to have beneficial effects on the growth and neurological development of patients diagnosed during infancy. There is a clear need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy in patients with PWS.

Scoliosis in patients with Prader Willi Syndrome – comparisons of conservative and surgical treatment

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Goodall Deborah

2009-05-01

Full Text Available Abstract In children with Prader Willi syndrome (PWS, besides growth hormone (GH therapy, control of the food environment and regular exercise, surgical treatment of scoliosis deformities seems the treatment of choice, even though the risks of spinal surgery in this specific population is very high. Therefore the question arises as to whether the risks of spinal surgery outweigh the benefits in a condition, which bears significant risks per se. The purpose of this systematic review of the Pub Med literature was to find mid or long-term results of spinal fusion surgery in patients with PWS, and to present the conservative treatment in a case study of nine patients with this condition. Methods Types of studies included; all kinds of studies; retrospective and prospective ones, which reported upon the outcome of scoliosis surgery in patients with PWS. Types of participants included: patients with scoliosis and PWS. Type of intervention: surgery. Search strategy for identification of the studies; Pub Med; limited to English language and bibliographies of all reviewed articles. Nine patients with PWS from our data-base treated conservatively have been found, being 19 years or over at the time this study has been performed. The results of conservative management are described and related to the natural history and treatment results found in the Pub Med review. Results From 2210 titles displayed in the Pub Med database with the key word being "Prader Willi syndrome", 5 different papers were displayed at the date of the search containing some information on the outcome of surgery and none appeared to contain a mid or long-term follow-up. The PWS patients treated conservatively from our series all stayed below 70° and some of which improved. Discussion If the curve of scoliosis patients with PWS can be kept within certain limits (usually below 70 degrees conservatively, this treatment seems to have fewer complications than surgical treatments. The

The Effect of Early Political Opinion and the Political Positions on Willy Brandt's Policy towards America

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Judith Michel

2011-05-01

Full Text Available Based on two case studies and using the hermeneutic interpretation of sources, this paper analyzes how Willy BRANDT's early political and cultural orientation and his respective political offices influenced his policy towards the United States of America. The example of the Vietnam war illustrates that his early biographical conditioning, as well as his government office, caused him to restrain from public criticism of American involvement in Southeast Asia. As an elder statesman, after leaving the office of Federal Chancellor, some of the orientations which he had developed during the early phase of the Cold War faded into the background while other early conditionings gained new strength in a modified form. He now took a much more critical line on the American policy towards Latin America which was consistent with his aims as Chairman of the "North-South-Commission" and President of the Socialist International. URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1102122

Nutritient intake of young children with Prader–Willi syndrome

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Marianne Lindmark

2010-03-01

Full Text Available Background: Prader–Willi syndrome (PWS is a rare genetic disorder resulting in obesity. The diets for young children with PWS must balance the importance of preventing development of obesity with the need to supply sufficient energy and essential nutrients. Objective: To investigate the nutritional intake for children with PWS 2, 3, and 4 years of age and compare it with Nordic Nutritional Recommendations (NNR and intake of healthy controls. Design: Assessments of food intake for six children 2–4 years of age were performed twice a year. At the age of 2 and 3 years data was obtained by using food recall interviews and at 4 year of age a pre-coded food-diary was used. Results: The energy intake for the 2-year-old children was 3.25 MJ/day (SD 0.85 and for the 3- and 4-year olds 3.62 MJ/day (SD 0.73 and 4.07 MJ/day (SD 0.39 MJ, respectively. These intakes are 61%, 68%, and 77% of the estimated energy requirements in NNR for healthy 2-, 3- and 4-year-old children, respectively, and 60% and 66% of the energy intakes of 2- and 4-year-old children in reference populations. The children's BMI-for-age score and length growth was within the normal range during the study period. The intake of fat was about 25 E% in all age groups and reduced when compared with reference populations. In 25% of the assessments the fat intake was 20 E% or below. The intake of iron was below recommendations in all age groups both with and without supplementation. The mean intake of vitamin D and tocopherol was below recommendations when intakes were determined excluding dietary supplementations. Conclusions: More large-scale investigations on nutritional intake are needed to further investigate dietary challenges for this patient group.

The High Direct Medical Costs of Prader-Willi Syndrome.

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Shoffstall, Andrew J; Gaebler, Julia A; Kreher, Nerissa C; Niecko, Timothy; Douglas, Diah; Strong, Theresa V; Miller, Jennifer L; Stafford, Diane E; Butler, Merlin G

2016-08-01

To assess medical resource utilization associated with Prader-Willi syndrome (PWS) in the US, hypothesized to be greater relative to a matched control group without PWS. We used a retrospective case-matched control design and longitudinal US administrative claims data (MarketScan) during a 5-year enrollment period (2009-2014). Patients with PWS were identified by Classification of Diseases, Ninth Revision, Clinical Modification diagnosis code 759.81. Controls were matched on age, sex, and payer type. Outcomes included total, outpatient, inpatient and prescription costs. After matching and application of inclusion/exclusion criteria, we identified 2030 patients with PWS (1161 commercial, 38 Medicare supplemental, and 831 Medicaid). Commercially insured patients with PWS (median age 10 years) had 8.8-times greater total annual direct medical costs than their counterparts without PWS (median age 10 years: median costs $14 907 vs $819; P < .0001; mean costs: $28 712 vs $3246). Outpatient care comprised the largest portion of medical resource utilization for enrollees with and without PWS (median $5605 vs $675; P < .0001; mean $11 032 vs $1804), followed by mean annual inpatient and medication costs, which were $10 879 vs $1015 (P < .001) and $6801 vs $428 (P < .001), respectively. Total annual direct medical costs were ∼42% greater for Medicaid-insured patients with PWS than their commercially insured counterparts, an increase partly explained by claims for Medicaid Waiver day and residential habilitation. Direct medical resource utilization was considerably greater among patients with PWS than members without the condition. This study provides a first step toward quantifying the financial burden of PWS posed to individuals, families, and society. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

Antioxidant Effects of Potassium Ascorbate with Ribose Therapy in a Case with Prader Willi Syndrome

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C. Anichini

2012-01-01

Full Text Available Oxidative stress (OS is involved in several human diseases, including obesity, diabetes, atherosclerosis, carcinogenesis, as well as genetic diseases. We previously found that OS occurs in Down Syndrome as well as in Beckwith-Wiedemann Syndrome (BWS. Here we describe the clinical case of a female patient with Prader Willi Syndrome (PWS, a genomic imprinting disorder, characterized by obesity, atherosclerosis and diabetes mellitus type 2, pathologies in which a continuous and important production of free radicals takes place. We verified the presence of OS by measuring a redox biomarkers profile including total hydroperoxides (TH, non protein-bound iron (NPBI, thiols (SH, advanced oxidation protein products (AOPP and isoprostanes (IPs. Thus we introduced in therapy an antioxidant agent, namely potassium ascorbate with ribose (PAR, in addition to GH therapy and we monitored the redox biomarkers profile for four years. A progressive decrease in OS biomarkers occurred until their normalization. In the meantime a weight loss was observed together with a steady growth in standards for age and sex.

Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.

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Santoro, Stephanie L; Hashimoto, Sayaka; McKinney, Aimee; Mihalic Mosher, Theresa; Pyatt, Robert; Reshmi, Shalini C; Astbury, Caroline; Hickey, Scott E

2017-01-01

Maternal uniparental disomy (UPD) 15 is one of the molecular causes of Prader-Willi syndrome (PWS), a multisystem disorder which presents with neonatal hypotonia and feeding difficulty. Current diagnostic algorithms differ regarding the use of SNP microarray to detect PWS. We retrospectively examined the frequency with which SNP microarray could identify regions of homozygosity (ROH) in patients with PWS. We determined that 7/12 (58%) patients with previously confirmed PWS by methylation analysis and microsatellite-positive UPD studies had ROH (>10 Mb) by SNP microarray. Additional assessment of 5,000 clinical microarrays, performed from 2013 to present, determined that only a single case of ROH for chromosome 15 was not caused by an imprinting disorder or identity by descent. We observed that ROH for chromosome 15 is rarely incidental and strongly associated with hypotonic infants having features of PWS. Although UPD microsatellite studies remain essential to definitively establish the presence of UPD, SNP microarray has important utility in the timely diagnostic algorithm for PWS. © 2017 S. Karger AG, Basel.

Molecular cytogenetic analysis of Inv Dup(15) chromosomes, using probes specific for the Pradar-Willi/Angelman syndrome region: Clinical implications

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Leana-Cox, J. (Univ. of Maryland School of Medicine, Baltimore, MD (United States)); Jenkins, L. (Kaiser Permanente Medical Group, San Jose, CA (United States)); Palmer, C.G.; Plattner, R. (Indiana School of Medicine, Indianapolis, IN (United States)); Sheppard, L. (Palo Verde Laboratory, Inc., Chandler, AZ (United States)); Flejter, W.L. (Univ. of Michigan, Ann Arbor, MI (United States)); Zackowski, J. (Univ. of Florida Health Science Center, Gainsville, FL (United States)); Tsien, F. (Tulane Univ. School of Medicine, New Orleans, LA (United States)); Schwartz, S. (Case Western Reserve Univ., Cleveland, OH (United States))

1994-05-01

Twenty-seven cases of inverted duplications of chromosome 15 (inv dup[15]) were investigated by FISH with two DNA probes specific for the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on proximal 15q. Sixteen of the marker chromosomes displayed two copies of each probe, while in the remaining 11 markers no hybridization was observed. A significant association was found between the presence of this region and an abnormal phenotype (P<.01). This is the largest study to date of inv dup(15) chromosomes, that uses molecular cytogenetic methods and is the first to report a significant association between the presence of a specific chromosomal region in such markers and an abnormal phenotype. 30 refs., 1 fig., 4 tabs.

Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments.

Science.gov (United States)

Griggs, Joanne L; Sinnayah, Puspha; Mathai, Michael L

2015-12-01

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder resulting from a deletion in the expression of the paternally derived alleles in the region of 15q11-q13. PWS has a prevalence rate of 1:10,000-1:30,000 and is characterized by marked endocrine abnormalities including growth hormone deficiency and raised ghrelin levels. The hyperphagic phenotype in PWS is established over a number of phases and is exacerbated by impaired satiety, low energy expenditure and intellectual difficulties including obsessive-compulsive disorder and/or autistic behaviours. Clinical management in PWS typically includes familial/carer restriction and close supervision of food intake. If the supervision of food is left unmanaged, morbid obesity eventuates, central to the risk of cardiorespiratory disorder. None of the current appetite management/intervention strategies for PWS include pharmacological treatment, though recent research shows some promise. We review the established aberrant genetics and the endocrine and neuronal attributes which may determine disturbed regulatory processes in PWS. Focusing on clinical trials for appetite behaviours in PWS, we define the effectiveness of pharmacological treatments with a view to initiating and focusing research towards possible targets for modulating appetite in PWS. Copyright © 2015 Elsevier Ltd. All rights reserved.

The neurobiological drive for overeating implicated in Prader-Willi syndrome.

Science.gov (United States)

Zhang, Yi; Wang, Jing; Zhang, Guansheng; Zhu, Qiang; Cai, Weiwei; Tian, Jie; Zhang, Yi Edi; Miller, Jennifer L; Wen, Xiaotong; Ding, Mingzhou; Gold, Mark S; Liu, Yijun

2015-09-16

Prader-Willi syndrome (PWS) is a genetic imprinting disorder characterized mainly by hyperphagia and early childhood obesity. Previous fMRI studies examined the activation of eating-related neural circuits in PWS patients with or without exposures to food cues and found an excessive eating motivation and a reduced inhibitory control of cognitive processing of food. However, the effective connectivity between various brain areas or neural circuitry critically implicated in both the biological and behavioral control of overeating in PWS is largely unexplored. The current study combined resting-state fMRI and Granger causality analysis (GCA) techniques to investigate interactive causal influences among key neural pathways underlying overeating in PWS. We first defined the regions of interest (ROIs) that demonstrated significant alterations of the baseline brain activity levels in children with PWS (n = 21) as compared to that of their normal siblings controls (n = 18), and then carried out GCA to characterize the region-to-region interactions among these ROIs. Our data revealed significantly enhanced causal influences from the amygdala to the hypothalamus and from both the medial prefrontal cortex and anterior cingulate cortex to the amygdala in patients with PWS (P < 0.001). These alterations offer new explanations for hypothalamic regulation of homeostatic energy intake and impairment in inhibitory control circuit. The deficits in these dual aspects may jointly contribute to the extreme hyperphagia in PWS. This study provides both a new methodological and a neurobiological perspective to aid in a better understanding of neural mechanisms underlying obesity in the general public. This article is part of a Special Issue entitled 1618. Copyright © 2015 Elsevier B.V. All rights reserved.

Intranasal carbetocin reduces hyperphagia in individuals with Prader-Willi syndrome.

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Dykens, Elisabeth M; Miller, Jennifer; Angulo, Moris; Roof, Elizabeth; Reidy, Michael; Hatoum, Hind T; Willey, Richard; Bolton, Guy; Korner, Paul

2018-06-21

Prader-Willi syndrome (PWS) is a genetic neurodevelopmental disorder of life-threatening hyperphagia, obesity, intellectual deficits, compulsivity, and other behavioral problems. The efficacy and safety of i.n. carbetocin, an oxytocin analog, was evaluated in a prospective, randomized, double-blinded trial in adolescents with PWS. Eligible patients aged 10-18 years with genetically confirmed PWS were randomized (1:1) to i.n. carbetocin or placebo 3 times daily for 14 days. The primary efficacy endpoint was change in parent/caregiver-rated Hyperphagia in PWS Questionnaire-Responsiveness (HPWSQ-R) total score. Secondary efficacy endpoints included HPWSQ-R behavior, drive, and severity domains; clinician-rated HPWSQ; Children's Yale-Brown Obsessive-Compulsive Severity Scale; food domain of the Reiss Profile; and Clinical Global Impression-Improvement scale. Endpoints were assessed using analysis of covariance. Relationship between primary and secondary endpoints was assessed using Pearson correlation coefficients. Safety was assessed throughout the study. Demographics and clinical characteristics were similar between treatment groups (carbetocin, n = 17; placebo, n = 20). Patients receiving carbetocin had statistically significant reductions in HPWSQ-R total score at study end (-15.6) versus patients receiving placebo (-8.9; P = 0.029); several secondary efficacy endpoints also demonstrated significant differences (P primary and secondary endpoints were highly correlated (P ≤ 0.0001). Incidence of adverse events (AEs) was similar between treatment groups. I.n. carbetocin was well tolerated and improved hyperphagia and behavioral symptoms of PWS. ClinicalTrials.gov: NCT01968187FUNDING. The study was funded by Ferring Pharmaceuticals. Recruitment was aided by ongoing work in PWS performed through Eunice Kennedy Shriver National Institute of Child Health and Human Development grant U54 HD083211.

Growth hormone improves body composition and motor development in infants with Prader-Willi syndrome after six months.

Science.gov (United States)

Whitman, Barbara; Carrel, Aaron; Bekx, Tracy; Weber, Colleen; Allen, David; Myers, Susan

2004-04-01

Infants with Prader-Willi syndrome (PWS) show abnormalities of body composition. Children with PWS treated with growth hormone (GH) demonstrate improved body composition and motor skills. To assess body composition and motor changes in infants with PWS following 6 months GH therapy. Twenty-five infants with PWS (mean age 15.5 mo) underwent dual energy X-ray absorptiometry (DEXA) assessment of body composition, and motor assessment with the Toddler Infant Motor Evaluation (TIME). Patients were then randomized to treatment (Genotropin, 1 mg/m2/day) or control, with reassessment at 6 months. GH treatment significantly increased lean body mass (6.4 +/- 2.4 kg to 8.9 +/- 2.7 kg) and decreased body fat (27.6 +/- 9.9% to 22.4 +/- 10.3%). Age equivalent motor scores improved 4 months in the treated group vs 2 months in controls (p development improvement following 6 months GH therapy. We are investigating whether this improvement leads to long-term reductions in obesity.

Multiple-Vehicle Resource-Constrained Navigation in the Deep Ocean

Science.gov (United States)

2011-09-01

David E. Hardt Chairman, Department Committee on Graduate Students MIT Accepted by...Blackwell, 2007. [84] I.G. Priede, S. Addison, S. Bradley, P.M. Bagley, P. Gray, C. Yau, J.-F. Rolin, J. Blandin, J. Legrand, A. Cremer , U. Witte, O

Anthropometric adjustments are helpful in the interpretation of BMD and BMC Z-scores of pediatric patients with Prader-Willi syndrome.

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Hangartner, T N; Short, D F; Eldar-Geva, T; Hirsch, H J; Tiomkin, M; Zimran, A; Gross-Tsur, V

2016-12-01

Anthropometric adjustments of bone measurements are necessary in Prader-Willi syndrome patients to correctly assess the bone status of these patients. This enables physicians to get a more accurate diagnosis of normal versus abnormal bone, allow for early and effective intervention, and achieve better therapeutic results. Bone mineral density (BMD) is decreased in patients with Prader-Willi syndrome (PWS). Because of largely abnormal body height and weight, traditional BMD Z-scores may not provide accurate information in this patient group. The goal of the study was to assess a cohort of individuals with PWS and characterize the development of low bone density based on two adjustment models applied to a dataset of BMD and bone mineral content (BMC) from dual-energy X-ray absorptiometry (DXA) measurements. Fifty-four individuals, aged 5-20 years with genetically confirmed PWS, underwent DXA scans of spine and hip. Thirty-one of them also underwent total body scans. Standard Z-scores were calculated for BMD and BMC of spine and total hip based on race, sex, and age for all patients, as well as of whole body and whole-body less head for those patients with total-body scans. Additional Z-scores were generated based on anthropometric adjustments using weight, height, and percentage body fat and a second model using only weight and height in addition to race, sex, and age. As many PWS patients have abnormal anthropometrics, addition of explanatory variables weight, height, and fat resulted in different bone classifications for many patients. Thus, 25-70 % of overweight patients, previously diagnosed as normal, were subsequently diagnosed as below normal, and 40-60 % of patients with below-normal body height changed from below normal to normal depending on bone parameter. This is the first study to include anthropometric adjustments into the interpretation of BMD and BMC in children and adolescents with PWS. This enables physicians to get a more accurate diagnosis of

[Endocrine and metabolic features of female children with Prader-Willi syndrome: an analysis of 4 cases].

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Wu, Mo-Ling; Li, Juan; Ding, Yu; Chen, Yao; Chang, Guo-Ying; Wang, Xiu-Min; Wang, Jian; Shen, Yi-Ping

2017-05-01

This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders: 2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P 3 -P 10 and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.

A twin sibling with Prader-Willi syndrome caused by uniparental disomy conceived after in vitro fertilization.

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Atik, T; Aykut, A; Karaca, E; Onay, H; Ozkinay, F; Cogulu, O

2014-01-01

The use of assisted reproductive technologies (ART) has increased gradually in the treatment of infertility worldwide. On the other hand ART has been found to be associated with an increased risk of congenital malformations including imprinting defects as well. Although a number of imprinting syndromes have been reported to be related with ART, no case with uniparental disomy (UPD) caused Prader-Willi syndrome (PWS) [OMIM ID: 176270] has been reported in the literature. Here we present a dizygotic twin in which one of them was born with maternal UPD15 following ART. The proband was a 2-year-old boy who had feeding difficulties, generalized hypotonia, frontal bossing, broad forehead, small hands and feet. Laboratory investigations revealed minimal dilatation in 3rd and 4th ventricles and corpus callosum hypoplasia in magnetic resonance imaging, supravalvular pulmonary stenosis in echocardiography and pelvicaliectasia in the USG examinations. Methylation and microsatellite markers analyses showed maternal UPD for chromosome 15. Here we report, for the first time UPD caused PWS patient born after ART.

Assessment of pretend play in Prader-Willi syndrome: a direct comparison to autism spectrum disorder.

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Zyga, Olena; Russ, Sandra; Ievers-Landis, Carolyn E; Dimitropoulos, Anastasia

2015-04-01

Children with Prader-Willi syndrome (PWS) are at risk for autism spectrum disorder (ASD), including pervasive social deficits. While play impairments in ASD are well documented, play abilities in PWS have not been evaluated. Fourteen children with PWS and ten children with ASD were administered the Autism Diagnostic Observation Schedule (ADOS) (Lord et al. in Autism Diagnostic Observation Schedule manual. Western Psychological Services, Los Angeles, 2006) as part of a larger project. A modified Affect in Play Scale (APS; Russ in Play in child development and psychotherapy: toward empirically supported practice. Lawrence Erlbaum Associates Publishers, Mahwah, 2004; Pretend play in childhood: foundation of adult creativity. APA Books, Washington, 2014) was used to score ADOS play activities. Results indicate both groups scored below normative data on measures of imagination, organization, and affective expression during individual play. In addition, the inclusion of a play partner in both groups increased all scaled scores on the APS. These findings suggest children with PWS show impaired pretend play abilities similar to ASD. Further research is warranted and should focus on constructing and validating programs aimed at improving symbolic and functional play abilities within these populations.

Congenital hypothyroidism due to ectopic sublingual thyroid gland in Prader-Willi Syndrome: a case report.

Science.gov (United States)

Bocchini, Sarah; Fintini, Danilo; Grugni, Graziano; Boiani, Arianna; Convertino, Alessio; Crinò, Antonino

2017-09-22

Thyroid gland disorders are variably associated with Prader-Willi syndrome (PWS). Many of the clinical features in newborns with PWS are similar to those found in congenital hypothyroidism (CH). We report a case of a girl with CH and PWS. At the age of 9 months CH caused by an ectopic sublingual thyroid was diagnosed, and hormone replacement therapy was started. In spite of this treatment a decrease in growth velocity, weight excess and delayed development were observed. At the age of 9 years PWS was suspected on the basis of phenotype and genetic tests confirmed a maternal uniparental disomy of chromosome 15. This is the second reported case of hypothyroidism due to an ectopic sublingual thyroid gland in PWS suggesting that, although rare, an association between CH and PWS may exist. In our case diagnosis of PWS was delayed because mental retardation, hypotonia, obesity and short stature were initially attributed to hypothyroidism. In this context PWS should be considered in obese children with CH who do not improve adequately with l-thyroxine therapy. Also, thyroid function in all PWS children should be assessed regularly in order to avoid delayed diagnosis of hypothyroidism.

Postural adaptations to long-term training in Prader-Willi patients

Science.gov (United States)

2011-01-01

Background Improving balance and reducing risk of falls is a relevant issue in Prader-Willi Syndrome (PWS). The present study aims to quantify the effect of a mixed training program on balance in patients with PWS. Methods Eleven adult PWS patients (mean age: 33.8 ± 4.3 years; mean BMI: 43.3 ± 5.9 Kg/m2) attended a 2-week training program including balance exercises during their hospital stay. At discharge, Group 1 (6 patients) continued the same exercises at home for 6 months, while Group 2 (5 patients) quitted the program. In both groups, a low-calorie, well-balanced diet of 1.200 kcal/day was advised. They were assessed at admission (PRE), after 2 weeks (POST1) and at 6-month (POST2). The assessment consisted of a clinical examination, video recording and 60-second postural evaluation on a force platform. Range of center of pressure (CoP) displacement in the antero-posterior direction (RANGEAP index) and the medio-lateral direction (RANGEML index) and its total trajectory length were computed. Results At POST1, no significant changes in all of the postural parameters were observed. At completion of the home program (POST2), the postural assessment did not reveal significant modifications. No changes in BMI were observed in PWS at POST2. Conclusions Our results showed that a long-term mixed, but predominantly home-based training on PWS individuals was not effective in improving balance capacity. Possible causes of the lack of effectiveness of our intervention include lack of training specificity, an inadequate dose of exercise, an underestimation of the neural and sensory component in planning rehabilitation exercise and failed body weight reduction during the training. Also, the physiology of balance instability in these patients may possibly compose a complex puzzle not affected by our exercise training, mainly targeting muscle weakness. PMID:21575153

Weight control and behavior rehabilitation in a patient suffering from Prader Willi syndrome.

Science.gov (United States)

Di Lorenzo, Rosaria; Sberveglieri, Sara; Marrama, Donatella; Landi, Giulia; Ferri, Paola

2016-04-01

This study reports a case of Prader Willi syndrome (PWS), a genomic imprinting disease related to chromosome regions 15q11.2-q13 15, which includes hypothalamic dysfunction leading to hyperphagia, obesity, shortness, sleep abnormalities. Our case is extremely severe, in comparison to other PWS cases described in literature, due to the association with severe emotional and psychiatric symptoms: oppositional behaviour, rigidity of thought, skin picking and pathological hoarding. We described the case of a Caucasian male patient suffering from PWS, treated in outpatient care by local Mental Health Centre and supported by Social Service, who was admitted to a residential rehabilitative facility. After a 2-year follow-up, the patient showed a global improvement in symptoms and functioning, as registered by the rating scales administered. At the end of observation period, we also reported an important improvement in weight control, reducing the risk of obesity and related diseases, therefore improving the prognosis of life. This case highlights the need for long-term, individualized and multi-professional treatment in patients suffering from a complex genetic syndrome with both organic and psychological alterations, for which medical care setting and pharmacological treatments are not sufficient. Clinical observation of this case leads us to compare PWS to drug addiction and indirectly endorse the neurophysiological hypothesis that food and drugs stimulate the same brain circuits in the limbic system.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

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Hickey, Scott E; Thrush, Devon Lamb; Walters-Sen, Lauren; Reshmi, Shalini C; Astbury, Caroline; Gastier-Foster, Julie M; Atkin, Joan

2013-09-01

We describe an 11 month old female with Prader-Willi syndrome (PWS) resulting from an atypically large deletion of proximal 15q due to a de novo 3;15 unbalanced translocation. The 10.6 Mb deletion extends from the chromosome 15 short arm and is not situated in a region previously reported as a common distal breakpoint for unbalanced translocations. There was no deletion of the reciprocal chromosome 3q subtelomeric region detected by either chromosomal microarray or FISH. The patient has hypotonia, failure to thrive, and typical dysmorphic facial features for PWS. The patient also has profound global developmental delay consistent with an expanded, more severe, phenotype. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

Energy Expenditure and Physical Activity in Prader–Willi Syndrome

Science.gov (United States)

Butler, Merlin G.; Theodoro, Mariana F.; Bittel, Douglas C.; Donnelly, Joseph E.

2017-01-01

Prader–Willi syndrome (PWS) is a complex neurodevelopmental disorder characterized by hypotonia, suck and feeding difficulties, hypogonadism, small hands and feet, developmental delay, hyperphagia and early childhood obesity and a particular facial appearance. The obesity associated with PWS is the result of a chronic imbalance between energy intake and energy expenditure (EE) due to hyperphagia, decreased physical activity, reduced metabolic rate and an inability to vomit. EE is affected by body composition as well as exercise. Individuals with PWS have a lower lean body mass (LBM) compared with controls which may contribute to reduced basal level EE. To determine the relationship among body composition, activity levels and metabolic rates, dual energy X-ray absorptiometry (DEXA) and a whole-room respiration chamber were used to measure body composition, total EE (TEE), resting EE (REE), physical activity, and mechanical work (MW) during an 8 hr monitoring period. The chamber consisted of a live-in whole-room indirect calorimeter equipped with a force platform floor to allow simultaneous measurement of EE, physical activity, and work efficiency during spontaneous activities and standardized exercise. Participants with PWS (27 with 15q11–q13 deletion and 21 with maternal disomy 15 with an average age of 23 years) had significantly decreased TEE by 20% and reduced LBM compared to 24 obese subjects. Similarly, REE was significantly reduced by 16% in the individuals with PWS relative to the comparison subjects. Total MW performed during the 8 hr monitoring period was significantly reduced by 35% in the PWS group. The energy cost of physical activity is related to the duration, intensity and type of activity and the metabolic efficiency of the individual. After adjusting group differences in LBM by analysis of variance, TEE and REE were no longer different between the two groups. Our data indicate that there is a significant reduction of EE in individuals with PWS

Genetic factors in human sleep disorders with special reference to Norrie disease, Prader-Willi syndrome and Moebius syndrome.

Science.gov (United States)

Parkes, J D

1999-06-01

Sleep-wake problems are common in specific inborn errors of metabolism and structure of the central nervous system. Psychological factors, behavioural difficulties, metabolic disturbances, and widespread rather than focal damage to the nervous system are present in many of these diseases and all influence the sleep-wake cycle. However, a number of conditions cause relatively focal damage to the neuroanatomical substrate of sleeping and waking. These include fatal familial insomnia, with involvement of the prion protein gene on chromosome 20, Norrie disease, the Prader-Willi syndrome and the Moebius syndrome. The last three important conditions, although rare, are considered in detail in this review. They result in sensory deprivation, hypothalamic and mid-brain damage, and involve the X-chromosome, chromosome 15, and chromosome 13, respectively. These conditions cause a wide variety of sleep disturbance, including parasomnias, daytime sleepiness, and a condition like cataplexy. The place of the relevant gene products in normal sleep regulation needs further exploration.

Treino parental para manejo comportamental de crianças com Síndrome de Prader-Willi: impacto sobre a saúde mental e práticas educativas do cuidador

Directory of Open Access Journals (Sweden)

Maria Luiza Guedes de Mesquita

Full Text Available RESUMO Objetivo: verificamos os indicadores de impacto na saúde mental de cuidadores de um programa de treinamento parental para manejo de crianças e adolescentes com Síndrome de Prader-Willi. Métodos: a amostra foi composta por 5 mães de crianças/adolescentes com Síndrome de Prader-Willi entre 6 a 18 anos. Os instrumentos de coleta de dados foram: a Questionário para verificação de conhecimentos das mães sobre a síndrome, b Inventário de Auto-avaliação para Adultos de 18 a 59 anos, c Inventário de Estilos Parentais/Práticas educativas maternas e paternas; d Levantamento de dificuldades e preocupações sobre os filhos. O estudo foi realizado em quatro fases: pré-intervenção, intervenção, pós-intervenção e seguimento. Resultados: as mães passaram a adotar práticas parentais educativas baseadas na monitoria positiva, diminuíram as práticas de risco. Conclusão: houve melhora em indicadores de dificuldades emocionais das mães, apreenderam a identificar e manejar fatores que prejudicavam a saúde física, o comportamento e a aprendizagem escolar dos filhos e a necessidade do envolvimento de outros familiares no cuidado do filho.

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

Directory of Open Access Journals (Sweden)

Aram Yang

2015-03-01

Full Text Available PurposePrader-Willi syndrome (PWS is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might be related to the pathogenesis of microdeletion in PWS. In this study, we investigated birth seasonality in Korean PWS.MethodsA total of 211 PWS patients born from 1980 to 2014 were diagnosed by methylation polymerase chain reaction at Samsung Medical Center. Of the 211 patients, 138 were born from 2000-2013. Among them, the 74 patients of a deletion group and the 22 patients of a maternal uniparental disomy (UPD group were compared with general populations born from 2000 using the Walter and Elwood method and cosinor analysis.ResultsThere was no statistical significance in seasonal variation in births of the total 211 patients with PWS (χ2=7.2522, P=0.2982. However, a significant difference was found in the monthly variation between PWS with the deletion group and the at-risk general population (P<0.05. In the cosinor model, the peak month of birth for PWS patients in the deletion group was January, while the nadir occurred in July, with statistical significance (amplitude=0.23, phase=1.2, low point=7.2. The UPD group showed the peak birth month in spring; however, this result was not statistically significant (χ2=3.39, P=0.1836.ConclusionCorrelation with birth seasonality was identified in a deletion group of Korean PWS patients. Further studies are required to identify the mechanism related to seasonal effects of environmental factors on microdeletion on chromosome 15.

Exploration of Willis'circle by digital angiography. Its value for the detection of high risk carotid clamping

International Nuclear Information System (INIS)

Fermand, M.; Melki, J.P.; Chaufour, J.; Riche, M.C.

1988-01-01

Radiological studies of Willis' circle morphology are mainly performed in search of intracerebral aneurysms, and for this purpose digital imaging has not superseded conventional radiology. In contrast, conventional imaging does not seem to have given satisfactory results in the functional study of this substitute vascular network, and it is in this field that digital angiography is of particular value. Between January, 1985 and June, 1986, we performed 300 digital angiographies of the supra-aortic vessels in patients with carotid artery stenosis. Each exploration included a stage of investigation for intracranial substitute vessels by compression of the carotid artery on the side of the lesion. Substitute vessels were found to be adequate in 93 p. 100 of the cases. The test showed that there was no alternative blood flow in 3.7 p. 100 of the cases, which made it imperative to use brain protection measures during clamping of the carotid artery. The substitute network was found to be insufficient in 1 p. 100 of the cases, and the method failed in 2.4 p. 100 [fr

1531-IJBCS-Article-Petemagnan Jean Marie

African Journals Online (AJOL)

hp

state anaerobic digestion of Korean food wastes. Bioressource Technology, 22: 245-253. Chynoweth DP, Owens JM, Legrand R. 2001. Renewable methane from anaerobic digestion of biomass. Renewable Energy,. 22: 1-8. Duncker LC, Matsebe GN, Moilwa N. 2007. The social/cultural acceptability of using human excreta ...

Diffraction imaging study of the phase coexistence around the triple point in MnP

International Nuclear Information System (INIS)

Medrano, C.; Pernot, E.; Espeso, J.I.; Boller, E.; Lorut, F.; Baruchel, J.

2001-01-01

The coexistence of the helimagnetic, ferromagnetic and fan phases in the neighborhood of the triple point is investigated by real-time Bragg diffraction imaging in a (0 0 1) MnP crystal. When increasing the field while retaining the heli-ferromagnetic coexistence, the nucleation of the fan phase occurs inside the present interface. The shapes and orientations of the heli-ferromagnetic and fan-helimagnetic interfaces can be understood by considering the corresponding elastic and/or magnetostatic energy. The ferromagnetic-fan thick interface, on the contrary, suggests the existence of intermediate states

Assessment of fat-free mass from bioelectrical impedance analysis in obese women with Prader-Willi syndrome.

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Bedogni, Giorgio; Grugni, Graziano; Tringali, Gabriella; Agosti, Fiorenza; Sartorio, Alessandro

2015-01-01

Fat-free mass (FFM) is lower in obese subjects with Prader-Willi syndrome (PWS) than in obese subjects without PWS. FFM prediction equations developed in non-PWS subjects may, thus, not work in PWS subjects. To test whether the estimation of FFM from bioelectrical impedance analysis (BIA) in PWS subjects requires population-specific equations. Using dual-energy X-ray absorptiometry, this study measured FFM in 27 PWS and 56 non-PWS obese women and evaluated its association with the impedance index at 50 kHz (ZI50), i.e. the ratio between squared height and whole-body impedance at 50 kHz. At the same level of ZI50, PWS women had a lower FFM than non-PWS women. However, when PWS-specific equations were used, FFM was accurately estimated at the population level. An equation employing a dummy variable coding for PWS status was able to explain 85% of the variance of FFM with a root mean squared error of 3.3 kg in the pooled sample (n = 83). Population-specific equations are needed to estimate FFM from BIA in obese PWS women.

Neonatal Features of The Prader-Willi Syndrome; The Case for Making The Diagnosis During The First Week of Life.

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Çizmecioğlu, Filiz Mine; Jones, Jeremy Huw; Forsyth Paterson, Wendy; Kherra, Sakina; Kourime, Mariam; McGowan, Ruth; Shaikh, M Guftar; Donaldson, Malcolm

2018-03-19

Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight 28 days: 1-12 months in 7; and 3.75-10.5 years in 5. Typical PWS features in these 12 infants included hypotonia (100%), feeding difficulties (75%), cryptorchidism (83% males) and reduced FM (66%). Causes other than PWS including neuromuscular disease were considered in nine patients. Neonatal hypotonia, reduced FM, feeding difficulties and cryptorchidism should immediately suggest PWS, yet late diagnosis continues in some cases. Awareness of the typical features of PWS in newborn units is required to allow prompt detection even in the presence of confounding factors such as prematurity.

Special Care Dentistry in a Patient with Prader-Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia.

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Roman-Torres, Caio Vinícius Gonçalves; Kussaba, Sérgio Takashi; Bantim, Yasmin Comoti Vita; de Oliveira, Roberta de Barros Antunes Almeida

2017-01-01

Prader-Willi syndrome described in 1956 has a genetic origin, affecting both genders, varying in presence and intensity from individual to individual. A precocious diagnosis, before the manifestation of symptoms, has brought some improvement in the quality of life of the carriers in the last years. The objective of this case report was to describe the treatment realized in a 3-year-old boy who presented grade II obesity, difficulty of locomotion, hypotonia, and history of cardiopathy. A dental treatment under general anesthesia was defined, allowing an oral adequation in a single section, in which it was planned the extraction of the element 74 and atraumatic restorative treatment (ART) technique in the other teeth. The precocious intervention in this 3-year-old patient by the therapy realized with ART under general anesthesia was done with success, avoiding unnecessary extractions, preserving dental elements, and maintaining the oral cavity in adequate function.

MR of the pituitary in patients with Prader-Willi syndrome: size determination and imaging findings

Energy Technology Data Exchange (ETDEWEB)

Miller, L. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Angulo, M. [Dept. of Pediatrics, Div. of Endocrinology and Genetics, Winthrop University Hospital, Mineola, NY (United States); Price, D. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States); Taneja, S. [Dept. of Radiology, Winthrop University Hospital, Mineola, NY (United States)

1996-01-01

Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion. We studied 15 GH-deficient PWS patients by magnetic resonance imaging (MRI) to determine whether there was a diminution in the gross morphological size of the anterior pituitary gland, the site of GH synthesis. We also set out to catalog the pertinent imaging findings in this patient population. Our results indicate that this is the first report documenting pituitary size by MRI in PWS patients. No statistically significant difference was found in the height of the anterior pituitary gland in PWS patients compared with either normal children or children with isolated GH deficiency. An interesting imaging finding is that three of 15 patients (20%) demonstrated complete absence of the posterior pituitary bright spot (PPBS), and a fourth patient demonstrated a small PPBS. These observations reflect an objective physiologic disturbance in the hypothalamus. The clinical and radiologic implications of these findings are discussed. (orig.)

Phenotype of a child with Angelman syndrome born to a woman with Prader-Willi syndrome.

Science.gov (United States)

Ostergaard, John R

2015-09-01

This report describes the phenotype, from early childhood to adolescence, of a girl with Angelman syndrome (AS) born following a maternal transmission of a germline paternal 15q11.2-q13 deletion. During early childhood, she showed a typical AS phenotype, such as jerky movements, poor sleep, high voltage electroencephalography pattern, epilepsy, and a severe developmental disability. As she grew older, indications of phenotypical traits similar to Prader-Willi syndrome (PWS) appeared, in particular hyperphagic behavior and a body fat distribution similar to that reported in PWS. She generally showed cheerful AS behavior and had the characteristic outbursts of laughter, but her attitude to other people did not reflect the usual shared enjoyment of interaction seen in children with AS. In unfamiliar surroundings, she withdrew socially, similar to children with PWS, and her insistence on the same, rigid routines was similar to behavior patterns in PWS. The dysmorphic facial features that characterize AS were blurred in adolescence. The specified features that this AS patient had in common with PWS were hardly incidental and, if verified by upcoming case reports of children born to women with a paternal 15q11.2-q13 deletion, they may show new aspects of genetic imprinting. © 2015 Wiley Periodicals, Inc.

A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy.

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Ludwig, Natasha G; Radaeli, Rafael F; Silva, Mariana M X; Romero, Camila M; Carrilho, Alexandre J F; Bessa, Danielle; Macedo, Delanie B; Oliveira, Maria L; Latronico, Ana Claudia; Mazzuco, Tânia L

2016-01-01

Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test. Therapy with recombinant human growth hormone (rhGH) replacement (0.15 IU/kg/day) was started. Later, he presented psychomotor agitation, aggressive behavior, and increased testicular volume. Laboratory analyses were consistent with the diagnosis of CPP (gonadorelin-stimulated LH peak 15.8 IU/L, testosterone 54.7 ng/dL). The patient was then treated with gonadotropin-releasing hormone analog (GnRHa). Hypothalamic dysfunctions have been implicated in hormonal disturbances related to pubertal development, but no morphologic abnormalities were detected in the present case. Additional methylation analysis (MS-MLPA) of the chromosome 15q11 locus confirmed PWS diagnosis. We presented the fifth case of CPP in a genetically-confirmed PWS male. Combined therapy with GnRHa and rhGH may be beneficial in this rare condition of precocious pubertal development in PWS.

L-NIL prevents renal microvascular hypoxia and increase of renal oxygen consumption after ischemia-reperfusion in rats

NARCIS (Netherlands)

Legrand, Matthieu; Almac, Emre; Mik, Egbert G.; Johannes, Tanja; Kandil, Asli; Bezemer, Rick; Payen, Didier; Ince, Can

2009-01-01

Legrand M, Almac E, Mik EG, Johannes T, Kandil A, Bezemer R, Payen D, Ince C. L-NIL prevents renal microvascular hypoxia and increase of renal oxygen consumption after ischemia-reperfusion in rats. Am J Physiol Renal Physiol 296: F1109-F1117, 2009. First published February 18, 2009;

Experimental study of hemodynamics in the Circle of Willis.

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Zhu, Guangyu; Yuan, Qi; Yang, Jian; Yeo, Joon

2015-01-01

The Circle of Willis (CoW) is an important collateral pathway of the cerebral blood flow. An experimental study of the cerebral blood flow (CBF) distribution in different anatomical variations may help to a better understanding of the collateral mechanism of the CoW. An in-vitro test rig was developed to simulate the physiological cerebral blood flow in the CoW. Ten anatomical variations were considered in this study, include a set of different degrees of stenosis in L-ICA and L-ICA occlusion coexist with common anatomical variations. Volume flow rates of efferent arteries and pressure signals at the end of communicating arteries of each case were recorded. Physiological pressure waveforms were applied as inlet boundary condition. In the development of L-ICA stenosis, the total CBF decreases with the increase of stenosis degree. The blood supply of ipsilateral middle cerebral artery (MCA) was affected most by the stenosis of L-ICA. Anterior communicating artery (ACoA) and ipsilateral posterior communicating artery (PCoA) function as important collateral pathways of cerebral collateral circulation when unilateral stenosis occurred. The blood supply of anterior cerebral circulation was compensated by the posterior cerebral circulation through ipsilateral PCoA when L-ICA stenosis degree is greater than 40% and the affected side was compensated immediately by the unaffected side through ACoA. Blood flow of the anterior circulation and the total CBF reached the minimum among all cases studied when L-ICA occlusion coexist with the absence of PCoA. The results demonstrated the flow distribution patterns of the CoW under anatomical variations and clarified the collateral mechanism of the CoW. The flow ACoA is the most sensitive indexes to the morphology change of ipsilateral ICA. The relative independence of the circulation in anterior and posterior sections of the CoW is not broken and the function of ipsilateral PCoA is not activated until a severe stenosis of unilateral

Exploration of Willis'circle by digital angiography. Its value for the detection of high risk carotid clamping

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Fermand, M.; Melki, J.P.; Chaufour, J.; Riche, M.C.

1988-05-14

Radiological studies of Willis' circle morphology are mainly performed in search of intracerebral aneurysms, and for this purpose digital imaging has not superseded conventional radiology. In contrast, conventional imaging does not seem to have given satisfactory results in the functional study of this substitute vascular network, and it is in this field that digital angiography is of particular value. Between January, 1985 and June, 1986, we performed 300 digital angiographies of the supra-aortic vessels in patients with carotid artery stenosis. Each exploration included a stage of investigation for intracranial substitute vessels by compression of the carotid artery on the side of the lesion. Substitute vessels were found to be adequate in 93 p. 100 of the cases. The test showed that there was no alternative blood flow in 3.7 p. 100 of the cases, which made it imperative to use brain protection measures during clamping of the carotid artery. The substitute network was found to be insufficient in 1 p. 100 of the cases, and the method failed in 2.4 p. 100.

The arterial circle of Willis of the mouse helps to decipher secrets of cerebral vascular accidents in the human.

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Okuyama, Shinichi; Okuyama, Jun; Okuyama, Junko; Tamatsu, Yuichi; Shimada, Kazuyuki; Hoshi, Hajime; Iwai, Junichi

2004-01-01

The human brain represents an elaborate product of hominizing evolution. Likewise, its supporting vasculature may also embody evolutionary consequences. Thus, it is conceivable that the human tendency to develop cerebral vascular accidents (CVAs) might represent a disease of hominization. In a search for hominizing changes on the arterial circle of Willis (hWAC), we attempted an anatomical comparison of the hWAC with that of the mouse (mWAC) by injecting aliquots of resin into the vasculature of the mouse and then creating vascular endocasts of the mWAC. The internal carotid artery of the mouse (mICA) unites with the mWAC midway between the middle cerebral artery (mMCA) and posterior cerebral artery (mPCA). The mWAC does not complete a circle: the mWAC nourishes the anterior portion of the circle which branches out to the olfactory artery (OlfA) and mPCA, along with the mMCA, and the basilar artery (mBA) does not connect to the mPCA. The OlfA is thicker than the mMCA. The relative brain weight of the mouse was 74 g on average for a 60 kg male and 86 g for a 60 kg female, respectively, as compared with 1424 g for a 60 kg man. These findings are consistent with the mouse being a nocturnal carnivore that lives on olfactory information in contrast to the human that lives diurnally and depends on visual and auditory information. In man, the human ICA (hICA) unites with the hWAC at a point where the human middle cerebral artery (hMCA) branches out, and thus, blood from the hICA does not flow through the hWAC but drains into the hMCA directly. The hMCA is thicker than the anterior cerebral artery. The hPCA receives blood from the hBA rather than from the hICA, and thus, the entire hWAC forms a closed circuit. Since the hICA drains directly into the hMCA without flowing a distance through the hWAC, the capacitor and equalizer functions of the WAC will be mitigated so much that the resultant hemodynamic changes would render the hMCA more likely to contribute to CVAs. Thus

Special Care Dentistry in a Patient with Prader–Willi Syndrome through the Use of Atraumatic Restorative Treatment under General Anesthesia

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Caio Vinícius Gonçalves Roman-Torres

2017-01-01

Full Text Available Prader–Willi syndrome described in 1956 has a genetic origin, affecting both genders, varying in presence and intensity from individual to individual. A precocious diagnosis, before the manifestation of symptoms, has brought some improvement in the quality of life of the carriers in the last years. The objective of this case report was to describe the treatment realized in a 3-year-old boy who presented grade II obesity, difficulty of locomotion, hypotonia, and history of cardiopathy. A dental treatment under general anesthesia was defined, allowing an oral adequation in a single section, in which it was planned the extraction of the element 74 and atraumatic restorative treatment (ART technique in the other teeth. The precocious intervention in this 3-year-old patient by the therapy realized with ART under general anesthesia was done with success, avoiding unnecessary extractions, preserving dental elements, and maintaining the oral cavity in adequate function.

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

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

2015-07-15

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

Serum adiponectin levels in adults with Prader-Willi syndrome are independent of anthropometrical parameters and do not change with GH treatment

DEFF Research Database (Denmark)

Hoybye, Charlotte; Bruun, Jens M; Richelsen, Bjorn

2004-01-01

it of interest to measure adiponectin levels in PWS. PATIENTS AND METHODS: 17 adults, nine men and eight women, 17 to 32 years of age, with a mean body mass index (BMI) of 35+/-3.2 kg/m2 participated. All had clinical PWS. They were randomized to treatment with placebo or GH (Genotropin) for six months......OBJECTIVE: Obesity and growth hormone (GH) deficiency are common in Prader-Willi syndrome (PWS) and these patients are at risk of metabolic diseases in adult life and of reduced life span. Low adiponectin values are associated with obesity and the metabolic syndrome. We therefore found......, and subsequently all received GH for 12 months. At baseline, serum total adiponectin levels in the PWS patients were compared with 25 lean and 34 obese controls. Body composition and various metabolic parameters, including adiponectin, were studied every six months in the PWS group. RESULTS: Serum adiponectin...

Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.

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Emily Y Smith

2011-12-01

Full Text Available The Prader-Willi syndrome (PWS [MIM 17620] and Angelman syndrome (AS [MIM 105830] locus is controlled by a bipartite imprinting center (IC consisting of the PWS-IC and the AS-IC. The most widely accepted model of IC function proposes that the PWS-IC activates gene expression from the paternal allele, while the AS-IC acts to epigenetically inactivate the PWS-IC on the maternal allele, thus silencing the paternally expressed genes. Gene order and imprinting patterns at the PWS/AS locus are well conserved from human to mouse; however, a murine AS-IC has yet to be identified. We investigated a potential regulatory role for transcription from the Snrpn alternative upstream exons in silencing the maternal allele using a murine transgene containing Snrpn and three upstream exons. This transgene displayed appropriate imprinted expression and epigenetic marks, demonstrating the presence of a functional AS-IC. Transcription of the upstream exons from the endogenous locus correlates with imprint establishment in oocytes, and this upstream exon expression pattern was conserved on the transgene. A transgene bearing targeted deletions of each of the three upstream exons exhibited loss of imprinting upon maternal transmission. These results support a model in which transcription from the Snrpn upstream exons directs the maternal imprint at the PWS-IC.

Types of the cerebral arterial circle (circle of Willis in a Sri Lankan Population

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Gunasekera WSL

2011-01-01

Full Text Available Abstract Background The variations of the circle of Willis (CW are clinically important as patients with effective collateral circulations have a lower risk of transient ischemic attack and stroke than those with ineffective collaterals. The aim of the present cadaveric study was to investigate the anatomical variations of the CW and to compare the frequency of prevalence of the different variations with previous autopsy studies as variations in the anatomy of the CW as a whole have not been studied in the Indian subcontinent. Methods The external diameter of all the arteries forming the CW in 225 normal Sri Lankan adult cadaver brains was measured using a calibrated grid to determine the prevalence in the variation in CW. Chisquared tests and a correspondence analysis were performed to compare the relative frequencies of prevalence of anatomical variations in the CW across 6 studies of diverse ethnic populations. Results We report 15 types of variations of CW out of 22 types previously described and one additional type: hypoplastic precommunicating part of the anterior cerebral arteries (A1 and contralateral posterior communicating arteries (PcoA 5(2%. Statistically significant differences (p Conclusion The present study reveals that there are significant variations in the CW among intra and inter ethnic groups (Caucasian, African and Asian: Iran and Sri Lanka dominant populations, and warrants further studies keeping the methods of measurements, data assessment, and the definitions of hypoplasia the same.

Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.

Science.gov (United States)

Miller, Nichol L G; Wevrick, Rachel; Mellon, Pamela L

2009-01-15

Prader-Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, obesity and hypogonadotrophic hypogonadism, all highly suggestive of hypothalamic dysfunction. The NDN gene, encoding the MAGE family protein, necdin, maps to the PWS chromosome region and is highly expressed in mature hypothalamic neurons. Adult mice lacking necdin have reduced numbers of gonadotropin-releasing hormone (GnRH) neurons, but the mechanism for this reduction is unknown. Herein, we show that, although necdin is not expressed in an immature, migratory GnRH neuronal cell line (GN11), high levels are present in a mature GnRH neuronal cell line (GT1-7). Furthermore, overexpression of necdin activates GnRH transcription through cis elements bound by the homeodomain repressor Msx that are located in the enhancer and promoter of the GnRH gene, and knock-down of necdin expression reduces GnRH gene expression. In fact, overexpression of Necdin relieves Msx repression of GnRH transcription through these elements and necdin co-immunoprecipitates with Msx from GnRH neuronal cells, indicating that necdin may activate GnRH gene expression by preventing repression of GnRH gene expression by Msx. Finally, necdin is necessary for generation of the full complement of GnRH neurons during mouse development and extension of GnRH axons to the median eminence. Together, these results indicate that lack of necdin during development likely contributes to the hypogonadotrophic hypogonadal phenotype in individuals with PWS.

Necdin, a Prader–Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development

Science.gov (United States)

Miller, Nichol L.G.; Wevrick, Rachel; Mellon, Pamela L.

2009-01-01

Prader–Willi syndrome (PWS) is a complex genetic disorder characterized by hyperphagia, obesity and hypogonadotrophic hypogonadism, all highly suggestive of hypothalamic dysfunction. The NDN gene, encoding the MAGE family protein, necdin, maps to the PWS chromosome region and is highly expressed in mature hypothalamic neurons. Adult mice lacking necdin have reduced numbers of gonadotropin-releasing hormone (GnRH) neurons, but the mechanism for this reduction is unknown. Herein, we show that, although necdin is not expressed in an immature, migratory GnRH neuronal cell line (GN11), high levels are present in a mature GnRH neuronal cell line (GT1-7). Furthermore, overexpression of necdin activates GnRH transcription through cis elements bound by the homeodomain repressor Msx that are located in the enhancer and promoter of the GnRH gene, and knock-down of necdin expression reduces GnRH gene expression. In fact, overexpression of Necdin relieves Msx repression of GnRH transcription through these elements and necdin co-immunoprecipitates with Msx from GnRH neuronal cells, indicating that necdin may activate GnRH gene expression by preventing repression of GnRH gene expression by Msx. Finally, necdin is necessary for generation of the full complement of GnRH neurons during mouse development and extension of GnRH axons to the median eminence. Together, these results indicate that lack of necdin during development likely contributes to the hypogonadotrophic hypogonadal phenotype in individuals with PWS. PMID:18930956

Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

Science.gov (United States)

Festen, Dederieke A M; Wevers, Maaike; de Weerd, Al W; van den Bossche, Renilde A S; Duivenvoorden, Hugo J; Otten, Barto J; Wit, Jan Maarten; Hokken-Koelega, Anita C S

2007-08-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley Scales of Infant Development were performed in 22 PWS infants, with a median (interquartile range, IQR) age of 1.8 (1.1-3.4) y, and a body mass index SD score (BMISDS) of -0.5 (-1.3 to 1.6). We evaluated psychomotor development in relation to results of polysomnography. Median (IQR) mental and motor development was 73.1% (64.3-79.6%) and 55.2% (46.5-63.1%) of normal children, respectively. All infants had sleep-related breathing disorders, mostly of central origin. The apnea hypopnea index was not associated with psychomotor development. Only four infants had obstructive sleep apnea syndrome (OSAS). They had a significantly delayed mental development of 65.5% (60.0-70.3%) of normal. They had a median BMISDS of 1.4 (0.1-1.6), which tended to be higher than in those without OSAS. Our data indicate that psychomotor development in PWS infants is not related to central sleep-related breathing disorders, but infants with OSAS have more severely delayed mental development, suggesting that PWS infants should be screened for OSAS.

Obesity and Prader-Willi Syndrome Affect Heart Rate Recovery from Dynamic Resistance Exercise in Youth

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Diobel M. Castner

2016-01-01

Full Text Available Following exercise, heart rate decline is initially driven by parasympathetic reactivation and later by sympathetic withdrawal. Obesity delays endurance exercise heart rate recovery (HRR in both children and adults. Young people with Prader-Willi Syndrome (PWS, a congenital cause for obesity, have shown a slower 60-s endurance exercise HRR compared to lean and obese children, suggesting compromised regulation. This study further evaluated effects of obesity and PWS on resistance exercise HRR at 30 and 60 s in children. PWS (8–18 years and lean and obese controls (8–11 years completed a weighted step-up protocol (six sets x 10 reps per leg, separated by one-minute rest, standardized using participant stature and lean body mass. HRR was evaluated by calculated HRR value (HRRV = difference between HR at test termination and 30 (HRRV30 and 60 (HRRV60 s post-exercise. PWS and obese had a smaller HRRV30 than lean (p < 0.01 for both. Additionally, PWS had a smaller HRRV60 than lean and obese (p = 0.01 for both. Obesity appears to delay early parasympathetic reactivation, which occurs within 30 s following resistance exercise. However, the continued HRR delay at 60 s in PWS may be explained by either blunted parasympathetic nervous system reactivation, delayed sympathetic withdrawal and/or poor cardiovascular fitness.

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

Energy Technology Data Exchange (ETDEWEB)

Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

1992-10-01

Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

CALYPTRANTHES TRICONA (MYRTACEAE, NUEVA CITA PARA LA FLORA ARGENTINA

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Sara G. Tressens

1996-01-01

Full Text Available Calyptranthes tricona D. Legrand (Myrtaceae es reportada por primera vez para la Argentina.  Se incluyen una descripción y una ilustración. Se presenta un clave para la identificación de las especies argentinas de Calyptranthes se da. Se discuten algunas observaciones sobre la nomenclatura C.concinna DC.

Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA){sub n} dinucleotide repeat polymorphisms

Energy Technology Data Exchange (ETDEWEB)

Lerer, I.; Meiner, V.; Pashut-Lavon, I.; Abeliovich, D.

1994-08-01

We describe our experience in the molecular diagnosis of 22 patients suspected of Prader-Willi syndrome (PWS) using a DNA probe PW71 (D15S63) which detects a parent-of-origin specific methylated site in the PWS critical region. The cause of the syndrome was determined as deletion or uniparental disomy according to the segregation of (CA){sub n} dinucleotide repeat polymorphisms of the PWS/AS region and more distal markers of chromosome 15. In 10 patients the clinical diagnosis was confirmed by the segregation of (CA){sub n}, probably due to paternal microdeletion in the PWs critical region which did not include the loci D15S97, D15S113, GABRB3, and GABRA5. This case demonstrates the advantage of the DNA probe PW71 in the diagnosis of PWS. 31 refs., 2 figs., 3 tabs.

Cytogenetic and molecular characterization of 57 individuals with the Parder-Willi syndrome

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Butler, M.G.; Forrest, K.B.; Miller, L.K. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States)

1994-09-01

Prader-Willi syndrome (PWS) is characterized by hypotonia, early childhood obesity, mental deficiency, hypogonadism and an interstitial deletion of 15q11q13 of paternal origin in 50-70% of patients. The remaining patients have either submicroscopic deletions, maternal disomy or other anomalies of chromosome 15. We have undertaken cytogenetic and molecular genetic studies of 57 individuals presenting with features consistent with PWS (28 males and 29 females; age range of 3 months to 38 years), 25 with recognizable 15q11q13 deletions (44%), 28 with normal appearing chromosomes (49%), and four patients with other chromosome 15 anomalies (7%). High resolution chromosome analysis and PCR amplification were performed utilizing 17 STRs from 15q11q13 region, quantitative Southern hybridization using seven 15q11q13 probes, and fluorescence in situ hybridization (FISH) using four 15q11q13 probes (4-3R, SNRPN, 3-21, and GABRB3). The cytogenetic deletion was paternal in all PWS families studied but the deletion varied in size in 10 patients. Parental DNA studies from 20 of 28 non-deletion patients showed maternal disomy in 7 patients and biparental inheritance in 13 non-deletion patients. In order to evaluate for submicroscopic deletions, PCR amplification with several loci in the area of the PWS minimal critical region, FISH using SNRPN and quantitative hybridization using a PCR product generated from primers of exons E and H of the SNRPN gene were undertaken on the non-deletion patients. Quantitative hybridization and FISH using SNRPN from 3 of 11 non-deletion patients (excluding maternal disomy cases) showed a submicroscopic deletion. One of these patients also showed a paternal deletion of D15S128 and MN1. We furthur support the use of both cytogenetic and molecular genetic methods for determining the genetic status of PWS patients.

Management of treatment failure in restless legs syndrome (Willis-Ekbom disease).

Science.gov (United States)

Garcia-Borreguero, Diego; Cano-Pumarega, Irene; Marulanda, Rafael

2018-01-09

Dopaminergic drugs have been widely used over the last decades for the treatment of restless legs syndrome (RLS)/Willis-Ekbom disease (WED). While the majority of studies show an initial improvement in symptoms, longer studies and clinical experience show that either treatment efficacy decreases with time, and/or augmentation develops: dopaminergic augmentation has been reported to be the main reason for treatment discontinuation and treatment failure in RLS/WED. The current review discusses the main reasons for treatment failure in RLS/WED and outlines the most recent expert-based strategies to prevent and manage it. The main strategy for preventing augmentation is to consider non-dopaminergic medications such as α2δ ligands for initial RLS/WED treatment; these effective drugs have been shown to have little risk of augmentation. Alternatively, should dopaminergic drugs be elected as initial treatment, then the daily dose should be kept low and not exceed maximum recommended doses, however, it should be kept in mind that even low dose dopaminergics can cause augmentation. Patients with low iron stores should be given appropriate iron supplementation. Daily treatment should start only when symptoms significantly impact quality of life in terms of frequency and severity; while intermittent treatment might be considered in intermediate cases. Treatment of existing augmentation should be initiated, where possible, with the elimination/correction of extrinsic exacerbating factors (iron levels, antidepressants, antihistamines, etc.). In cases of mild augmentation, dopamine agonist therapy can continue by dividing or advancing the dose, or increasing the dose if there are breakthrough nighttime symptoms. Alternatively, the patient can be switched to an α2δ ligand or rotigotine. For severe augmentation, the patient can be switched to an α2δ ligand or rotigotine, noting that rotigotine may produce augmentation at higher doses with long-term use. In more severe cases

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study

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Jeffrey A. Bennett

2017-02-01

Full Text Available Prader-Willi syndrome (PWS, a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2, the Social Communication Questionnaire (SCQ, Social Responsiveness Scale-2 (SRS-2, Social Skills Improvement System-Rating Scales (SSIS-RS, and the Vineland Adaptive Behavioral Scales-II (VABS-II. General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL and eight uniparental disomy (UPD (with a total of 6 female UPD cases. Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS and observational assessment (ADOS-2 was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study.

Science.gov (United States)

Bennett, Jeffrey A; Hodgetts, Sandra; Mackenzie, Michelle L; Haqq, Andrea M; Zwaigenbaum, Lonnie

2017-02-28

Prader-Willi syndrome (PWS), a rare genetic disorder caused by the lack of expression of paternal genes from chromosome 15q11-13, has been investigated for autism spectrum disorder (ASD) symptomatology in various studies. However, previous findings have been variable, and no studies investigating ASD symptomatology in PWS have exclusively studied children. We aimed to characterize social communication functioning and other ASD-related symptoms in children with PWS, and assessed agreement across measures and rates of ASD diagnosis. Measures included the Autism Diagnostic Observation Schedule-2 (ADOS-2), the Social Communication Questionnaire (SCQ), Social Responsiveness Scale-2 (SRS-2), Social Skills Improvement System-Rating Scales (SSIS-RS), and the Vineland Adaptive Behavioral Scales-II (VABS-II). General adaptive and intellectual skills were also assessed. Clinical best estimate (CBE) diagnosis was determined by an experienced developmental pediatrician, based on history and review of all available study measures, and taking into account overall developmental level. Participants included 10 children with PWS, aged 3 to 12 years. Three of the 10 children were male and genetic subtypes were two deletion (DEL) and eight uniparental disomy (UPD) (with a total of 6 female UPD cases). Although 8 of the 10 children exceeded cut-offs on at least one of the ASD assessments, agreement between parent questionnaires (SCQ, SRS-2, SSIS-RS) and observational assessment (ADOS-2) was very poor. None of the children were assigned a CBE diagnosis of ASD, with the caveat that the risk may have been lower because of the predominance of girls in the sample. The lack of agreement between the assessments emphasizes the complexity of interpreting ASD symptom measures in children with PWS.

Muudatustest hooldusravis / Heli Paluste

Index Scriptorium Estoniae

Paluste, Heli

2010-01-01

Alates 1. jaanuarist 2010. a. moodustab hooldusravi voodipäevade hinnast isiku omaosalus 15 % (VV määrusest nr. 49 (19. veebruarist 2009. a.), mis jõustus 1. jaanuaril 2010. a. ja millega hooldusravi rahastamine muutus)

Kevadtiivul Eestisse / Heli Silma

Index Scriptorium Estoniae

Silma, Heli

2000-01-01

Kathleen Caillier'i (s. 1967) näitus "Kevadtiivul" La Galerie Passage'is. Eksponeeritud õrnades toonides lillemaalid, natüürmordid ja maastikud aastatest 1994-2000. Kunstnik on täiendanud töid luuleridadega.

Esiplaanil heli / Harri Slip

Index Scriptorium Estoniae

Slip, Harri

2015-01-01

Kõrvaklapid hinnaga alla 200 €: AKG Y50BT, Audio-Technica, Beyerdynamic Custom Street, Bose SoundTrue around-ear II, Creative Aurvana Gold, Denon AH-MM200, Focal Spirit One S, Grado SR 80e, JBL Everest V300, Klipsch Reference On Ear, Panasonic RP-HD10, Philips SHB8850NC, Sennheiser HD 25, SMS Audio On-Ear Wired Sport, Sony MDR-100AAP

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

Science.gov (United States)

Mejlachowicz, Dan; Nolent, Flora; Maluenda, Jérome; Ranjatoelina-Randrianaivo, Hanitra; Giuliano, Fabienne; Gut, Ivo; Sternberg, Damien; Laquerrière, Annie; Melki, Judith

2015-01-01

Arthrogryposis multiplex congenita (AMC) is characterized by the presence of multiple joint contractures resulting from reduced or absent fetal movement. Here, we report two unrelated families affected by lethal AMC. By genetic mapping and whole-exome sequencing in a multiplex family, a heterozygous truncating MAGEL2 mutation leading to frameshift and a premature stop codon (c.1996delC, p.Gln666Serfs∗36) and inherited from the father was identified in the probands. In another family, a distinct heterozygous truncating mutation leading to frameshift (c.2118delT, p.Leu708Trpfs∗7) and occurring de novo on the paternal allele of MAGEL2 was identified in the affected individual. In both families, RNA analysis identified the mutated paternal MAGEL2 transcripts only in affected individuals. MAGEL2 is one of the paternally expressed genes within the Prader-Willi syndrome (PWS) locus. PWS is associated with, to varying extents, reduced fetal mobility, severe infantile hypotonia, childhood-onset obesity, hypogonadism, and intellectual disability. MAGEL2 mutations have been recently reported in affected individuals with features resembling PWS and called Schaaf-Yang syndrome. Here, we show that paternal MAGEL2 mutations are also responsible for lethal AMC, recapitulating the clinical spectrum of PWS and suggesting that MAGEL2 is a PWS-determining gene. PMID:26365340

A review of chemosensory perceptions, food preferences and food-related behaviours in subjects with Prader-Willi Syndrome.

Science.gov (United States)

Martínez Michel, Lorelei; Haqq, Andrea M; Wismer, Wendy V

2016-04-01

Hyperphagia and obsessive preoccupation with food are hallmark characteristics of Prader-Willi Syndrome (PWS). Although hyperphagia in PWS is linked to hypothalamic dysfunction, the underlying mechanisms behind this problem are poorly understood. Moreover, our understanding of how chemosensory perceptions and food choice/preferences relate to hyperphagia in individuals with PWS is very limited. This narrative review synthesizes studies that assessed chemosensory perceptions, food choices and food-related behaviours in PWS individuals and highlights knowledge gaps in research for further exploration. Twenty seven publications from relevant databases met inclusion criteria and were organized thematically by study technique in the review. Results suggested that PWS individuals have consistent preferences for sweet tastes and in most studies have exhibited a preference for calorie-dense foods over lower calorie foods. No firm conclusions were drawn concerning the chemosensory perceptions of PWS individuals and their influence on food preferences or choices; chemosensation among PWS individuals is an understudied topic. Current evidence suggests that eating behaviour in PWS is a complex phenomenon that involves a dysfunctional satiation and not excessive hunger. Food preferences, choices, and related behaviours and the impact of these on obesity management in those with PWS remain poorly understood and require further study using validated tools and methodologies. Copyright © 2016 Elsevier Ltd. All rights reserved.

O gênero Eugenia L. (Myrtaceae na planície de alagável do Alto Rio Paraná, Estados de Mato Grosso do Sul e Paraná, Brasil The genus Eugenia L. (Myrtaceae on the Upper Paraná River floodplain, Mato Grosso do Sul and Paraná States, Brazil

Directory of Open Access Journals (Sweden)

Mariza Barion Romagnolo

2006-09-01

Full Text Available Foi realizado o levantamento das espécies de Eugenia L. da planície alagável do Alto Rio Paraná, Estados de Mato Grosso do Sul e Paraná (22º40' a 22º55'S e 53º10' a 53º40'W. Esta área localiza-se no domínio da Floresta Estacional Semidecidual e apresenta formações ripárias ao longo do rio Paraná, de suas ilhas e de seus tributários. As espécies registradas foram: Eugenia egensis DC., E. florida DC., E. hyemalis Cambess., E. klappenbachiana Mattos & D. Legrand, E. moraviana O. Berg, E. pyriformis Cambess., E. ramboi D. Legrand, E. repanda O. Berg., E. sulcata Spring. ex Mart. e E. uniflora L. Os meses que apresentaram o maior número de espécies em floração e frutificação foram respectivamente, setembro e novembro. Eugenia florida, E. hyemalis e E. repanda apresentam ampla distribuição na área, enquanto que E. ramboi e E. sulcata foram encontradas somente na margem esquerda do rio Paraná. É fornecida uma chave para a identificação das espécies, acompanhada de ilustrações e descrições das mesmas, além de informações sobre o período de floração, frutificação e distribuição na área estudada.A floristic survey of Eugenia L. species of the Upper Paraná River floodplain in Mato Grosso do Sul and Paraná States, Brazil (22º40'-22º55'S; 53º10'-53º40'W is presented. The study area is covered by Seasonal Semideciduous Forest, with riparian formations along the Paraná River and its islands and tributaries. The following species were identified: E. egensis DC., E. florida DC., E. hyemalis Cambess., E. klappenbachiana Mattos & D. Legrand, E. moraviana O. Berg, E. pyriformis Cambess., E. ramboi D. Legrand, E. repanda O.Berg., E. sulcata Spring. ex Mart., and E. uniflora L. The greatest number of species in flower or fruit was detected in September and November, respectively. Eugenia florida, E. hyemalis and E. repanda are widely distributed in the study area, whereas E. ramboi and E. sulcata were observed only

Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects

Directory of Open Access Journals (Sweden)

Baccalaro Gabriele

2007-05-01

Full Text Available Abstract Background Being severely overweight is a distinctive clinical feature of Prader-Willi Syndrome (PWS. PWS is a complex multisystem disorder, representing the most common form of genetic obesity. The aim of this study was the analysis of the gait pattern of adult subjects with PWS by using three-Dimensional Gait Analysis. The results were compared with those obtained in a group of obese patients and in a group of healthy subjects. Methods Cross-sectional, comparative study: 19 patients with PWS (11 males and 8 females, age: 18–40 years, BMI: 29.3–50.3 kg/m2; 14 obese matched patients (5 males and 9 females, age: 18–40 years, BMI: 34.3–45.2 kg/m2; 20 healthy subjects (10 males and 10 females, age: 21–41 years, BMI: 19.3–25.4 kg/m2. Kinematic and kinetic parameters during walking were assessed by an optoelectronic system and two force platforms. Results PWS adult patients walked slower, had a shorter stride length, a lower cadence and a longer stance phase compared with both matched obese, and healthy subjects. Obese matched patients showed spatio-temporal parameters significantly different from healthy subjects. Furthermore, Range Of Motion (ROM at knee and ankle, and plantaflexor activity of PWS patients were significantly different between obese and healthy subjects. Obese subjects revealed kinematic and kinetic data similar to healthy subjects. Conclusion PWS subjects had a gait pattern significantly different from obese patients. Despite that, both groups had a similar BMI. We suggest that PWS gait abnormalities may be related to abnormalities in the development of motor skills in childhood, due to precocious obesity. A tailored rehabilitation program in early childhood of PWS patients could prevent gait pattern changes.

How Spatial is a Whale? Places and Processes in Zoomusicology / Dario Martinelli

Index Scriptorium Estoniae

Martinelli, Dario

2008-01-01

Zoomusikoloogiast, mis uurib loomade muusikalist tegevust. Loomade muusikataoliste häälitsuste uurimisest. Heli kasutamisest loomadevahelises kommunikatsioonis, muusikast kui imitatsiooni vormist. Muusikast kui sotsiaalsest faktist

Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.

Science.gov (United States)

Ghergan, Adelina; Coupaye, Muriel; Leu-Semenescu, Smaranda; Attali, Valérie; Oppert, Jean-Michel; Arnulf, Isabelle; Poitou, Christine; Redolfi, Stefania

2017-12-01

Excessive sleepiness is a common symptom in Prader-Willi syndrome (PWS), and it negatively impacts the quality of life. Obstructive sleep apnea and narcolepsy phenotypes have been reported in PWS. We characterized sleep disorders in a large cohort of adults with PWS. All consecutive patients with genetically confirmed PWS unselected for sleep-related symptoms, underwent a clinical interview, polysomnography, and multiple sleep latency tests (MSLT, n = 60), followed by long-term (24 hours) polysomnography (n = 22/60). Among 60 adults evaluated (57% female, aged 25 ± 10 years, body mass index: 39 ± 12 kg/m2), 67% reported excessive sleepiness. According to the sleep study results, 43% had a previously unrecognized hypersomnia disorder, 15% had an isolated sleep breathing disorder, 12% had combined hypersomnia disorder and untreated breathing sleep disorder, and only 30% had normal sleep. Isolated hypersomnia disorder included narcolepsy in 35% (type 1, n = 1, and type 2, n = 8), hypersomnia in 12% (total sleep time >11 hours, n = 2, and MSLT sleep onset in REM periods and MSLT >8 minutes, n = 10, and 8 minutes Sleep breathing disorders, isolated and combined, included obstructive sleep apnea (n = 14, already treated in seven), sleep hypoxemia (n = 1) and previously undiagnosed hypoventilation (n = 5). Modafinil was taken by 16 patients (well tolerated in 10), resulting in improved sleepiness over a mean 5-year follow-up period. Sleepiness affects more than half of adult patients with PWS, with a variety of hypersomnia disorder (narcolepsy, hypersomnia, and borderline phenotypes) and breathing sleep disorders. Earlier diagnosis and management of sleep disorders may improve sleepiness, cognition, and behavior in these patients. © Sleep Research Society 2017. Published by Oxford University Press [on behalf of the Sleep Research Society]. All rights reserved. For permissions, please email: journals.permissions@oup.com

H.S.H. Prince Radu of Hohenzollern-Veringen, Special Representative of the Romanian Government for Integration, Co-operation and Sustainable Development

CERN Multimedia

Maximilien Brice

2002-01-01

H.S.H. Prince Radu of Hohenzollern-Veringen, Special Representative of the Romanian Government for Integration, Co-operation and Sustainable Development (third from left) with (left to right) Florian Ciolacu (Romanian Mission in Geneva), Cornel Comsa (personal adviser to the Prince), Sorin Ilie (CERN), Calin Alexa (ATLAS), Iosif Legrand (Caltech/CMS), Mihaela Gheata (ALICE), Andrei Gheata (ALICE), and Sorin Zgura (ALICE).

Näitused / Katrin Kurik

Index Scriptorium Estoniae

Kurik, Katrin

1998-01-01

Linnagalerii Tallinnas: Anna Pauli tekstiilid ja Andras Huberi skulptuurid (Ungari); Kullo lastegalerii: Heli Männi ja Tondiraba keskkooli kunstiklasside õpilaste "Veneetsia maskid"; Tammsaare majamuuseum: Kersti Karu keraamika

Photoluminescence and reflectivity studies of high energy light ions irradiated polymethyl methacrylate films

Science.gov (United States)

Bharti, Madhu Lata; Singh, Fouran; Ramola, R. C.; Joshi, Veena

2017-11-01

The self-standing films of non-conducting polymethyl methacrylate (PMMA) were irradiated in vacuum using high energy light ions (HELIs) of 50 MeV Lithium (Li+3) and 80 MeV Carbon (C+5) at various ion dose to induce the optical changes in the films. Upon HELI irradiation, films exhibit a significant enhancement in optical reflectivity at the highest dose. Interestingly, the photoluminescence (PL) emission band with green light at (514.5 nm) shows a noticeable increase in the intensity with increasing ion dose for both ions. However, the rate of increase in PL intensity is different for both HELI and can be correlated with the linear energy transfer by these ions in the films. Origin of PL is attributed to the formation of carbon cluster and hydrogenated amorphous carbon in the polymer films. HAC clusters act as PL active centres with optical reflectivity. Most of the harmful radiation like UV are absorbed by the material and is becoming opaque after irradiation and this PL active material are useful in fabrication of optoelectronic devices, UV-filter, back-lit components in liquid crystal display systems, micro-components for integrate optical circuits, diffractive elements, advanced materials and are also applicable to the post irradiation laser treatment by means of ion irradiation.

Variations and Anomalies of the circle of Willis in Korean: Cerebral digital subtraction angiogram studies in 200 case

International Nuclear Information System (INIS)

Lee, Ouk; Chung, Gyoo Sik; Kim, So Sun; Huh, Jin Do; Kim, Ho Joon; Joh, Young Duk

1989-01-01

In order to evaluate the variations of the circle of Willis in Korean population, digital subtraction angiograms in 200 cases were retrospectively analyzed. There was non-visualization of the anterior communicating artery and the posterior communicating artery in 41 cases and this was the most common type 4 vessel cerebral angiogram (20.5%). Unilateral or bilateral non-visualization of the posterior communicating artery was noted in 40 case (20%). The fetal origin of the posterior cerebral artery from the internal carotid artery was seen in 22 cases (11%). In 20 out of 22 cases, there were non-visualization of either the anterior communicating or posterior communicating artery. Visualization of the anterior communicating artery was noted in 102 cases (51%) and of the posterior communicating artery in 87 cases (43.5%). Hypoplasia of the anterior cerebral artery was noted in 24 cases (12%). Non- visualization of the anterior communicating artery or unilateral posterior communicating artery is noted in 16 cases (8%). Non- visualization of the anterior communicating artery was seen in 14 cases (7%). The most common type in appearance of the basilar artery variation was straight type (Type 1: 51%) and the bifurcation of the basilar artery was most commonly located above the posterior clinoid process of the dorsum sellae (58%) on vertebral angiogram

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.

Science.gov (United States)

Wijesuriya, Tishani Methsala; De Ceuninck, Leentje; Masschaele, Delphine; Sanderson, Matthea R; Carias, Karin Vanessa; Tavernier, Jan; Wevrick, Rachel

2017-11-01

In Prader-Willi syndrome (PWS), obesity is caused by the disruption of appetite-controlling pathways in the brain. Two PWS candidate genes encode MAGEL2 and necdin, related melanoma antigen proteins that assemble into ubiquitination complexes. Mice lacking Magel2 are obese and lack leptin sensitivity in hypothalamic pro-opiomelanocortin neurons, suggesting dysregulation of leptin receptor (LepR) activity. Hypothalamus from Magel2-null mice had less LepR and altered levels of ubiquitin pathway proteins that regulate LepR processing (Rnf41, Usp8, and Stam1). MAGEL2 increased the cell surface abundance of LepR and decreased their degradation. LepR interacts with necdin, which interacts with MAGEL2, which complexes with RNF41 and USP8. Mutations in the MAGE homology domain of MAGEL2 suppress RNF41 stabilization and prevent the MAGEL2-mediated increase of cell surface LepR. Thus, MAGEL2 and necdin together control LepR sorting and degradation through a dynamic ubiquitin-dependent pathway. Loss of MAGEL2 and necdin may uncouple LepR from ubiquitination pathways, providing a cellular mechanism for obesity in PWS. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Kilplased saavad eesti filmi juubeliaastaks kilbi läikima / Erik Müürsepp

Index Scriptorium Estoniae

Müürsepp, Erik

2010-01-01

Tallinnfilm plaanib 2010. aasta jooksul juubeliprogrammi "Eesti film 100" raames digiteerida ning taastada pildi ja heli kolmel Rein Raamatu joonisfilmil: "Kilplased" (1974), "Suur Tõll" (1980) ja "Põrgu" (1983)

Growth hormone receptor (GHR) gene polymorphism and scoliosis in Prader-Willi syndrome.

Science.gov (United States)

Butler, Merlin G; Hossain, Waheeda; Hassan, Maaz; Manzardo, Ann M

2018-04-01

A growth hormone receptor (GHR) gene polymorphism impacts sensitivity to endogenous and exogenous growth hormone (GH) to moderate growth and development. Increased sensitivity may accelerate spinal growth and contribute to scoliosis, particularly in GH-deficient and treated populations such as Prader-Willi syndrome (PWS). Therefore, we examined the relationship between GHR genotype and scoliosis (case and control) in PWS cohorts. We utilized a case-control design in a study of 73 subjects (34M; 39F) with genetically confirmed PWS in 32 individuals previously diagnosed with moderate to severe scoliosis (mean age=16.9±10.2years; age range of 1 to 41years) and 41 adults with no evidence of scoliosis (mean age=30.8±9.7years; age range of 18 to 56years). The GHR gene polymorphism was determined using PCR specific primers to capture the two recognized GHR gene fragment sizes [i.e., full length (fl) or exon 3 deletions (d3)]. Twenty-three (72%) of the 32 case subjects with scoliosis required surgical correction with an approximately equal balance for gender and PWS genetic subtype among cases and 41 control subjects without scoliosis. The GHR d3/d3 genotype was identified in N=2 of 8 (25%) cases with scoliosis and the d3/fl genotype was identified in N=11 of 25 (44%) cases with scoliosis but the distribution difference did not statistically differ. The GHR fl/fl genotype was correlated with a significantly faster rate and heavier weight gain among case subjects. Our examination of demographic and genetic markers associated with scoliosis and surgical repair in PWS found no evidence to support differences in gender, PWS genetic subtype or GHR d3 allele distributions among the case vs control groups. Those with fl/fl alleles were heavier than those with d3/d3 or d3/fl genotypes and warrant further study with a larger sample size and possibly to include other vulnerable populations requiring growth hormone treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

PET scan perfusion imaging in the Prader-Willi syndrome: new insights into the psychiatric and social disturbances

International Nuclear Information System (INIS)

Mantoulan, C.; Payoux, P.; Mantoulan, C.; Diene, G.; Glattard, M.; Molinas, C.; Tauber, M.; Payoux, P.; Sevely, A.; Glattard, M.; Roge, B.; Molinas, C.; Tauber, M.; Zilbovicius, M.; Celsis, P.; Celsis, P.

2011-01-01

The Prader-Willi syndrome (PWS), a rare multisystem genetic disease, leads to severe disabilities, such as morbid obesity, endocrine dysfunctions, psychiatric disorders, and social disturbances. We explored the whole brain of patients with PWS to detect abnormalities that might explain the behavioral and social disturbances, as well as the psychiatric disorders of these patients. Nine patients with PWS (six males, three females; mean age 16.4 years) underwent a positron emission tomography (PET) scan with H(2)(15)O as a tracer to measure regional cerebral blood flow (rCBF). The images were compared with those acquired from nine controls (six males, three females; mean age 21.2 years). A morphologic magnetic resonance imaging (MRI) was also performed in PWS patients, and their cognitive and behavioral skills were assessed with Wechsler Intelligence Scale for Children III and the Child Behavior Check List (CBCL). The MRI images showed no evident anatomic abnormalities, whereas PET scans revealed hypo-perfused brain regions in PWS patients compared with controls, particularly in the anterior cingulum and superior temporal regions. We observed a significant relationship (P≤0.05) between rCBF in the hypo-perfused regions and CBCL scores. The functional consequences of these perfusion abnormalities in specific brain regions might explain the behavioral and social problems observed in these individuals. (authors)

High unacylated ghrelin levels support the concept of anorexia in infants with prader-willi syndrome.

Science.gov (United States)

Beauloye, Veronique; Diene, Gwenaelle; Kuppens, Renske; Zech, Francis; Winandy, Coralie; Molinas, Catherine; Faye, Sandy; Kieffer, Isabelle; Beckers, Dominique; Nergårdh, Ricard; Hauffa, Berthold; Derycke, Christine; Delhanty, Patrick; Hokken-Koelega, Anita; Tauber, Maithé

2016-05-04

Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental disorder with different nutritional phases from suckling deficit with failure to thrive to early onset of obesity. Hyperghrelinemia has been described in PWS long before the development of obesity. Ghrelin is found in both acylated (AG) and unacylated (UAG) forms in the circulation. In contrast to AG, UAG has been shown to inhibit food intake and to be elevated in anorexia nervosa. The present project is aiming to determine the underlying mechanisms driving the different nutritional phases in PWS. Measurement of at least 4 h-fasting plasma acylated and unacylated ghrelin in 37 infants with a genetic diagnosis of PWS aged from 1 month to 4 years and in 100 age-matched controls without endocrine disorder recruited prior to minor surgery. One blood sampling was analysed for each patient/control and clinical data were recorded. Eleven PWS infants underwent repetitive blood samples at 3 or 6-month intervals during routine visits. In infants with PWS, AG is not elevated (p = 0.45), UAG is significantly higher (p = 0.0044; confidence interval 1.06;1.33) resulting in a low AG/UAG ratio (p = 0.0056; confidence interval 0.76;0.95) compared to controls. Unlike children and adults with PWS that have high AG and AG/UAG ratio, infants with PWS have elevated UAG that supports the concept of anorexia in the early phases of the disease. The change in AG/UAG ratio possibly drives the switch from failure to thrive to obesity. NCT02529085 .

Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings.

Science.gov (United States)

Johnson, Lisa; Manzardo, Ann M; Miller, Jennifer L; Driscoll, Daniel J; Butler, Merlin G

2016-03-01

Prader-Willi syndrome (PWS) is a rare genetic disorder associated with distinct abnormal behaviors including hyperphagia, profound social deficits, and obsessive-compulsive tendencies. PWS males showed reduced oxytocin receptor (OTR) gene expression and density in the hypothalamic paraventricular nucleus that may play a role in PWS psychopathology. Oxytocin is an anorexigenic neuropeptide similar to vasopressin that is associated with social cognition and obsessive-compulsive behavior. To evaluate oxytocin biology in PWS, we examined overnight fasting plasma oxytocin levels in 23 children with PWS (mean ± SD age: 8.2 ± 2.0 year) having genetic confirmation and 18 age matched healthy unrelated siblings without PWS (mean ± SD age: 8.2 ± 2.3 year) and a similar gender ratio under the same clinical assessments, specimen processing and laboratory conditions. Multiplex immune assays were carried out using the Milliplex Human Neuropeptide Magnetic panel and the Luminex system. Natural log-transformed oxytocin levels were analyzed using general linear model adjusting for diagnosis, gender, age and body mass index (BMI). Oxytocin plasma levels were significantly elevated in children with PWS (168 ± 121 pg/ml) compared with unrelated and unaffected siblings without the diagnosis of PWS (64.8 ± 83.8 pg/ml, F = 8.8, P model fit R(2) = 0.33 (P < 0.01). The symptoms of hyperphagia, anxiety and repetitive behaviors classically seen in PWS may be related to the disruption of oxytocin responsivity or feedback in the hypothalamic paraventricular nucleus possibly influencing vasopressin signaling. Further study is needed to characterize oxytocin function in PWS. © 2015 Wiley Periodicals, Inc.

Healthcare transition in persons with intellectual disabilities: general issues, the Maastricht model, and Prader-Willi syndrome.

Science.gov (United States)

Schrander-Stumpel, Constance T R M; Sinnema, Margje; van den Hout, Lieke; Maaskant, Marian A; van Schrojenstein Lantman-de Valk, Henny M J; Wagemans, Annemieke; Schrander, Jaap J P; Curfs, Leopold M G

2007-08-15

In current healthcare, transitional healthcare is a very important and timely issue. Thanks to the major advances made in medical care and technology, many children with childhood onset diseases and/or genetic syndromes survive to adulthood. These children are at risk of not being provided with adequate healthcare as they reach adulthood. Healthcare transition is an essential part of healthcare provision, referred to as the shift from one type of healthcare to another. In Maastricht, we developed a transition/out clinic led by a medical doctor specialized in persons with intellectual disability (ID), together with a clinical geneticist. We aim to coordinate healthcare issues based on guidelines if available. Also questions concerning living, daily activities, relations, sexuality, and sterilization can be discussed. The aging process of persons with ID has been a topic of interest in recent years. Little is known about the aging process of people with specific syndromes, except for persons with Down syndrome. We present some data of a recent questionnaire study in persons with Prader-Willi syndrome. In only 50% in persons with a clinical diagnosis genetic test results could be reported. The majority of persons were obese. Diabetes mellitus, hypertension, skin problems, sleep apnea, and hormonal problems like osteoporosis and hypothyroidism were common. Psychiatric problems were frequent, especially in the persons with uniparental disomy. Osteoporosis and sleep apnoea seem to be underestimated. Further longitudinal research is necessary for a better understanding of the aging process in PWS. (c) 2007 Wiley-Liss, Inc.

A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome

Science.gov (United States)

Miller, J. L.; Lynn, C. H.; Shuster, J.; Driscoll, D. J.

2014-01-01

Background Children with Prader-Willi syndrome (PWS) have a predictable pattern of weight gain, with obesity beginning in early childhood and worsening as they get older and hyperphagia increases. Data on the most effective dietary modifications are scant and primarily anecdotal. As part of a longitudinal study investigating the natural history of PWS, we evaluated the effect of a well-balanced, energy-restricted diet on body composition and weight in young children with PWS. Methods Sixty-three children, aged 2–10 years, with genetically proven PWS participated in the present study. These children had measurements of body composition by dual-energy X-ray absorptiometry and resting energy expenditure (REE), as well as a 3-day diet history analysis both before and after intervention. Energy calculations were based on the individual's REE, with the recommendation that the macronutrients of the diet consist of 30% fat, 45% carbohydrates and 25% protein, with at least 20 g of fibre per day. Results Thirty-three families adhered to our dietary recommendations for both energy intake and macronutrient distribution. Those 33 children had lower body fat (19.8% versus 41.9%; P diet. Those who followed our recommendations also had a lower respiratory quotient (0.84 versus 0.95; P = 0.002). Conclusions Our recommendation for an energy-restricted diet with a well-balanced macronutrient composition and fibre intake improves both weight and body composition in children with PWS compared to a simple energy-restricted diet. PMID:23078343

Altered functional resting-state hypothalamic connectivity and abnormal pituitary morphology in children with Prader-Willi syndrome.

Science.gov (United States)

Lukoshe, Akvile; van Dijk, Suzanne E; van den Bosch, Gerbrich E; van der Lugt, Aad; White, Tonya; Hokken-Koelega, Anita C

2017-01-01

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS. Twenty-seven children with PWS (13 DEL, 14 mUPD) and 28 typically developing children were included. Manual segmentations by a blinded investigator were performed to determine the volumes of the hypothalamus, mammillary bodies, and pituitary gland. In addition, brain-wide functional connectivity analysis was performed using the obtained masks of the hypothalamus. Children with PWS showed altered resting state functional connectivity between hypothalamus and right and left lateral occipital complex, compared to healthy controls. In addition, children with PWS had on average a 50% smaller pituitary volume, an irregular shape of the pituitary, and a longer pituitary stalk. Pituitary volume did not increase in volume during puberty in PWS. No volumetric differences in the hypothalamus and mammillary bodies were found. In all subjects, the posterior pituitary bright spot was observed. We report altered functional hypothalamic connectivity with lateral occipital complexes in both hemispheres, which are implicated in response to food and reward system, and absence of connectivity might therefore at least partially contribute to the preoccupation with food in PWS.

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

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Saitoh, S.; Cassidy, S.B.; Conroy, J.M. [Univ. of Hospitals of Cleveland, OH (United States)] [and others

1997-01-20

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13, and thus appear to have a mutation in the imprinting process for this region. Here we describe detailed clinical findings of five AS imprinting mutation patients (three families) and two PWS imprinting mutation patients (one new family). All these patients have essentially the classical clinical phenotype for the respective syndrome, except that the incidence of microcephaly is lower in imprinting mutation AS patients than in deletion AS patients. Furthermore, imprinting mutation AS and PWS patients do not typically have hypopigmentation, which is commonly found in patients with the usual large deletion. Molecular diagnosis of these cases is initially achieved by DNA methylation analyses of the DN34/ZNF127, PW71 (D15S63), and SNRPN loci. The latter two probes have clear advantages in the simple molecular diagnostic analysis of PWS and AS patients with an imprinting mutation, as has been found for typical deletion or UPD PWS and AS cases. With the recent finding of inherited microdeletions in PWS and AS imprinting mutation families, our studies define a new class of these two syndromes. The clinical and molecular identification of these PWS and AS patients has important genetic counseling consequences. 49 refs., 4 figs., 3 tabs.

Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome.

Directory of Open Access Journals (Sweden)

Harry J Hirsch

Full Text Available Hyperphagia, low resting energy expenditure, and abnormal body composition contribute to severe obesity in Prader Willi syndrome (PWS. Irisin, a circulating myokine, stimulates "browning" of white adipose tissue resulting in increased energy expenditure and improved insulin sensitivity. Irisin has not been previously studied in PWS.Compare plasma and salivary irisin in PWS adults and normal controls. Examine the relationship of irisin to insulin sensitivity and plasma lipids.A fasting blood sample for glucose, lipids, insulin, leptin, adinopectin, and irisin was obtained from 22 PWS adults and 54 healthy BMI-matched volunteers. Saliva was collected for irisin assay in PWS and controls.Fasting glucose (77 ± 9 vs 83 ± 7 mg/dl, p = 0.004, insulin (4.1 ± 2.0 vs 7.9 ± 4.7 μU/ml, p<0.001, and triglycerides (74 ± 34 vs 109 ± 71 mg/dl, p = 0.007 were lower in PWS than in controls. Insulin resistance (HOMA-IR was lower (0.79 ± 0.041 vs 1.63 ± 1.02, p<0.001 and insulin sensitivity (QUICKI was higher (0.41 ± 0.04 vs 0.36 ± 0.03, p<0.001 in PWS. Plasma irisin was similar in both groups, but salivary irisin (64.5 ± 52.0 vs 33.0 ± 12.1ng/ml, plasma leptin (33.5 ± 24.2 vs 19.7 ± 19.3 ng/ml and plasma adinopectin (13.0 ± 10.8 vs 7.6 ± 4.5μg/ml were significantly greater in PWS (p<0.001. In PWS, plasma irisin showed positive Pearson correlations with total cholesterol (r = 0.58, p = 0.005, LDL-cholesterol (r = 0.59, p = 0.004, and leptin (r = 0.43, p = 0.045. Salivary irisin correlated negatively with HDL-cholesterol (r = -0.50, p = 0.043 and positively with LDL-cholesterol (r = 0.51, p = 0.037 and triglycerides (r = 0.50, p = 0.041.Salivary irisin was markedly elevated in PWS although plasma irisin was similar to levels in controls. Significant associations with plasma lipids suggest that irisin may contribute to the metabolic phenotype of PWS.

Eredamaid helielamusi Helsingi "Avanto'lt" / Rael Artel

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Artel, Rael, 1980-

2003-01-01

Helsingi meediakunsti festival 21.-24. 2002. Põhitähelepanu oli koondunud helile. Franz Pomassli heliinstallatsioonist, Briti loomingulise kollektiivi Semiconductor heli- ja pildiperformance'itest, inglise kunstniku Lis Rhodesi videotest jm.

Hamletid Krahli proovisaalis - remixed and revisited / Margit Tõnson

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Tõnson, Margit, 1978-

2006-01-01

"Hamletid" William Shakespeare'i ainetel Von Krahli Teatri väikeses saalis. Kontseptsioon, lavastus, koreograafia, kujundus, valgus Sasha Pepeljajev, video, heli, elektroonika Taavet Jansen. Esitaja Juhan Ulfsak. Esietendus 3. okt

Raznõje, no ravnõje / Jevgenija Zelenskaja

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Zelenskaja, Jevgenija

2007-01-01

Jõhvis toimus seminar "Tolerantsus rahvusvahelistes suhetes", kus esinesid USA teadlane Jeremy Gunn, rahvastikuministri nõunik Eva-Maria Asari, Viru kolledzhi esindaja Sergei Tshekrõzhov, Ida-Viru integratsioonikeskuse esindaja Heli Fershel

Sourcebook of Temporal Factors Affecting Information Transfer from Visual Displays

Science.gov (United States)

1981-06-01

moving object and take appropriate action? Obviously, these behaviors are affected not only by motion perception but by memory and motor control as...Perf., 1975, 1, 383394. Layton, B. Perceptual Noise and Aging. Psych. Bull., 1975, 82, 875- 883. LeGrand, Y. Light, colour and vision. Ch. 13, time...ligkeit intermittierender lichtreize von der flimmerfreque (Brucke-effekt,,, brightness enchancement ): Unt!rsuchungen bei verschiedener leuchtdichte

Killustatud toetusvõimalused panevad ettevõtja eri asutuste vahet jooksma / Merike Lees

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Lees, Merike, 1976-

2004-01-01

Ettevõtluse Arendamise Sihtasutus, Põllumajanduse Registrite ja Informatsiooni Amet, konsultatsioonifirma BDA Estonia ning maakondlikud arenduskeskused jagavad toetusvõimaluste kohta erinevat informatsiooni. Kommenteerivad Kadri Ugand, Piret Arusaar, Heli Raamets ja Tiina Tarma

Valitsus peaks noortebändi Bedwetters autasustama

Index Scriptorium Estoniae

2007-01-01

Rahvaliidu noored peavad vajalikuks, et valitsus autasustaks esimese Eesti bändina MTV Europe Music Awards 2007 galal Saksamaal Münchenis auhinnakategoorias "Euroopa uue heli" tiitli võitnud pop-punkansamblit Bedwetters

Siim Nestor soovitab : HUH : energiaöö. Bad Apples / Siim Nestor

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Nestor, Siim, 1974-

2006-01-01

Festivali "Hea Uus Heli" hooaja lõpetamisest 15. dets. Von Krahlis Tallinnas. Ansambli Bad Apples heliplaadi "When Colours Become Day and Night" esitlusest 19. dets. Tallinnas teatri NO99 majas Jazziklubis

Lähiminevik Kinomajas

Index Scriptorium Estoniae

2003-01-01

Homme näidatakse Kinomajas portreefilmi filmimees Semjon Shkolnikovist "Igaviku seisukohalt" : stsenarist Igor Ruus : režissöörid Igor Ruus ja Heli Speek : produtsent Igor Ruus : Estonia Film 2002

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment

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Dong-Kyu Jin

2012-07-01

Full Text Available Prader-Willi syndrome (PWS is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR, gamete complementation (GC, monosomy rescue (MR, and postfertilization mitotic nondisjunction (Mit. Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

Targeting the endocannabinoid/CB1 receptor system for treating obesity in Prader–Willi syndrome

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Ibrahim Knani

2016-12-01

Full Text Available Objective: Extreme obesity is a core phenotypic feature of Prader–Willi syndrome (PWS. Among numerous metabolic regulators, the endocannabinoid (eCB system is critically involved in controlling feeding, body weight, and energy metabolism, and a globally acting cannabinoid-1 receptor (CB1R blockade reverses obesity both in animals and humans. The first-in-class CB1R antagonist rimonabant proved effective in inducing weight loss in adults with PWS. However, it is no longer available for clinical use because of its centrally mediated, neuropsychiatric, adverse effects. Methods: We studied eCB ‘tone’ in individuals with PWS and in the Magel2-null mouse model that recapitulates the major metabolic phenotypes of PWS and determined the efficacy of a peripherally restricted CB1R antagonist, JD5037 in treating obesity in these mice. Results: Individuals with PWS had elevated circulating levels of 2-arachidonoylglycerol and its endogenous precursor and breakdown ligand, arachidonic acid. Increased hypothalamic eCB ‘tone’, manifested by increased eCBs and upregulated CB1R, was associated with increased fat mass, reduced energy expenditure, and decreased voluntary activity in Magel2-null mice. Daily chronic treatment of obese Magel2-null mice and their littermate wild-type controls with JD5037 (3 mg/kg/d for 28 days reduced body weight, reversed hyperphagia, and improved metabolic parameters related to their obese phenotype. Conclusions: Dysregulation of the eCB/CB1R system may contribute to hyperphagia and obesity in Magel2-null mice and in individuals with PWS. Our results demonstrate that treatment with peripherally restricted CB1R antagonists may be an effective strategy for the management of severe obesity in PWS. Author Video: Author Video Watch what authors say about their articles Keywords: Endocannabinoids, PWS, Magel2, Peripheral CB1 blockade, Metabolic syndrome

Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome.

Science.gov (United States)

Lukoshe, Akvile; White, Tonya; Schmidt, Marcus N; van der Lugt, Aad; Hokken-Koelega, Anita C

2013-10-22

Prader-Willi syndrome (PWS) is a complex neurogenetic disorder with symptoms that indicate not only hypothalamic, but also a global, central nervous system (CNS) dysfunction. However, little is known about developmental differences in brain structure in children with PWS. Thus, our aim was to investigate global brain morphology in children with PWS, including the comparison between different genetic subtypes of PWS. In addition, we performed exploratory cortical and subcortical focal analyses. High resolution structural magnetic resonance images were acquired in 20 children with genetically confirmed PWS (11 children carrying a deletion (DEL), 9 children with maternal uniparental disomy (mUPD)), and compared with 11 age- and gender-matched typically developing siblings as controls. Brain morphology measures were obtained using the FreeSurfer software suite. Both children with DEL and mUPD showed smaller brainstem volume, and a trend towards smaller cortical surface area and white matter volume. Children with mUPD had enlarged lateral ventricles and larger cortical cerebrospinal fluid (CSF) volume. Further, a trend towards increased cortical thickness was found in children with mUPD. Children with DEL had a smaller cerebellum, and smaller cortical and subcortical grey matter volumes. Focal analyses revealed smaller white matter volumes in left superior and bilateral inferior frontal gyri, right cingulate cortex, and bilateral precuneus areas associated with the default mode network (DMN) in children with mUPD. Children with PWS show signs of impaired brain growth. Those with mUPD show signs of early brain atrophy. In contrast, children with DEL show signs of fundamentally arrested, although not deviant brain development and presented few signs of cortical atrophy. Our results of global brain measurements suggest divergent neurodevelopmental patterns in children with DEL and mUPD.

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

Science.gov (United States)

Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia E

2016-01-01

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. High-resolution SNP microarray analysis identified an atypical PWS type I deletion in chromosome 15 involving the proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11q13 region, and GABRA5, GABRG3, and OCA2 genes were intact. No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. © 2016 S. Karger AG, Basel.

Clinical-neurologic, cytogenetic and molecular aspects of the Prader-Willi and Angelman Syndromes Aspectos clínico-neurológicos, citogenéticos e moleculares das síndromes de Prader-Willi e Angelman

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João M. de Pina-Neto

1997-06-01

Full Text Available The Prader-Willi syndrome (PWS and the Angelman syndrome (AS are human neurogenetic disorders involving the imprinting mechanism, at the 15q11-13 chromosome region. The predominant genetic defects in PW are 15q 11-13 deletions of paternal origin and maternal chromosome 15 uniparental disomy. In contrast, maternal deletions and paternal chromosome 15 uniparental disomy are associated with a different neurogenetic disorder, the AS. In both disorders, these mutations are associated with parent-of-origin specific methylation at several 15q 11-13 loci. We studied 5 patients suspect of PWS and 4 patients suspect of AS who were referred to the Medical Genetics Unit at the University Hospital of Medical School from Ribeirão Preto. Our objective was to establish the correct clinical and etiological diagnosis in these cases. We used conventional cytogenetics, methylation analysis with the probe KB 17 (CpG island of the SNRPN gene by Southern blotting after digestion with the Xba I and Not I restriction enzymes. We studied in patients and their parents the segregation of the (CAn repeats polymorphisms by PCR, using the primers 196 and IR4-3R. All the patients had normal conventional cytogenetical analysis. We confirmed 3 cases of PWS: one by de novo deletion, one by maternal chromosome 15 uniparental disomy and one case with no defined cause determined by the used primers. We confirmed 2 cases of AS, caused by de novo deletion at the 15q 11-13 region, and one case with normal molecular analysis but with strong clinical characteristics.A síndrome de Prader-Willi (SPW e a síndrome de Angelman (SA são doenças neurogenéticas consideradas como exemplos do fenômeno de imprinting em seres humanos, estando relacionadas com alterações envolvendo a região cromossômica 15q11-13. As alterações genéticas predominantes na SPW são deleções na região 15q 11-13 de origem paterna e dissomia uniparental materna. Na SA encontra-se deleções na região 15q

Collateral circulation via the circle of Willis in patients with carotid artery steno-occlusive disease: evaluation on 3-T 4D MRA using arterial spin labelling

International Nuclear Information System (INIS)

Iryo, Yasuhiko; Hirai, Toshinori; Nakamura, Masanobu; Inoue, Yasuteru; Watanabe, Masaki; Ando, Yukio; Azuma, Minako; Nishimura, Shinichiro; Shigematsu, Yoshinori; Kitajima, Mika; Yamashita, Yasuyuki

2015-01-01

Aim: To evaluate whether 3-T four-dimensional (4D) arterial spin-labelling (ASL) -based magnetic resonance angiography (MRA) is useful for assessing the collateral circulation via the circle of Willis in patients with carotid artery steno-occlusive disease. Materials and methods: Institutional review board approval and prior written informed consent from all patients were obtained. The inclusion criteria were fulfilled by 13 patients with carotid artery steno-occlusive disease. All underwent 4D-ASL MRA at 3 T and digital subtraction angiography (DSA). The flow-sensitive alternating inversion recovery (FAIR) preparation scheme with look-locker sampling was used for spin labeling. At 300-ms intervals seven dynamic scans were obtained with a spatial resolution of 0.5×0.5×0.6 mm 3 . The collateral flow via the circle of Willis was read on 4D-ASL MRA and DSA images by two sets of two independent readers each. κ statistics were used to assess interobserver and intermodality agreement. Results: On DSA, collateral flow via the anterior communicating artery (AcomA) was observed in six patients, via the posterior communicating artery (PcomA) in four patients, and via both the AcomA and PcomA in three patients. With respect to the qualitative evaluation of 4D-ASL MRA images, interobserver agreement was excellent for all items (κ=1). 4D-ASL MRA and DSA consensus readings agreed on the type of collateral flow pattern in 10 of the 13 patients (77%). Intermodality agreement was good (κ=0.606; 95% confidence interval (CI): 0.215–0.997). Conclusion: 3 T 4D-ASL MRA may be a useful tool for the evaluation of the collateral circulation in patients with carotid artery steno-occlusive disease. -- Highlights: •3-T 4D-ASL MRA has high spatial and temporal resolution. •There is no need for the use of contrast agents in this technique. •4D-ASL MRA is useful for assessing the collateral flow associated with carotid artery stenosis. •Intermodality agreement between 4D

Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder.

Science.gov (United States)

Song, Dae Kwang; Sawada, Masayuki; Yokota, Shingo; Kuroda, Kenji; Uenishi, Hiroyuki; Kanazawa, Tetsufumi; Ogata, Hiroyuki; Ihara, Hiroshi; Nagai, Toshiro; Shimoda, Kazutaka

2015-01-01

Prader-Willi syndrome (PWS) is a neuro-genetic disorder caused by the absence/loss of expression of one or more paternally expressed genes on chromosome 15 (q11-13). In this study, a comparative analysis of intelligence level and autistic traits was conducted between children with PWS (n = 30; 18 males, 12 females; age = 10.6 ± 2.8 years) and those with Asperger disorder (AD; n = 31; 24 males, 7 females; age = 10.5 ± 3.1 years). The children were compared by age group: lower elementary school age (6-8 years), upper elementary school age (9-12 years), and middle school age (13-15 years). As results, the intelligence levels of children with PWS were significantly lower than those with AD across all age groups. Autistic traits, assessed using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), revealed that among elementary school age children, those with PWS had less prominent autistic traits than those with AD, however, among middle school age children, those with PWS and AD showed similar prominence. An analysis of the PARS subscale scores by age group showed that while the profiles of autistic traits for children with PWS differed from those of children with AD at elementary school age, the profiles showed no significant differences between the groups at middle school age. The findings suggest that autistic traits in PWS become gradually more prominent with increasing of age and that these autistic traits differ in their fundamental nature from those observed in AD. © 2014 Wiley Periodicals, Inc.

Lack of Postprandial Peak in Brain-Derived Neurotrophic Factor in Adults with Prader-Willi Syndrome.

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Marta Bueno

Full Text Available Prader-Willi syndrome (PWS is characterized by severe hyperphagia. Brain-derived neurotrophic factor (BDNF and leptin are reciprocally involved in energy homeostasis.To analyze the role of BDNF and leptin in satiety in genetic subtypes of PWS.Experimental study.University hospital.90 adults: 30 PWS patients; 30 age-sex-BMI-matched obese controls; and 30 age-sex-matched lean controls.Subjects ingested a liquid meal after fasting ≥10 hours.Leptin and BDNF levels in plasma extracted before ingestion and 30', 60', and 120' after ingestion. Hunger, measured on a 100-point visual analogue scale before ingestion and 60' and 120' after ingestion.Fasting BDNF levels were lower in PWS than in controls (p = 0.05. Postprandially, PWS patients showed only a truncated early peak in BDNF, and their BDNF levels at 60' and 120' were lower compared with lean controls (p<0.05. Leptin was higher in PWS patients than in controls at all time points (p<0.001. PWS patients were hungrier than controls before and after eating. The probability of being hungry was associated with baseline BDNF levels: every 50-unit increment in BDNF decreased the odds of being hungry by 22% (OR: 0.78, 95%CI: 0.65-0.94. In uniparental disomy, the odds of being hungry decreased by 66% (OR: 0.34, 90%CI: 0.13-0.9. Postprandial leptin patterns did no differ among genetic subtypes.Low baseline BDNF levels and lack of postprandial peak may contribute to persistent hunger after meals. Uniparental disomy is the genetic subtype of PWS least affected by these factors.

Impaired theory of mind and symptoms of Autism Spectrum Disorder in children with Prader-Willi syndrome.

Science.gov (United States)

Lo, Sin Ting; Siemensma, Elbrich; Collin, Philippe; Hokken-Koelega, Anita

2013-09-01

In order to evaluate the social cognitive functioning in children with Prader-Willi syndrome (PWS), Theory of Mind (ToM) and symptoms of Autism Spectrum Disorder were evaluated. Sixty-six children with PWS aged 7-17 years were tested using the Theory of Mind test-R and the Diagnostic Interview for Social Communication disorders. We tested the correlation between Total ToM Standard Deviation Score (Total ToM SDS) and genetic subtype of paternal deletion or maternal uniparental disomy, and total IQ, verbal IQ and performal IQ. Prevalence and symptoms of Autism Spectrum Disorder were assessed. Median (interquartile range) of total ToM SDS of those aged 7-17 years was -3.84 (-5.73, -1.57). Their Total ToM SDS correlated with total IQ (β=0.662, p0.05, adj.R(2)=0.259). No difference in Total ToM SDS was found between children with deletion and maternal uniparental disomy (β=-0.143, p>0.05, adj.R(2)=-0.016). Compared to the reference group of healthy children aged 7-12 years, children with PWS in the same age group had a median ToM developmental delay of 4 (3-5) years. One third of children with PWS scored positive for Autism Spectrum Disorder. Most prominent aberrations in Autism Spectrum Disorder were focused on maladaptive behavior. Our findings demonstrate a markedly reduced level of social cognitive functioning, which has consequences for the approach of children with PWS, i.e. adjustment to the child's level of social cognitive functioning. Copyright © 2013 Elsevier Ltd. All rights reserved.

QOL in caregivers of Japanese patients with Prader-Willi syndrome with reference to age and genotype.

Science.gov (United States)

Ihara, Hiroshi; Ogata, Hiroyuki; Sayama, Masayuki; Kato, Aya; Gito, Masao; Murakami, Nobuyuki; Kido, Yasuhiro; Nagai, Toshiro

2014-09-01

This study aimed to measure quality of life (QOL) of the primary family caregivers for patients with Prader-Willi syndrome (PWS). Comparisons were made between caregivers' QOL in regard to their dependents' genotype and age group. The participants with PWS consisted of 22 children (aged from 6 to 12 years) and 23 adolescents (aged from 13 to 19 years), including 6 children and 7 adolescents with maternal uniparental disomy (mUPD) and 16 children and 16 adolescents with deletion (DEL). The QOL of the primary family caregiver for each patient was assessed using the Japanese version of the WHOQOL-BREF. To examine the effect that age (children vs. adolescents) and genotype (DEL vs. mUPD) have on the QOL of caregivers, a two-way ANOVA was conducted, followed by the Bonferroni procedure to test the simple main effects. The two age groups and the two genotypes of PWS were used as independent variables and the total QOL of caregivers as a dependent variable. The two-way ANOVA (F(1, 41) = 6.98, P caregivers of DEL adolescents showed little difference from that with DEL children, but the QOL of caregivers for mUPD adolescents was shown to be lower than that with mUPD children along with that of caregivers with DEL adolescents. There is hence a growing tendency for the deterioration in the QOL of caregivers to manifest itself later in the patients' adolescence, found mainly with mUPD patients. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

A reduced-energy intake, well-balanced diet improves weight control in children with Prader-Willi syndrome.

Science.gov (United States)

Miller, J L; Lynn, C H; Shuster, J; Driscoll, D J

2013-02-01

Children with Prader-Willi syndrome (PWS) have a predictable pattern of weight gain, with obesity beginning in early childhood and worsening as they get older and hyperphagia increases. Data on the most effective dietary modifications are scant and primarily anecdotal. As part of a longitudinal study investigating the natural history of PWS, we evaluated the effect of a well-balanced, energy-restricted diet on body composition and weight in young children with PWS. Sixty-three children, aged 2-10 years, with genetically proven PWS participated in the present study. These children had measurements of body composition by dual-energy X-ray absorptiometry and resting energy expenditure (REE), as well as a 3-day diet history analysis both before and after intervention. Energy calculations were based on the individual's REE, with the recommendation that the macronutrients of the diet consist of 30% fat, 45% carbohydrates and 25% protein, with at least 20 g of fibre per day. Thirty-three families adhered to our dietary recommendations for both energy intake and macronutrient distribution. Those 33 children had lower body fat (19.8% versus 41.9%; P diet. Those who followed our recommendations also had a lower respiratory quotient (0.84 versus 0.95; P = 0.002). Our recommendation for an energy-restricted diet with a well-balanced macronutrient composition and fibre intake improves both weight and body composition in children with PWS compared to a simple energy-restricted diet. © 2012 The Authors. Journal of Human Nutrition and Dietetics © 2012 The British Dietetic Association Ltd.

EPL-i ümarlaud : kõige olulisem on vähi varajane avastamine / Ille Grün-Ots

Index Scriptorium Estoniae

Grün-Ots, Ille, 1960-2016

2007-01-01

Ümarlaual osalesid TÜ kliinikumi hematoloogia-onkoloogiakliiniku professor Hele Everaus, ravimifirma Roche Eesti OÜ tegevjuht Kadri Mägi, ravifirma GlaxoSmithKline Eesti filiaali juhataja Akshay Mody ja PERH-i keemiaravispetsialist Helis Pokker

Lasva veetorn-galerii = Lasva water tower-gallery / Veronika Valk

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Valk, Veronika, 1976-

2010-01-01

Lasva veetorni rekonstrueerimisest klavertrepiga kunstigaleriiks-vaatetorniks. Projekteerija: Zizi & Yoyo. Autorid: arhitekt Veronika Valk, arhitekti abiline Kadri Klementi, kunstnik Peeter Laurits, skulptor Kalle-Priit Pruuden, Kalle Tikas (heli elektroonika). Projekt: 2006-2008, valmis: 2009

Inimesed ostavad kinnisvara asemel üha rohkem teemante / Kerli Nõu

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Nõu, Kerli

2005-01-01

Eesti gemmoloogid Karin Eensaar ja Heli Kuulmann teemantidest kui investeeringust. Kommenteerib Karin Eensaar. Lisad: Maapõu peidab ülivanu kivikesi. Kultusehe number kaks: pärlikee; De Beers. Alrosa. BHP Billiton, Rio Tinto

Kõlakoda - muusika tundeline vägi / Tiit Kändler

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Kändler, Tiit, 1948-

2008-01-01

Teaduslikust muusikast - muusika seostest matemaatikaga, süsteemsest lähenemisest muusikale. Heli salvestamisest ja heliteadusest. Leiutajate Thomas Alva Edisoni ja Edouard-Leon Scott de Martinville'i loodud maailma esimestest helitaasesitusseadmetest ja helisalvestustest

NCBI nr-aa BLAST: CBRC-HSAP-15-0013 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-15-0013 ref|NP_001008860.1| non imprinted in Prader-Willi/Angelman syndro...me 2 isoform a [Homo sapiens] ref|NP_112184.4| non imprinted in Prader-Willi/Angelman syndrome 2 isoform a [...Homo sapiens] ref|NP_001008892.1| non imprinted in Prader-Willi/Angelman syndrome 2 isoform a [Homo sapiens]... sp|Q8N8Q9|NIPA2_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region pro...tein 2 sp|Q5R7Q3|NIPA2_PONPY Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 homolog dbj|BA

Panustamine töötaja teadmiste testimisse tasub ära / Maio Rannamägi, Kreet Aun, Mari Krumm

Index Scriptorium Estoniae

Rannamägi, Maio

2006-01-01

If Eesti Kindlustus lõi töötajate teadmiste testimise süsteemi, et omada parimate kindlustusalaste teadmistega personali Eestis. Vt. samas: Teste täiustati pidevalt. Kommenteerivad Heli Kauber ja Annika Jung

Very Complicated, indeed! / Jürgen Rooste

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Rooste, Jürgen, 1979-

2005-01-01

Marco Laimre ja Killu Sukmiti näitus "Very Complicated Rock'n'Roll" Kunstihoone galeriis kuni 22. V. Heli: Indrek Pinsel, Andres Lõo, Riho Sibul, Erkki-Sven Tüür, Rainer Jancis (heliinstallatsiooni seadmine)

Uuring : 3G vajab läbilöögiks televisiooni / Askur Alas

Index Scriptorium Estoniae

Alas, Askur, 1973-

2004-01-01

Analysys'i uuringu kohaselt võivad need mobiilsideoperaatorid, kes pakuvad 3G võrgus televisiooni või filmide vaatamise võimalust, olla edukamad kui need, kes piirduvad ainult heli ja tavalise andmeside võimalustega

Yeast Interacting Proteins Database: YER081W, YDR105C [Yeast Interacting Proteins Database

Lifescience Database Archive (English)

Full Text Available YDR105C TMS1 Vacuolar membrane protein of unknown function that is conserved in mammals; predicted to contai...tion that is conserved in mammals; predicted to contain eleven transmembrane heli

Suveetendus eksootilises paigas / Heli Salong

Index Scriptorium Estoniae

Salong, Heli, 1958-

2004-01-01

Eeloleval suvel on teatrihuvilistel võimalik näha vabaõhuetendust väga erilises kohas - Pöide vallas asuval Udriku laiul, kus etendatakse P. Vallaku "Relvad vastamisi", lavastaja E. Klemets. Korraldajateks on MTÜ Lihtsad Lahendused koostöös AS Fix Ideed Estonia ja Ugala teatriga

Filmile tardunud heli / Immo Mihkelson

Index Scriptorium Estoniae

Mihkelson, Immo, 1959-

2001-01-01

Kinomajas esitleti Lepo Sumera filmimuusika plaati "Film music by Lepo Sumera" ("Muusikat "Tallinnfilmi" filmidest") firmalt Antes CD. Ka teistest eesti filmiheliloojatest, lähemalt Sumera õpilasest Jüri Reinverest

Siim Nestor soovitab : DJ Muggs. Odessa Pop : HUHi soojendus / Siim Nestor

Index Scriptorium Estoniae

Nestor, Siim, 1974-

2007-01-01

Üritusest "HipHop Café" 27. sept. Tallinnas Club Hollywoodis, heliplaadi "The Legend of the Mask and the Assassin" esitlusest. Üritusest "Odessa Pop" festivali "Hea Uus Heli" raames 29. sept. Tallinnas Von Krahlis

Mitmekesine, mitmel viisil kesine / Ly Lestberg

Index Scriptorium Estoniae

Lestberg, Ly, 1965-

2004-01-01

Arvustus: Robbe-Grillet, Alain. Džinn : punane auk ebaühtlaste sillutuskivide vahel : moodsa aja lugemik = Djinn : un trou rouge entre les pavés disjoints / Heli Alliku tõlge. [Tallinn] : Valgus, 2004. (Homo ludens)

[Raamat] / Tarmo Rajamets

Index Scriptorium Estoniae

Rajamets, Tarmo, 1969-

2004-01-01

Tutvustus: Robbe-Grillet, Alain. Džinn : punane auk ebaühtlaste sillutuskivide vahel : moodsa aja lugemik = Djinn : un trou rouge entre les pavés disjoints / Heli Alliku tõlge. [Tallinn] : Valgus, 2004. (Homo ludens)

NCBI nr-aa BLAST: CBRC-SARA-01-1746 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-SARA-01-1746 ref|NP_705806.1| non-imprinted in Prader-Willi/Angelman syndrome ...1 [Mus musculus] sp|Q8BHK1|NIPA1_MOUSE Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 homo...protein product [Mus musculus] gb|AAH55828.1| Non imprinted in Prader-Willi/Angel...man syndrome 1 homolog (human) [Mus musculus] gb|EDL21870.1| non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) [Mus musculus] NP_705806.1 1e-113 81% ... ...log gb|AAM34534.1| non-imprinted in Prader-Willi/Angelman syndrome 1 [Mus musculus] dbj|BAC32809.1| unnamed

Kiberataki pridjotsja otrazhat samostojatelno / Roman Starapopov

Index Scriptorium Estoniae

Starapopov, Roman

2008-01-01

Valitsuse kinnitatud Eesti küberjulgeoleku strateegia üks olulisi põhimõtteid on igaühe vastutus kasutuses oleva süsteemi julgeoleku eest. Kaitseministeeriumi töötaja Heli Tiirmaa-Klaari selgitusi strateegia kohta

Eramu Viimsis : Mäekünka 8, Harjumaa = Private home in Viimsi : Mäekünka 8, Harju County / Liina Jänes

Index Scriptorium Estoniae

Jänes, Liina, 1977-

2008-01-01

Hoone on suures osas valatud monoliitbetoonist ning puhas betoonpind kujundab maja väljast ja seest. Arhitekt Eero Palm. Sisearhitektid: Kadi Kõpper, Heli Aade. I ja II korruse plaan, värv. välisvaade, sisevaade

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.

Science.gov (United States)

Han, Ji Yoon; Park, Joonhong; Jang, Woori; Chae, Hyojin; Kim, Myungshin; Kim, Yonggoo

2016-07-01

Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. This occurs via one of the three main genetic mechanisms, as follows: Deletion of the paternally inherited 15q11.2-q13 region, maternal uniparental disomy and imprinting defect. Recent studies have reported an association between imprinting disorders and assisted reproductive technologies (ART). The current study presents a 6-year-old female patient who is a dizygotic twin, in which one was born with de novo microdeletion at 15q11.2-q13.1 following in vitro fertilization. The patient had characteristic facial features including narrow bifrontal diameter, strabismus, downturned mouth, feeding problems and generalized hypotonia during infancy, developmental delay, mental retardation and rapid weight gain. Based upon phenotypic resemblance and the medical records, methylation-specific multiplex ligation-dependent probe amplification and array-based comparative genome hybridization analyses demonstrate type 2 microdeletion between breaking point 2 (BP2) and BP3, which occur from MKRN3 through HERC2 at 15q11.2-q13.1. To the best of our knowledge, the present study is the first to report a PWS case born following ART reported in South Korea. In addition to previous studies, the present study contributes to the consensus regarding genotype-phenotype comparisons in this respect.

Cerebrovascular Diseases in Childhood Cancer Survivors: Role of the Radiation Dose to Willis Circle Arteries

Energy Technology Data Exchange (ETDEWEB)

El-Fayech, Chiraz; Haddy, Nadia; Allodji, Rodrigue Sètchéou; Veres, Cristina; Diop, Fara; Kahlouche, Amar; Llanas, Damien; Jackson, Angela; Rubino, Carole; Guibout, Catherine [Inserm U1018, Villejuif (France); Gustave Roussy, Villejuif (France); University of Paris XI, Villejuif (France); Pacquement, Hélène [Institut Curie, Paris (France); Oberlin, Odile [Gustave Roussy, Villejuif (France); Thomas-Teinturier, Cécile [Inserm U1018, Villejuif (France); Hôpital Bicêtre, Le Kremlin Bicêtre (France); Scarabin, Pierre-Yves [Inserm U1018, Villejuif (France); Chavaudra, Jean; Lefkopoulos, Dimitry [Gustave Roussy, Villejuif (France); Giroud, Maurice; Bejot, Yannick [Registre Dijonnais des accidents vasculaires cérébraux, Dijon (France); Bernier, Valérie [Centre Alexis Vautrin, Vandoeuvre-lès-Nancy (France); Carrie, Christian [Centre Léon Bérard, Lyon (France); and others

2017-02-01

Background and Purpose: The aim of this study was to investigate the role of radiation dose received to the circle of Willis (WC) during radiation therapy (RT) and of potential dose-response modifiers on the risk of stroke after treatment of childhood cancer. Methods: We evaluated the risk factors for stroke in a cohort of 3172 5-year survivors of childhood cancer who were followed up for a median time of 26 years. Radiation doses to the WC and brain structures were estimated for each of the 2202 children who received RT. Results: Fifty-four patients experienced a confirmed stroke; 39 were ischemic. Patients not receiving RT had a stroke risk similar to that of the general population, whereas those who received RT had an 8.5-fold increased risk (95% confidence interval [CI]: 6.3-11.0). The excess of incidence of stroke increased yearly. The dose of radiation to the WC, rather than to other brain structures, was found to be the best predictor of stroke. The relative risk was 15.7 (95% CI: 4.9-50.2) for doses of 40 Gy or more. At 45 years of age, the cumulative stroke incidence was 11.3% (95% CI: 7.1%-17.7%) in patients who received 10 Gy or more to the WC, compared with 1% expected from general population data. Radiation doses received to the heart and neck also increased the risk. Surgery for childhood brain cancer was linked to hemorrhagic strokes in these patients. Conclusion: The WC should be considered as a major organ at risk during RT for childhood brain cancers. The incidence of radiation-induced ischemic stroke strongly increases with long-term follow-up.

Cerebrovascular Diseases in Childhood Cancer Survivors: Role of the Radiation Dose to Willis Circle Arteries

International Nuclear Information System (INIS)

El-Fayech, Chiraz; Haddy, Nadia; Allodji, Rodrigue Sètchéou; Veres, Cristina; Diop, Fara; Kahlouche, Amar; Llanas, Damien; Jackson, Angela; Rubino, Carole; Guibout, Catherine; Pacquement, Hélène; Oberlin, Odile; Thomas-Teinturier, Cécile; Scarabin, Pierre-Yves; Chavaudra, Jean; Lefkopoulos, Dimitry; Giroud, Maurice; Bejot, Yannick; Bernier, Valérie; Carrie, Christian

2017-01-01

Background and Purpose: The aim of this study was to investigate the role of radiation dose received to the circle of Willis (WC) during radiation therapy (RT) and of potential dose-response modifiers on the risk of stroke after treatment of childhood cancer. Methods: We evaluated the risk factors for stroke in a cohort of 3172 5-year survivors of childhood cancer who were followed up for a median time of 26 years. Radiation doses to the WC and brain structures were estimated for each of the 2202 children who received RT. Results: Fifty-four patients experienced a confirmed stroke; 39 were ischemic. Patients not receiving RT had a stroke risk similar to that of the general population, whereas those who received RT had an 8.5-fold increased risk (95% confidence interval [CI]: 6.3-11.0). The excess of incidence of stroke increased yearly. The dose of radiation to the WC, rather than to other brain structures, was found to be the best predictor of stroke. The relative risk was 15.7 (95% CI: 4.9-50.2) for doses of 40 Gy or more. At 45 years of age, the cumulative stroke incidence was 11.3% (95% CI: 7.1%-17.7%) in patients who received 10 Gy or more to the WC, compared with 1% expected from general population data. Radiation doses received to the heart and neck also increased the risk. Surgery for childhood brain cancer was linked to hemorrhagic strokes in these patients. Conclusion: The WC should be considered as a major organ at risk during RT for childhood brain cancers. The incidence of radiation-induced ischemic stroke strongly increases with long-term follow-up.

NCBI nr-aa BLAST: CBRC-SARA-01-1746 [SEVENS

Lifescience Database Archive (English)

Full Text Available 1| unnamed protein product [Mus musculus] gb|EAW65549.1| non imprinted in Prader-Willi/Angelman syndrome 1, ...isoform CRA_a [Homo sapiens] gb|EAW65551.1| non imprinted in Prader-Willi/Angelman syndrome 1, isoform CRA_a... [Homo sapiens] gb|ABM82178.1| non imprinted in Prader-Willi/Angelman syndrome 1 ...[synthetic construct] gb|ABM85364.1| non imprinted in Prader-Willi/Angelman syndrome 1 [synthetic construct] CAD97953.1 1e-113 81% ...

Transcranial direct current stimulation reduces food-craving and measures of hyperphagia behavior in participants with Prader-Willi syndrome.

Science.gov (United States)

Bravo, Gabriela L; Poje, Albert B; Perissinotti, Iago; Marcondes, Bianca F; Villamar, Mauricio F; Manzardo, Ann M; Luque, Laura; LePage, Jean F; Stafford, Diane; Fregni, Felipe; Butler, Merlin G

2016-03-01

Prader-Willi syndrome (PWS) is a neurodevelopmental genetic disorder characterized by intellectual disabilities and insatiable appetite with compulsive eating leading to severe obesity with detrimental health consequences. Transcranial direct current stimulation (tDCS) has been shown to modulate decision-making and cue-induced food craving in healthy adults. We conducted a pilot double blind, sham-controlled, multicenter study of tDCS modulation of food drive and craving in 10 adult PWS participants, 11 adult obese (OB) and 11 adult healthy-weight control (HWC) subjects. PWS and OB subjects received five consecutive daily sessions of active or sham tDCS over the right dorsolateral prefrontal cortex (DLPFC), while HWC received a single sham and active tDCS in a crossover design. Standardized psychometric instruments assessed food craving, drive and hyperphagia by self-report and caregiver assessment over 30 days. Robust baseline differences were observed in severity scores for the Three-Factor Eating Questionnaire (TFEQ) and Dykens Hyperphagia Questionnaire (DHQ) for PWS compared to HWC while obese participants were more similar to HWC. Active tDCS stimulation in PWS was associated with a significant change from baseline in TFEQ Disinhibition (Factor II) (Ƶ = 1.9, P food drive and behaviors impacting hyperphagia in PWS. Transcranial direct current stimulation may represent a straight-forward, low risk and low cost method to improve care, management and quality of life in PWS. © 2015 Wiley Periodicals, Inc.

Kunstnikud käivad katuseid mööda / Hanno Soans

Index Scriptorium Estoniae

Soans, Hanno, 1974-

2010-01-01

Näitus "Linna kohal" Tallinna Linnagaleriis 19. septembrini 2010. Osalevad Anu Vahtra, Johnson & Johnson, Timo Toots, Claudia Doms, Mikk Heinsoo, Urmo Mets, Marit Ilison. Kuraatorid Kadri Klementi ja Helis Teiter. Näituse teemaks on linnamajade kasutamata katusepinnad

Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects.

Science.gov (United States)

Hassan, Maaz; Butler, Merlin G

2016-11-01

We report a 20 year follow up on a Caucasian female, now 26 years of age, with Prader-Willi syndrome (PWS) harboring an atypical 15q11-q13 submicroscopic deletion of 100-200 kb in size first detected in 1996 involving the imprinting center, SNRPN gene and surrounding region. PWS is a rare complex disorder caused by the loss of paternally expressed genes in the 15q11-q13 region. With high resolution chromosomal microarray and methylation - specific MLPA analysis, we updated the genetic findings on our patient and found a 209,819bp deletion including the SNURF-SNRPN gene complex which includes the imprinting center and the SNORD116 region. We compared with four other similarly reported individuals in the literature with atypical submicroscopic deletions within this region but without imprinting center involvement to better characterize the specific genetic lesions causing PWS clinical findings. Clinically, our patient met the diagnostic criteria of PWS including infantile hypotonia, a poor suck with feeding difficulties, global developmental delays and later food foraging, childhood obesity, small hands and skin picking. Small atypical deletions of comparable sizes were seen in the 15q11-q13 region in all five cases and similar behavioral/physical characteristics were found despite an imprinting defect in our patient. These results further support an overlapping critical deletion region involving the non-coding snoRNA SNORD116 in common in the five individuals playing a key role in contributing to the PWS phenotype. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Nanoenergetics and High Hydrogen Content Materials for Space Propulsion

Science.gov (United States)

2014-01-28

past twenty years. Ammonia borane has already been used with success to produce hydrogen for chemical lasers and fuel cells. The alternatives being...adduct solution in the presence of a titanium catalyst under an inert atmosphere. The resulting material was used to reduce complexes of gold, nickel...A. Varma, B. Legrand, C. Chauveau, and I. Gokalp, “Ignition and Combustion of Al Particles Clad by Ni”, Combust. Sci. Tech., Vol. 174, 2002, pp

Noor Eesti muusika plahvatab! / Andres Lõo

Index Scriptorium Estoniae

Lõo, Andres

2004-01-01

Popmuusikaüritustest muusikafestivali Hea Uus Heli raames: "1öö%" Von Krahlis ja "Viva la HUH!" kultuuritehases Polymer 8. ja 9. okt.. Jaapanlase Emi Maeda kontserdist Kanuti Gildi saalis 8. okt.ja elektroonilise muusika esitajatest Von Krahlis

Sille Pihlaku ja Siim Tuksami arhitektuuritegevus = Activities of Sille Pihlak and Siim Tuksam in the Field of Architecture / Sille Pihlak, Siim Tuksam

Index Scriptorium Estoniae

Pihlak, Sille

2016-01-01

Installatsioon "Keha ehitus" Rotermanni Soolalao ees (2015), Eleringi disainimast "Soorebane" (konkursi võidutöö, 2016), Tallinn Music Week installatsioonid "HeliLained" (2016), näituse "Keha ehitus" kureerimine Eesti Arhitektuurimuuseumis (2015). Kultuurkapitali Arhitektuuri sihtkapitali aastapreemia nominent 2016

76 FR 5467 - Airworthiness Directives; Pilatus Aircraft Ltd. Models PC-6, PC-6-H1, PC-6-H2, PC-6/350, PC-6/350...

Science.gov (United States)

2011-02-01

...;Prices of new books are listed in the first FEDERAL REGISTER issue of each #0;week. #0; #0; #0; #0;#0..., Fairchild Heli Porter PC-6 airplanes, or Fairchild-Hiller Corporation PC-6 airplanes. Discussion Section... [[Page 5469

Keeleinimesed muretsevad inglise keele sissetungi pärast / Kaarel Kressa

Index Scriptorium Estoniae

Kressa, Kaarel, 1983-

2007-01-01

Kumu auditooriumis toimunud keelefoorumil arutati eesti keele tulevikuväljavaateid. Tallinna Ülikooli õppejõud Heli Mattisen osutas faktile, et toimumas on inglise keele hiiliv sulandumine kõrgharidusse. Mati Hindile tegi muret eestikeelse muusika vähesus riigiraadios

An experimental investigation of the hemodynamic variations due to aplastic vessels within three-dimensional phantom models of the Circle of Willis.

LENUS (Irish Health Repository)

Fahy, Paul

2013-09-10

A complete circle of Willis (CoW) is found in approximately 30-50% of the population. Anatomical variations, such as absent or surgically clamped vessels, can result in undesirable flow patterns. These can affect the brain\\'s ability to maintain cerebral perfusion and the formation of cerebral aneurysms. An experimental test system was developed to simulate cerebral physiological conditions through three flexible 3D patient-specific models of complete and incomplete CoW geometries. Flow visualizations were performed with isobaric dyes and the mapped dye streamlines were tracked throughout the models. Three to seven flow impact locations were observed for all configurations, corresponding to known sites for aneurysmal formation. Uni and bi-directional cross-flows occurred along the communicating arteries. The greatest shunting of flow occurred for a missing pre-communicating anterior (A1) and posterior (P1) cerebral arteries. The anterior cerebral arteries had the greatest reduction (15-37%) in efferent flow rates for missing either a unilateral A1 or bilateral P1 segments. The bi-directional cross-flows, with multiple afferent flow mixing, observed along the communicating arteries may explain the propensity of aneurysm formation at these sites. Reductions in efferent flow rates due to aplastic vessel configurations may affect normal brain function.

Tarmeko on Olev Niguli elutöö / Annely Allik

Index Scriptorium Estoniae

Allik, Annely

2005-01-01

Olev Nigul on 40 aastat juhtinud Tartus tegutsevat mööblitööstusettevõtet Tarmeko. Kommenteerivad: Heli Lutsar, Triinu Lööve ja Lea Koorits. Vt. samas: Akordion ja spinning aitavad töömõtted unustada

Kontseptsioonid ja persoonid / Mari Sobolev

Index Scriptorium Estoniae

Sobolev, Mari, 1968-

2003-01-01

Heli Sarapuu näitus "Isale" Hobusepea galeriis. Valeri Vinogradovi "Design Jet 5001" Viviann Napi Galeriis. Eve Kiileri "Progressi arhitektoonika" Tallinna Linnagaleriis. Jan Van Imschooti maalinäitus "Müstilised patud ja kaasaegsed värvid. Ümberhindamise asupaik"

Treatment of scoliosis in patients affected with Prader-Willi syndrome using various techniques

Directory of Open Access Journals (Sweden)

Cioni Alfredo

2010-06-01

Full Text Available Abstract Background The incidence of spinal deformity in children with Prader-Willi syndrome (PWS is high, with 86% of these patients found to have a significant structural scoliosis; however, there are very few case reports describing surgical treatment for this deformity. Methods The authors reviewed a case series consisting of 6 patients who underwent spine surgery for scoliosis. Children's mean age at index surgery was 12 years and 10 months (range, 10 to 15 yrs. Clinical evaluation revealed the typical phenotypic features of the PWS in all of the patients; 4 subjects had a karyotype confirmation of PWS. Major structural curves showed preoperative mean Cobb angles of 80.8° (range, 65° to 96°. Hybrid instrumentation with sublaminar wires, hooks and screws was used in the first 2 patients, while the remaining 4 were treated with titanium pedicle screw constructs. Results The mean clinical and radiological follow-up was 3 years and 10 months (range, 2 years to 9 years. Major complication rate was 50%. One patient who developed a major intraoperative complication (paraparesis prevented spinal fusion to be obtained: the neurologic deficit resolved completely after instrumentation removal. Solid arthrodesis and deformity correction in both coronal and sagittal plane was, however, achieved in the other 5 cases and no significant curve progression was observed at follow-up. Another major short-term complication was encountered 3 months after surgery in a patient who experienced the detachment of a distally located rod and required correction through revision surgery and caudal extension by one level. Cervico-thoracic kyphosis was seen in 1 patient who did not require revision surgery. Conclusions Spine reconstructive surgery in patients with PWS is rare and highly demanding. The best method of reconstruction is posterior multilevel pedicle screw fixation. Moreover, even with modern techniques, the risk of complications is still high. These new

Workshop Polli Talu Loomingulises Keskuses

Index Scriptorium Estoniae

2004-01-01

MAP Intermedia Performance Collaboration'i (USA) workshop. Brendan McCall (liikumine), N. B. Aldrich (heli) ja Zach Poff (video) workshop tutvustab kolme kunstniku koostööd. Näidatakse ka multimeedia etendust, mis on külaliskunstnikel valminud Polli talus

Deceptive pictures and revealing sounds / Anu Allas

Index Scriptorium Estoniae

Allas, Anu, 1977-

2009-01-01

2009. aasta Ars Fennica kunstipreemia pälvinud eesti kunstniku ja fotograafi Mark Raidpere videokunstist, muusika ja heli tähtsast rollist tema videotes (videod "Pühendus/Dedication" (2008), "5 Guards" (2006), "Wailing Woman" (2007), "Majestoso Mystico" (2007), "Vekovka" (2008) jt.)

Stuart Brisley etendused inimliku ja kunstipärase piiril / Andri Ksenofontov

Index Scriptorium Estoniae

Ksenofontov, Andri, 1962-

2009-01-01

Stuart Brisley näitus "Crossings" ("Ületamised") Tallinna Linnagaleriis 19- sept. - 4. oktoobrini. Heli- ja valgusinstallatsioonist "Touching Black Ice" Titanicu hukkumisest 1912. a. 15. aprillil. Videoinstallatsioonist "Blackout" Estonia hukkumisest 1994. a. 28. septembril. Näitusega kaasnevast kataloogist. Stuart Brisley loomingust

Priit Pärna vanad hitid jõuavad taastatuna kinno / Tiit Tuumalu

Index Scriptorium Estoniae

Tuumalu, Tiit, 1971-

2008-01-01

Priit Pärna kuus joonisfilmi on digitaalselt taastatud Nkufilmi stuudios Saksa TrickWILK tehnikaga (restauraator Tõnu Talivee) ja heli osas Ants Andrease juhtimisel firmas Film Audio. Sõpruse kinos toimub eriseanss "Priit Pärn revisited" lühifilmide festivali raames 29. augustil

Tunnuslause on leitud

Index Scriptorium Estoniae

2008-01-01

2010 aasta kirikupäeva ja vaimuliku laulupeo sihtasutuse nõukogu kinnitas moto, milleks valiti murdekeelne kutse: "Mu mano tulge, latse". Moto konkursist (EELK kirikupäev ja vaimulik laulupidu toimuvad 11.-13. juunil 2010 Tartus, kunstiliseks juhiks Heli Jürgenson)

NCBI nr-aa BLAST: CBRC-STRI-01-2632 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2632 ref|NP_001008860.1| non imprinted in Prader-Willi/Angelman syndro...me 2 isoform a [Homo sapiens] ref|NP_112184.4| non imprinted in Prader-Willi/Angelman syndrome 2 isoform a [...Homo sapiens] ref|NP_001008892.1| non imprinted in Prader-Willi/Angelman syndrome 2 isoform a [Homo sapiens]... ref|NP_001126291.1| non imprinted in Prader-Willi/Angelman syndrome 2 [Pongo abe...lii] sp|Q8N8Q9|NIPA2_HUMAN RecName: Full=Magnesium transporter NIPA2; AltName: Full=Non-imprinted in Prader-

The Developmental Trajectory of Self-Injurious Behaviours in Individuals with Prader Willi Syndrome, Autism Spectrum Disorder and Intellectual Disability

Directory of Open Access Journals (Sweden)

Lauren J. Rice

2016-02-01

Full Text Available In the present study we examined the nature and developmental trajectory of self-injurious behaviour in Prader Willi syndrome (PWS and autism spectrum disorder (ASD. The development of interventions is greatly aided by understanding gene to behaviour pathways, and this requires an accurate description of the behaviour phenotype, that is, which types and natural history of self-injurious behaviour are more common in PWS and ASD and which are shared with other forms of developmental disability. Self-injury displayed by individuals with PWS and individuals with ASD was compared with that reported in a group of individuals with intellectual disability due to mixed aetiology (ID group. Three self-injurious behaviours (head banging, skin-picking and hitting and/or biting self were measured on five occasions over 18 years using the Developmental Behaviour Checklist (DBC a well-validated caregiver report measure. Rates of skin picking were higher in individuals with PWS and hitting and/or biting self was higher in individuals with ASD compared to the ID group. Rates of head banging were similar across the three groups. Over time, skin-picking and head banging increased with age for individuals with ASD and hitting and/or biting self increased for the PWS group. In the PWS and mixed ID groups head banging decreased with age. These findings suggest that the typology and developmental trajectories of self-injurious behaviours differ between those with PWS and ASD.

A Shrinking Army in Europe: Can the US Achieve Its Military Strategic Goals Without It?

Science.gov (United States)

2014-06-13

French and was lauded as an operational strength by both French generals and subsequent Armée De Terre after action reviews.153 The joint headquarters...2013): 48. 151LtCol Yannick Legrand and LtCol Emmanuel Durville, “French Update September-October 2013,” Armée de Terre Special Update (October 2013...surveillance and reconnaissance assets (ISR) provided much of the targeting information to French howitzers and aircraft.158 The Armée De Terre also proved

Behavioral Criteria in Research and the Study of Racism: Performing the Jackal Function. Part I.

Science.gov (United States)

1979-01-01

Legrande Clegg Attorney at Law /Historian Los Angeles, Ca. Price Cobbs, M.D. Director, Pacific Management Systems, San Francisco, Ca. John Collier...Angeles, Ca. Joseph T. Klapper, Ph.D. C. B. S. Social Research I ill Charles Lawrence, J.D. College of Law , University of San Francisco, Ca. Lee C. Lee...beliefs of the people who use it. 7. S. Szasz 70" CHAPTER IV The Historical Background and Theoretical Model for the Study of Racist Belief-Behavior and

Mental and motor development before and during growth hormone treatment in infants and toddlers with Prader-Willi syndrome.

Science.gov (United States)

Festen, D A M; Wevers, M; Lindgren, A C; Böhm, B; Otten, B J; Wit, J M; Duivenvoorden, H J; Hokken-Koelega, A C S

2008-06-01

Prader-Willi syndrome (PWS) is a neurogenetic disorder characterized by muscular hypotonia, psychomotor delay, feeding difficulties and failure to thrive in infancy. GH treatment improves growth velocity and body composition. Research on the effects of GH on psychomotor development in infants with PWS is limited. To evaluate psychomotor development in PWS infants and toddlers during GH treatment compared to randomized controls. Forty-three PWS infants were evaluated at baseline. Twenty-nine of them were randomized into a GH group (n = 15) receiving 1 mg/m(2)/day GH or a non-GH-treated control group (n = 14). At baseline and after 12 months of follow-up, analysis with Bayley Scales of Infant Development II (BSID-II) was performed. Data were converted to percentage of expected development for age (%ed), and changes during follow-up were calculated. Infants in the GH group had a median age of 2.3 years [interquartile range (IQR) 1.7-3.0] and in the control group of 1.5 years (IQR 1.2-2.7) (P = 0.17). Both mental and motor development improved significantly during the first year of study in the GH group vs. the control group: median (IQR) change was +9.3% (-5.3 to 13.3) vs.-2.9% (-8.1 to 4.9) (P development and +11.2% (-4.9 to 22.5) vs.-18.5% (-27.9 to 1.8) (P development, respectively. One year of GH treatment significantly improved mental and motor development in PWS infants compared to randomized controls.

NCBI nr-aa BLAST: CBRC-STRI-01-2632 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2632 ref|NP_001100988.1| non imprinted in Prader-Willi/Angelman syndro...me 2 homolog [Rattus norvegicus] gb|EDL86457.1| non imprinted in Prader-Willi/Angelman syndrome 2 homolog (h...uman) (predicted), isoform CRA_a [Rattus norvegicus] gb|EDL86458.1| non imprinted in Prader-Willi/Angelman s

Sensible branding / Martin Lindström ; interv. Alina Lisina

Index Scriptorium Estoniae

Lindström, Martin

2006-01-01

Autori juhitud ühe tähtsaima tootearendusalase uurimuse järelduseks on, et tootearenduses on oluline kasutada kõiki viit meelt. See tähendab, et hea toode eristub teistest nii lõhna, heli, välimuse, maitse kui ka kombatavuse poolest

Õpetatud Eesti Selts 1988-1991 : [Ülevaade koosolekutest] / Tiit Rosenberg, Maris Pruuli

Index Scriptorium Estoniae

Rosenberg, Tiit, 1946-

1995-01-01

Lisa: Õpetatud Eesti Seltsi taasasutamise ürik : [26 apr. 1988]. Allakirjutanute hulgas Paul Ariste, Eduard Laugaste, Leo Metsar, Aino Põldmäe, Harald Peep, Juhan Peegel, Imbi Pelkonen, Heno Sarv, Arne Merilai, Margus Kasterpalu, Heli Laanekask, Eva Aaver, Paul Hagu, Hando Runnel

NCBI nr-aa BLAST: CBRC-PABE-16-0005 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-PABE-16-0005 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-114 79% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

NCBI nr-aa BLAST: CBRC-STRI-01-2632 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2632 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-142 88% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

NCBI nr-aa BLAST: CBRC-HSAP-15-0013 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-HSAP-15-0013 ref|XP_001106072.1| PREDICTED: similar to non imprinted in Prader...-Willi/Angelman syndrome 2 isoform a isoform 2 [Macaca mulatta] ref|XP_001106137.1| PREDICTED: similar to non imprint...oform 4 [Macaca mulatta] ref|XP_001106265.1| PREDICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a isoform 5 [Macaca mulatta] XP_001106072.1 1e-115 79% ... ...DICTED: similar to non imprinted in Prader-Willi/Angelman syndrome 2 isoform a is...ed in Prader-Willi/Angelman syndrome 2 isoform a isoform 3 [Macaca mulatta] ref|XP_001106204.1| PRE

Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.

Science.gov (United States)

Tvrdik, Tatiana; Mason, Debbie; Dent, Karin M; Thornton, Lisa; Hornton, Sidney N; Viskochil, David H; Stevenson, David A

2015-05-01

Hyperphagia, developmental delays, and maladaptive behaviors are common in Prader-Willi syndrome (PWS) likely resulting in heightened parental stress. Objectives were to evaluate stress, describe usefulness of coping behaviors, and assess the impact of a structured Plan of Care (PC) on parents with children with PWS. Parents answered Perceived Stress Scale (PSS-14), Coping Health Inventory for Parents (CHIP), and narrative/demographic surveys. The PC was introduced to a cohort of parents after completion of the PSS-14 and CHIP and re-administered 4-6 month after the introduction of the PC. Higher parental stress (n = 57) was observed compared to the general population, and associated with parent's age, number of children living at home, and child's age and residential setting. "Maintaining family integration, cooperation, and an optimistic definition of the situation" was the most useful coping pattern. Thirty-eight parents answered the PSS-14 and CHIP after the PC. Parental stress decreased after the PC (P = 0.035). Coping behaviors related to "maintaining family integration" increased after the PC (P = 0.042). Women and men preferred different coping patterns before and after the PC. In conclusion, parental stress is increased in PWS, and a PC decreased stress and increased coping behaviors related to family stability for parents with children with PWS. © 2015 Wiley Periodicals, Inc.

Parent training education program: a pilot study, involving families of children with Prader-Willi syndrome.

Science.gov (United States)

Kodra, Yllka; Kondili, Loreta A; Ferraroni, Alessia; Serra, Maria Antonietta; Caretto, Flavia; Ricci, Maria Antonietta; Taruscio, Domenica

2016-01-01

Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by severe hypotonia during the neonatal period and the first two years of life, the onset of hyperphagia with a risk of obesity during infancy and adulthood, learning difficulties and behavioral or severe psychiatric problems. This complex disease has severe consequences and difficult management issues also for patients' families. Parents of children with PWS need appropriate psychoeducational intervention in order to better manage their children with PWS. The purpose of this study was the implementation and evaluation of a PWS psychoeducational parent training program. The Italian National Center for Rare Diseases implemented a pilot parent training program offered to parents of children with PWS. The intervention's effects was evaluated using questionnaires comprised of 11 items rated on a 7 point Likert scale. The intervention was offered to 43 parents. The behavior problems management, dietary restrictions, autonomy and relationships were indicated by parents as the priority topics which needed to be addressed. Evaluations, immediately post-intervention and after 6 months, were reported by parents, fulfilling specific questionnaires. 90% of parents involved in the study, appreciated the methodology, 86% felt more informed about PWS, 47-62% felt more capable to better approach behaviour's problems, 20-25% felt better about the child's health situation and future expectations. Feeling more capable to help the child autonomy and relationships were reported in 62% and 63% of parents respectively, which decreased significantly (p < 0.05) according to the evaluation 6 months after the intervention. Younger age of parents (< 44 years of age) was significantly correlated with better understanding on how to help the child's autonomy (OR: 0.05; CI: 0.04-0.8) and to better collaborate with the child's teachers (OR: 0.02; CI: 0.001-0.9). Parent training is a promising intervention for parents of children

Tartu linnaraamatukogu ja kunstikuu peakorraldaja Tartu kõrgema kunstikooli koostöös jõuab 27. ja 28. I vanasse kaubamajja kirjandus

Index Scriptorium Estoniae

2006-01-01

Tartu vanas kaubamajas kohtuvad 27. I lastega raamatu "Seitse mütsikest" autorid kirjanik Lehte Hainsalu ja illustraator Lea Malin. 28. I astuvad kavaga "Kahjulik õhtu" publiku ette fs ja Asko Künnap, heli Heikki Kallelt. Esilinastub Jaan-Jürgen Klausi portreefilm "Erakpoeet Marko Kompus"

Ülevaade tolli ja käibemaksu teabepäevast / Rait Kaarma, Mariliis Kannukene, Hiie Õunpuu

Index Scriptorium Estoniae

Kaarma, Rait

2004-01-01

30. märtsil toimunud teabepäevast tolli ja käibemaksu teemal. Ülevaade Heli Tariku, Ruth Paade, Lembar Kivistiku, Martin Hubergi ja Kaia Loobi sõnavõttudest. Lisad: kirjalik tollideklaratsioon (SAD) esitatakse, kui ; tollimaksumäärade, keeldude ja piirangutega saab tutvuda

Ainult kaks küsimust / Aleksandr Žedeljov

Index Scriptorium Estoniae

Žedeljov, Aleksandr

2010-01-01

Vene Teatris juunis 2011 esietenduvast live performance'ist "Alice", mis koosneb kaasaegsest koreograafiast, originaalsest autorimuusikast. videost, animatsioonist ja varjuteatrist. Lewis Carroll'i teosel "Alice Imedemaal" põhineva lavastuse autorid on Olga Privis, Aleksandr Žedeljov, MTÜ Fat Snail, MTÜ Vastik Sipsik, MTÜ HeliTelg

Eesti luule Kajaani sõnakunsti päevadel / Endel Mallene

Index Scriptorium Estoniae

Mallene, Endel, 1933-2002

1996-01-01

Ülevaade Kajaani sõnakunsti päevadest 'Sõna ja heli' ('Sana ja sävel'), kus toimus ka eesti kirjanike luuleõhtu ja Sass Suumani valikkogu esitlus: Suuman, Sass. Viisaampaa ei ole / Tlk. Pirkko Huurto, Ritva Hyry, Hannu Oittinen. Saarijärvi : Pohjoinen, 1996

Eesti Raamatukoguhoidjate Ühing tähistas 90 aasta möödumist asutamisest / Reet Olevsoo

Index Scriptorium Estoniae

Olevsoo, Reet, 1956-

2013-01-01

Ülevaade aasta- ja kõnekoosolekust ning 2012. a preemiate võitjatest. Teadusraamatukogude aasta teona tunnustati uudsel RFID-tehnoloogial põhineva teavikute laenutamis- ja tagastamissüsteemi rakendamist TLÜ Akadeemilises Raamatukogus. Süsteemi rakendamist koordineerisid IT-teenistuse juhataja Peeter Kondratjev ja teenindusosakonna juhataja Heli Sirotkin

NCBI nr-aa BLAST: CBRC-SARA-01-1746 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-SARA-01-1746 ref|NP_653200.2| non-imprinted in Prader-Willi/Angelman syndrome ...1 [Homo sapiens] sp|Q7RTP0|NIPA1_HUMAN Non-imprinted in Prader-Willi/Angelman syndrome region protein 1 tpg|...DAA01477.1| TPA_exp: non-imprinted in Prader-Willi/Angelman syndrome 1 [Homo sapiens] NP_653200.2 1e-113 81% ...

NCBI nr-aa BLAST: CBRC-AGAM-04-0111 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-AGAM-04-0111 ref|NP_001029470.1| non imprinted in Prader-Willi/Angelman syndro...me 2 [Bos taurus] sp|Q3SWX0|NIPA2_BOVIN Non-imprinted in Prader-Willi/Angelman syndrome region protein 2 hom...olog gb|AAI04628.1| Non imprinted in Prader-Willi/Angelman syndrome 2 [Bos taurus] NP_001029470.1 2e-72 51% ...

Pathophysiology and management of intracranial arterial stenosis around the circle of Willis associated with hyperthyroidism: case reports and literature review.

Science.gov (United States)

Matano, Fumihiro; Murai, Yasuo; Adachi, Koji; Kitamura, Takayuki; Teramoto, Akira

2014-04-01

Cases of moyamoya disease or intracranial arterial stenosis around the circle of Willis (M/IAS) associated with hyperthyroidism have been reported. However, most of these previous reports were of the ischemic form of M/IAS and primary hyperthyroidism. To the best of our knowledge, no studies have documented therapy for M/IAS associated with hyperthyroidism. We discuss four previously unreported cases, including those involving the intracerebral hemorrhage form and thyroid-stimulating hormone (TSH) secretion from a pituitary adenoma (secondary hyperthyroidism). We analyzed data from 52 previously reported cases, including the 4 cases presented here, and discuss M/IAS associated with hyperthyroidism, treatment options, pathophysiology, the ischemic and hemorrhagic forms, secondary hyperthyroidism, and the relevant literature. Hyperthyroidism results in thyrotoxicosis and the stimulation of the superior cervical ganglion by TSH antibodies and f-T3/f-T4. Consequently, hypercoagulability and stenosis of the cerebral artery can occur. There are many reports of ischemic M/IAS associated with hyperthyroidism. A conservative approach to treatment is important in such cases; for example, antithyroid therapy should be the first choice to treat ischemic M/IAS. There have been only a limited number of reports on hemorrhagic M/IAS. We presume that hemorrhagic M/IAS tears the weakened vasculature in a manner similar to that of normal M/IAS (with no complicating hyperthyroidism). The authors also reported M/IAS associated with secondary hyperthyroidism due to pituitary thyroid secreting hormone secreting adenoma.

La acedia como forma de malestar en la sociedad actual

Directory of Open Access Journals (Sweden)

María Lucrecia Rovaletti

2014-03-01

Full Text Available Partiendo de la propuesta de Theunissen, se busca realizar un regreso arqueológico respecto al concepto de melancolía en la antigüedad y de acedia medieval. Con ello, se intenta reflexionar esa trama de fatiga, aburrimiento, tedio, tristeza que se entreteje en la cultura actual. Charbonneau y Legrand (2003 designan como paradepresiones a este conjunto de problemas a menudo infrasintomáticos, demasiado lábiles y poco significativos para ser denominados síntomas.

Effects of exenatide on weight and appetite in overweight adolescents and young adults with Prader-Willi syndrome.

Science.gov (United States)

Salehi, P; Hsu, I; Azen, C G; Mittelman, S D; Geffner, M E; Jeandron, D

2017-06-01

Prader-Willi syndrome (PWS) is associated with hyperphagia and hyperghrelinemia with major morbidity because of obesity without effective medical treatment targeting hyperphagia. Exenatide (Byetta [synthetic Exendin-4]; AstraZeneca, Wilmington DE) is a GLP-1 receptor agonist which reduces appetite and weight and may be an effective treatment in PWS. The objective of this study is to determine the effect of a 6-month trial of exenatide on appetite, weight and gut hormones in youth with PWS. Ten overweight and obese subjects with PWS (13-25 years) were recruited for a 6-month open-label, non-randomized, longitudinal study conducted at Children's Hospital Los Angeles. Exenatide was given using standard diabetes dosing without dietary modifications. Weight, body mass index (BMI), truncal fat, appetite and plasma acylated ghrelin were measured over 6 months. Mixed meal tolerance tests were performed at 0 and 6 months. Appetite scores significantly decreased from baseline (32.2 ± 8.7) after 1, 3 and 6 moths of treatment (27.5 ± 8.8, 25.4 ± 9.3, and 25.4 ± 7.2 respectively; p = 0.004). Hemoglobin A1c decreased significantly after treatment, but weight, BMI z-score and adiposity did not. There was no significant change in ghrelin. This is the first longitudinal investigation of the effects of exenatide in subjects with PWS. It was effective in decreasing appetite, without change in weight or BMI in the short term. Larger, controlled, longer-term trials in patients with PWS are needed to confirm the efficacy and safety of exenatide and to evaluate whether its use might induce weight loss when given in conjunction with behavioural modification. © 2016 World Obesity Federation.

Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits.

Science.gov (United States)

Myers, Susan E; Whitman, Barbara Y; Carrel, Aaron L; Moerchen, Victoria; Bekx, M Tracy; Allen, David B

2007-03-01

Infants with Prader-Willi syndrome (PWS) typically display failure to thrive and decreased muscle mass with excess body fat for age. Growth hormone (GH) therapy in children with PWS improves, but does not normalize, body composition and muscle strength and agility. The objective of this study was to determine the effects of earlier GH therapy on anthropometric measurements, body composition, and psychomotor development in affected PWS infants and toddlers. Twenty-five subjects, ages 4-37 months, were randomized to 2 years of GH therapy (1 mg/m(2)/day) or 1 year of observation without GH treatment and then placed on GH (1.5 mg/m(2).day) for 1 year only. Anthropometric measurements were obtained by standard methods: percent body fat, lean body mass, and total body bone mineral density by dual x-ray absorptiometry; motor constructs of mobility and stability by the Toddler Infant Motor Evaluation; and cognitive and language function by the Capute Scales of Infant Language and Cognitive Development. GH-treated PWS subjects demonstrated normalization of length/height standard deviation scores (SDS), faster head growth, increased lean body mass accrual, and decreased percent body fat (P < 0.005 for all parameters), as well as improved language (P = 0.05) and cognitive (P = 0.02) quotient Z-scores compared with similarly aged untreated PWS subjects after 1 year into the study. PWS subjects treated before their first birthday spoke their first words at a mean age of 14.4 +/- 2.8 months and walked independently at 23.3 +/- 4.8 months. GH therapy was well-tolerated; however, one PWS subject experienced scoliosis progression. As greater benefits were seen in our study with early treatment, prompt referral to a pediatric endocrinologist for consideration of GH therapy is recommended for PWS at an early age. (c) 2006 Wiley-Liss, Inc.

Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)

Science.gov (United States)

Dang, Vy; Surampalli, Abhilasha; Manzardo, Ann M; Youn, Stephanie; Butler, Merlin G; Gold, June-Anne; Kimonis, Virginia

2018-01-01

Background and Aims Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic and behavioral abnormalities. We report the first case of an unbalanced de-novo reciprocal translocation of chromosome 15 and 19: 45,XY,-15, der (19)t(15;19)(q12;p13.3) resulting in monosomy for the PWS chromosome critical region. We performed high resolution SNP microarray to characterize the breakpoints. Case report Our patient had several typical features for PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet and food seeking but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age. He had seizures noted from 1 to 3 years of age and marked cognitive delay. Results High resolution SNP microarray analysis identified an atypical PWS Type I deletion of chromosome 15 involving proximal breakpoint BP1. The deletion extended beyond the GABRB3 gene but was proximal to the usual distal breakpoint (BP3) within the 15q11-q13 region and GABRA5, GABRG3 and OCA2 genes were intact. Conclusion We report a case with atypical features for PWS associated with an unbalanced de-novo reciprocal translocation resulting in monosomy for the 15q11.1–15q12 with intact GABRA5, GABRG3 and OCA2 genes. No deletion of 19p13.3 band was detected therefore the patient was not at an increased risk of tumors from Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. PMID:27894106

Tänane Tartu - naerud, nutud ja hernetondid = Tartu today - laughter, tears and scarecrows / Berk Vaher

Index Scriptorium Estoniae

Vaher, Berk, 1975-

2006-01-01

Tartu linnaruumist, selle teisenemistest. Eduard Tubina mälestusmärgist (skulptor Aili Vahtrapuu, arhitekt Veronika Valk, heli: Louis Dandrel), Tartu Kaubamajast (arhitekt Raivo Puusepp), Rüütli tänava kujundusest (Rene Valner, Ott Kadarik), Ülikooli tänavast. 5 värv. ill

Sünnitades "Ema ja tütart" / Anna Hints

Index Scriptorium Estoniae

Hints, Anna, 1982-

2010-01-01

Tartu sünnitusmajale Toomemäel, naise eluringile ja põlvkondade järjepidevusele pühendatud "Ema ja tütar" kui koha, heli, foto ja rituaalse tegevuse koostoimel sündinud autori tajuvõrgustikku dekodeeriv pärimusliku ja isikliku taustaga kunstitöö

Juba teine "1+1 = 1"

Index Scriptorium Estoniae

2004-01-01

15. III Okupatsioonimuuseumis toimuva "1+1=1" teise ürituse kavast. Presentatsioonide õhtu keskendub konkreetse ruumikogemuse vahendamisele kunstis (helis, slaidi-installatsioonis, tänava-aktsioonis, skulptuuris, videos, filmis). Esinevad Cevdet Erek, Andres Lõo, Andres Kurg (arhitektuur ja interjöörid Marko Raadi filmis "Agent Sinikael") jt.

THE MILITARY GLIDER REVISITED

African Journals Online (AJOL)

briefest life span of any major military equipment type - spanning not ... that country. The disadvantages of this to PLAN ... increasingly hamper the employment of heli- .... time, both attack and medium helicopters could .... balance out his armoured superiority and to im- ... derable flexibility to our operations and enhance.

Ilves viskas koos Bedwettersiga näppu. President Ilves kohtus õpilaste ja kaitseliitlastega / Eno-Gerrit Link

Index Scriptorium Estoniae

Link, Eno-Gerrit

2007-01-01

Münchenis MTV Euroopa muusikaauhindade jagamisel Uue Euroopa Heli kategoorias lauluga "Dramatic Letter to Conscience"esikoha võitnud Pärnu pop-punkbändist Bedwetters ja president Toomas Hendrik Ilvese Pärnu Sütevaka humanitaargümnaasiumi ja Kaitseliidu Pärnumaa maleva külastusest 9. novembril

NEW BEDFORD, FINAL WETLAND STUDY REPORT (08/10/88 TRANSMITTAL LETTER IS ATTACHED), 06-01-1988, SDMS# 51717

Science.gov (United States)

2013-06-11

... U 4 i' Hilli,i! J4 . Diu'it.i: nJl:iut..i.on Heli-sri Waldorf ... 'I . i 1! . i! li;i:iv I nciiiiiniiji t iil^Ji::'!! ii.iii:| nia I ILIIIII; Fn-'/ i ciiiiii I ii\\ re ;; i: i (! ii t I ciiin.!! ...

Prantslastelt õppimas / Marve Koppel, Heli Leppik

Index Scriptorium Estoniae

Koppel, Marve

2005-01-01

Kuressaare ametikoolis järgmisel õppeaastal rakenduvast majutuskorralduse eriala õppekavast, mille koostamisel on eeskujuks võetud Prantsuse hotellikooli Lycee d'Hotellerie et de Tourisme Saint-Quentin-en-Yvelines õppekava

Aardejahil Luke mõisapargis / Heli Raamets

Index Scriptorium Estoniae

Raamets, Heli, 1975-

2008-01-01

Lühidalt Luke mõisa ajaloost, omanikest ja mõisaansamblist. Terrasside ja taastatud tiikidesüsteemiga pargist. Külastuskeskusest arhitekt Eva Laarmanni projekti järgi rekonstrueeritud puitpitsiga kärnerimajas. Veenuse kuju taastas firmas Kar-Grupp Tallinnas. SA Luke Mõis juhatuse liige Gea Järvela Luke tulevikuplaanidest. Mõisasüdame makett, 12 värv. vaadet

Kohtumine minevikus pilguga tulevikku / Heli Susi

Index Scriptorium Estoniae

Susi, Heli, 1929-

2009-01-01

Reisist Moskvasse detsembris 2008 A. Solženitsõni 90. sünniaastapäevale pühendatud näituse avamisele. Näituse "Eesti saar Gulagi arhipelaagis" koostas ajakirja Вышгород peatoimetaja Ljudmila Gluškovskaja koostöös fondiraamatukoguga Русское Зарубежье. 25. märtsil 2009 avati sama näitus Eesti Rahvusraamatukogus

Uus isikuandmete kaitse seadus / Heli Naeris

Index Scriptorium Estoniae

Naeris, Heli

2008-01-01

1. jaan. 2008 jõustunud isikuandmete kaitse seadusest, mis sätestab isikuandmete töötlemise tingimused ja korra, riikliku järelevalve teostamise korra isikuandmete töötlemisel ja vastutuse isikuandmete töötlemise nõuete rikkumise eest

Eristumine on edu pant / Heli Raamets

Index Scriptorium Estoniae

Raamets, Heli, 1975-

2013-01-01

Turustamine on raskem kui tootmine, kuid selle juures on abiks eristumine - nii väidab Taarapõllu talu peremees Edgar Kolts. Väikeettevõtja valmistab kohapeal mahedalt kasvatatud aia- ja metsasaadustest moose, mahlu, marjakrõpse, marjajahusid, mahlajooke jne

Valik konkursi "Noored poeedid 2009" alapealkirjaga "See on rõõm elust endast" tunnustust pälvinud töödest : [luuletused

Index Scriptorium Estoniae

2009-01-01

Vanem vanuseaste 1. koht Triin Sepp, 2. koht Triinu Ansper, 3.-4. koht Kairi Sepp ja Heli Armus. Keskmine vanuseaste 1. koht Annaliis Lehto, 2. koht Liina Salonen, 3. koht Gerda-Liis Palmiste. Noorem vanuseaste 1. koht Reet Rüütel, 2. koht Diana Kasesalu, 3. koht Eliis Mets

Conformational Preferences of Amphibian Peptides Brevinin-Ya and ...

African Journals Online (AJOL)

NICO

180 to 180) in its Phi angle (C-N-C~-C), while its Psi angle. (N-C~-C-N) remains relatively fixed (–100), adopting theД-sheet conformation. The transformation of initial right-handed~-heli- cal (~R) configuration of Asn11 into Д-sheet after ~20 ns of.

Lühifilmide lühifestivalil Sõpruses uued tudengifilmid

Index Scriptorium Estoniae

2008-01-01

Sõpruse kinos toimuvast lühifilmide festivalist 29. augustil, kus eriprogrammis "Tuliuued tudengifilmid" näeb Margus Paju ("Hargnevate teede aed"), Age Viksi ("Pealpool pilvi"), Mart Rauna ("Mehele parim"), Martin Ruusi ("Heli Mäeorg"), Joosep Matjuse ("Uuestisünd") ja Tanno Mee ("Mälestuste maja") lühifilme

Kurtna keskusehoone renoveerimine = Renovation of the Kurtna center building / Epp Lankots

Index Scriptorium Estoniae

Lankots, Epp, 1976-

2005-01-01

Saku vallas Kurtna külas asuva Kurtna Linnukasvatuse Katsejaama peahoone (arhitekt Valve Pormeister, sisearhitektid Vello Asi ja Väino Tamm, 1965-66) pieteeditundelisest renoveerimisest hotelliks. Arhitektid: Heli Ernesaks, Katrin Rannik. Halvast ja odavast interjöörikujundusest. Ill.: 3 värv. välis- ja 3 sisevaadet

Kuidas Adolf Hitler vahetult enne valimisi Püssirohukeldrisse jõuab / Agni Lass

Index Scriptorium Estoniae

Lass, Agni

2005-01-01

10. sept. esietendub Tartu Püssirohukeldris P. Uttoni "Adolf", mille M. Unt pidi lavastama. Kuid proovideni ta ei jõudnud. See etendub E. Õunapuu käe all, kes tegi M. Undi lavavariandi ümber. Heli- ja lavakujundus ning kostüümid on samuti E. Õunapuult

Enhanced FAA-hybrid III numerical dummy model in Madymo for aircraft occupant safety assessment

NARCIS (Netherlands)

Boucher, H.; Waagmeester, C.D.

2003-01-01

To improve survivability and to minimize the risk of injury to occupants in helicopter crash events, a complete Cabin Safety System concept including safety features and an enhanced FAA-Hybrid III dummy were developed within the HeliSafe project. A numerical tool was also created and validated to

True single-molecule DNA sequencing of a pleistocene horse bone

DEFF Research Database (Denmark)

Orlando, Ludovic Antoine Alexandre; Ginolhac, Aurélien; Raghavan, Maanasa

2011-01-01

-preserved Pleistocene horse bone using the Helicos HeliScope and Illumina GAIIx platforms, respectively. We find that the percentage of endogenous DNA sequences derived from the horse is higher among the Helicos data than Illumina data. This result indicates that the molecular biology tools used to generate sequencing...

Homage to Jean Teillac

International Nuclear Information System (INIS)

Matteoli, J.; Dermagne, J.; Rouvillois, Ph.; Baleras, R.; Dautray, R.; Detraz, C.; Yoccoz, J.; Curien, H.; Rebut, P.H.; Caristan, Y.; Wallard, H. E.

1997-01-01

On the 10 November 1994 has taken place, to the 'Conseil economique et social', a ceremony in homage to the professor Jean Teillac, organized by: the' Conseil economique et social' (the president Jean Matteoli) the'Commissariat a l'energie atomique' (the general Administrator Philippe Rouvillois, the High - Commissioner Robert Dautray) The National center of the scientific research(CNRS) the national physics institute of particles (the Director Claude Detraz) The University of Pierre et Marie Curie Paris 6 (the President Jean-Claude Legrand). (N.C.)

Ação dos extratos de quatro plantas sobre larvas infectantes de nematódeos gastrintestinais de ovinos

OpenAIRE

Hassum, Izabella Cabral; Venturi, Caroline Rita; Gosmann, Grace; Deiro, Ana M. Girardi

2013-01-01

Introdução: a ação de extratos hidroalcoólicos de Eugenia uniflora L. (pitangueira), Mentha x piperita L. (hortelã), Myrcianthes pungens (O. Berg) D. Legrand (guabiju) e Peltophorum dubium (Spreng.) Taub. (canafístula) foi avaliada sobre o desenvolvimento de nematódeos gastrintestinais nas coproculturas de ovinos. Objetivo: avaliar a ação in vitro dos extratos vegetais sobre os nematódeos gastrintestinais de ovinos. Métodos: cada extrato foi testado em culturas triplicadas de fezes nas seguin...

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

Science.gov (United States)

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

2012-07-01

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

NCBI nr-aa BLAST: CBRC-STRI-01-2632 [SEVENS

Lifescience Database Archive (English)

Full Text Available CBRC-STRI-01-2632 ref|NP_001029470.1| non imprinted in Prader-Willi/Angelman syndro...me 2 [Bos taurus] sp|Q3SWX0|NIPA2_BOVIN RecName: Full=Magnesium transporter NIPA2; AltName: Full=Non-imprint...ed in Prader-Willi/Angelman syndrome region protein 2 homolog gb|AAI04628.1| Non imprinted in Prader-Willi/Angelman syndrome 2 [Bos taurus] NP_001029470.1 1e-140 88% ...

Understanding Spatially Complex Segmental and Branch Anatomy Using 3D Printing: Liver, Lung, Prostate, Coronary Arteries, and Circle of Willis.

Science.gov (United States)

Javan, Ramin; Herrin, Douglas; Tangestanipoor, Ardalan

2016-09-01

Three-dimensional (3D) manufacturing is shaping personalized medicine, in which radiologists can play a significant role, be it as consultants to surgeons for surgical planning or by creating powerful visual aids for communicating with patients, physicians, and trainees. This report illustrates the steps in development of custom 3D models that enhance the understanding of complex anatomy. We graphically designed 3D meshes or modified imported data from cross-sectional imaging to develop physical models targeted specifically for teaching complex segmental and branch anatomy. The 3D printing itself is easily accessible through online commercial services, and the models are made of polyamide or gypsum. Anatomic models of the liver, lungs, prostate, coronary arteries, and the Circle of Willis were created. These models have advantages that include customizable detail, relative low cost, full control of design focusing on subsegments, color-coding potential, and the utilization of cross-sectional imaging combined with graphic design. Radiologists have an opportunity to serve as leaders in medical education and clinical care with 3D printed models that provide beneficial interaction with patients, clinicians, and trainees across all specialties by proactively taking on the educator's role. Complex models can be developed to show normal anatomy or common pathology for medical educational purposes. There is a need for randomized trials, which radiologists can design, to demonstrate the utility and effectiveness of 3D printed models for teaching simple and complex anatomy, simulating interventions, measuring patient satisfaction, and improving clinical care. Copyright © 2016 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

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.

Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

Science.gov (United States)

Lukoshe, Akvile; Hokken-Koelega, Anita C; van der Lugt, Aad; White, Tonya

2014-01-01

Prader-Willi Syndrome (PWS) is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL), 12 with maternal uniparental disomy (mUPD)) and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI) was obtained using the FreeSurfer software suite. Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to alterations in gene networks that play a prominent role in

GrowthHormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome.

Science.gov (United States)

Deal, Cheri L; Tony, Michèle; Höybye, Charlotte; Allen, David B; Tauber, Maïthé; Christiansen, Jens Sandahl

2013-06-01

Recombinant human GH (rhGH) therapy in Prader-Willi syndrome (PWS) has been used by the medical community and advocated by parental support groups since its approval in the United States in 2000 and in Europe in 2001. Its use in PWS represents a unique therapeutic challenge that includes treating individuals with cognitive disability, varied therapeutic goals that are not focused exclusively on increased height, and concerns about potential life-threatening adverse events. The aim of the study was to formulate recommendations for the use of rhGH in children and adult patients with PWS. We performed a systematic review of the clinical evidence in the pediatric population, including randomized controlled trials, comparative observational studies, and long-term studies (>3.5 y). Adult studies included randomized controlled trials of rhGH treatment for ≥ 6 months and uncontrolled trials. Safety data were obtained from case reports, clinical trials, and pharmaceutical registries. Forty-three international experts and stakeholders followed clinical practice guideline development recommendations outlined by the AGREE Collaboration (www.agreetrust.org). Evidence was synthesized and graded using a comprehensive multicriteria methodology (EVIDEM) (http://bit.ly.PWGHIN). Following a multidisciplinary evaluation, preferably by experts, rhGH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental, and lifestyle interventions. Cognitive impairment should not be a barrier to treatment, and informed consent/assent should include benefit/risk information. Exclusion criteria should include severe obesity, uncontrolled diabetes mellitus, untreated severe obstructive sleep apnea, active cancer, or psychosis. Clinical outcome priorities should vary depending upon age and the presence of physical, mental, and social disability, and treatment should be continued for as long as demonstrated benefits outweigh the risks.

Художники ходят по крышам домов / Ханно Соанс

Index Scriptorium Estoniae

Соанс, Ханно, 1974-

2010-01-01

Näitusest "Linna kohal" Tallinna Linnagaleriis. Teemaks on linnamajade katusepindade kasutuselevõtt. Kuraatorid Kadri Klementi ja Helis Heiter. Töödest näitusel. Osalevad: Anu Vahtra — Tallinna Kunstihoone, Claudia Doms ja Mikk Heinsoo — Saku Suurhall, Timo Toots — Lennujaam, Marit Ilison — Telliskivi Loomelinnak, Johnson & Johnson — Postimaja

Lasva veetorn = Lasva Water Tower / Margit Mutso

Index Scriptorium Estoniae

Mutso, Margit, 1966-

2010-01-01

Lasva veetorni rekonstrueerimisest klavertrepiga kunstigaleriiks-vaatetorniks. Arhitekt, idee autor Veronika Valk, kaasautor Kadri Klementi, klavertrepi teostus: Kalle-Priit Pruuden, trepi elektrooniline heli: Kalle Tikas, infostendid: Peeter Laurits. Žürii liige Kalle Komissarov žürii hinnangust EK arhitektuuri sihtkapitali 2009. a. väikeobjekti preemia pälvinud hoonele

Moodsad ajad vanas majas : Raekoja 1975. aasta sisekujundus = Modern Times at an Old Building : 1975 Interior Design of Tallinn Town Hall / Kai Lobjakas

Index Scriptorium Estoniae

Lobjakas, Kai, 1975-

2004-01-01

1973. a. Tallinna Raekojale uue sisekujunduslahenduse saamiseks korraldatud kutsutud konkursi võitis töö Annunciation, mille põhiautoriks oli Leila Pärtelpoeg, kaasautoriteks Aate-Heli Õun, Anu Raud, Ilme-Anu Neemre. Tööd jätkas Leila Pärtelpoeg koos Udo Umbergiga. Rippvaipade galerii autor Valve Ilveste

Muusika / Priit Kuusk

Index Scriptorium Estoniae

Kuusk, Priit, 1938-

2005-01-01

EFK salvestab Pärdi "Miserere", "Salve Regina", Nunc dimittis" ja "Littlemore tractus". Georg Otsa nimelise fondi moodustamisest. Pärimusmuusika Lõikuspeost. 24. - 29. IX esineb Eestis Kieli poistekoor. 15. IX avas peadirigent Olari Elts oma Läti Rahvusliku Sümfooniaorkestri uue hooaja. Heli Veskus on kutsutud esinema Läti Rahvusooperi galakontserdile

Bedwetters esineb tänutuuri raames Rakveres

Index Scriptorium Estoniae

2007-01-01

Münchenis MTV Euroopa muusikaauhindade jagamisel Uue Euroopa Heli kategoorias lauluga "Dramatic Letter to Conscience"esikoha võitnud Pärnu pop-punkbändist Bedwetters (kontsert 30. nov. Rakveres, soojendusbändiks Driven, koostöös MTVga korraldatavaid kontsertõhtuid juhivad MTV VJd Martin Veismann ja Piret Järvis)

Küla arengukava on külaarengu toetuse saamiseks vajalik / Ain Lember

Index Scriptorium Estoniae

Lember, Ain

2004-01-01

Liikumine Kodukant kavatseb esitada põllumajandusministeeriumile protestikirja, kuna ei nõustu ministeeriumi infopäevadel levitatava tõlgendusega nagu võiks külade taastamise ja arendamise meetme toetust taotleda ka ilma küla arengukavata. Arvamust avaldavad: Maris Ode, Lemmi Maasik, Heli Raamets, Marek Raud ja Sille Rähn

Interventional therapy of traumatic pseudoaneurysms in internal carotid artery siphon

International Nuclear Information System (INIS)

Tang Jun; Shang Jianqiang; Chen Jie; Li Fengxin; Liu Yanjun

2007-01-01

Objective: To determine the methods and results of treating traumatic pseudoaneurysms in siphon segment of internal carotid artery (ICA)by interventional therapy. Methods: Twelve cases of traumatic pseudoaneurysms in siphon segment of internal carotid artery were treated. The collateral circulation of Willis circle was observed after DSA. Different methods of treatment were applied according to the collateral circulation of Willis circle. Ten cases were treated by occlusion of ICA completely, 1 case was embolized by guglielmi detachable coil (GDC) only. Results: Nine of 12 treated by occlusion of ICA were cured. In the 3 cases who had poor collateral of Willis circle, one was cured by GDC embolization alone; one died 48 hours later after ICA occlusion though his consciousness and the activity of extremities were normal during the temporary balloon test occlusion (BTO) of ICA. One died during the training to improve the collateral of the Willis circle. Conclusion: ICA embolization is feasible for treatment of traumatic pseudoaneurysms in siphon segment of internal carotid artery after evaluating the collateral circulation of Willis circle. (authors)

Tigutorn = The Snail Tower / Margit Mutso

Index Scriptorium Estoniae

Mutso, Margit, 1966-

2010-01-01

Tartus Väike-Turu 5 asuva Tigutorni arhitektuursest lahendusest. Maja alumisel korrusel on äriruumid, ülemistel korrustel korterid. Arhitektid Vilen Künnapu, Ain Padrik, kaasautorid Kristiina Hussar, Kerli Koolma (AB Künnapu & Padrik). Üldruumide kujundus: Heli Eensalu, Sulev Vahtra. Žürii liikme Kalle Komissarovi hinnang kultuurkapitali aastapreemiale esitatud hoonele

Commando Raids: 1946-1983.

Science.gov (United States)

1985-10-01

then released, allowing the "barrel bomb" to roll free of the truck, jump the barbed -wire fences surrounding the headquarters, and roll across the...approxi- mately 250 miles south of Teheran. Eight RH-53D "Sea Stallion " heli- copters simultaneously took off from the aircraft carrier Nimitz in the

Appraising the plasticity of the circle of Willis: a model of hemodynamic modulation in cerebral arteriovenous malformations.

Science.gov (United States)

Chuang, Yu-Ming; Guo, Wanyuo; Lin, Ching-Po

2010-01-01

Cerebral arteriovenous malformations (AVMs) harbor a network of abnormal vasculatures, namely the nidus between arterial and venous components. The pressure gradient between these two components results in abnormal high-velocity arteriovenous shunts flowing through the nidus and alternate intracranial hemodynamics. This study hypothesizes that the flow patterns of the circle of Willis (CoW) are modulated by the alternation of intracranial hemodynamics occurring in cerebral AVMs. The flow patterns of the CoW before and after AVMs had been corrected and the arteriovenous shunts closed by radiosurgery were assessed to validate the hypothesis. Fifty patients (32 men and 18 women; mean age 35.8 +/- 4.2, range 23-52 years) with cerebral AVMs previously treated by radiosurgery were retrospectively investigated. This investigation used magnetic resonance angiography, performed prior to and after AVM surgery, to assess the CoW flow patterns. The CoW flow patterns in nearly half of the subjects (20/50, 40%) altered after the AVMs had been corrected. The alterations included: (1) decreased size or ceased flow patterns in the CoW vascular segment: ipsilateral A1 (n = 1) of the anterior cerebral artery (ACA), ipsilateral posterior communicating artery (PCoA) segment (n = 7), contralateral PCoA collateral (n = 4), bilateral PCoA (n = 2); (2) increased size or opening of the previous 'hypoplastic' segment of CoW: ipsilateral A1 of ACA (n = 1), contralateral PCoA (n = 2), bilateral PCoA (n = 1), and (3) biphasic alteration of the CoW: ceased ipsilateral PCoA segment and opening ipsilateral A1 of the ACA (n = 1), ceased ipsilateral PCoA and opening contralateral P1 of the posterior cerebral artery (n = 1). The plasticity of the flow patterns in the CoW are modulated by intracranial hemodynamics as shown by the AVM model. The calibers of CoW arterial segments are not a static feature. Willisian collateralization with recruitment of the CoW segment may cease, or hypoplastic segments

Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.

Science.gov (United States)

Lassi, Glenda; Priano, Lorenzo; Maggi, Silvia; Garcia-Garcia, Celina; Balzani, Edoardo; El-Assawy, Nadia; Pagani, Marco; Tinarelli, Federico; Giardino, Daniela; Mauro, Alessandro; Peters, Jo; Gozzi, Alessandro; Grugni, Graziano; Tucci, Valter

2016-03-01

Sleep-wake disturbances are often reported in Prader-Willi syndrome (PWS), a rare neurodevelopmental syndrome that is associated with paternally-expressed genomic imprinting defects within the human chromosome region 15q11-13. One of the candidate genes, prevalently expressed in the brain, is the small nucleolar ribonucleic acid-116 (SNORD116). Here we conducted a translational study into the sleep abnormalities of PWS, testing the hypothesis that SNORD116 is responsible for sleep defects that characterize the syndrome. We studied sleep in mutant mice that carry a deletion of Snord116 at the orthologous locus (mouse chromosome 7) of the human PWS critical region (PWScr). In particular, we assessed EEG and temperature profiles, across 24-h, in PWScr (m+/p-) heterozygous mutants compared to wild-type littermates. High-resolution magnetic resonance imaging (MRI) was performed to explore morphoanatomical differences according to the genotype. Moreover, we complemented the mouse work by presenting two patients with a diagnosis of PWS and characterized by atypical small deletions of SNORD116. We compared the individual EEG parameters of patients with healthy subjects and with a cohort of obese subjects. By studying the mouse mutant line PWScr(m+/p-), we observed specific rapid eye movement (REM) sleep alterations including abnormal electroencephalograph (EEG) theta waves. Remarkably, we observed identical sleep/EEG defects in the two PWS cases. We report brain morphological abnormalities that are associated with the EEG alterations. In particular, mouse mutants have a bilateral reduction of the gray matter volume in the ventral hippocampus and in the septum areas, which are pivotal structures for maintaining theta rhythms throughout the brain. In PWScr(m+/p-) mice we also observed increased body temperature that is coherent with REM sleep alterations in mice and human patients. Our study indicates that paternally expressed Snord116 is involved in the 24-h regulation of

Restless Legs Syndrome/Willis-Ekbom Disease Is Prevalent in Working Nurses, but Seems Not to Be Associated with Shift Work Schedules.

Science.gov (United States)

Waage, Siri; Pallesen, Ståle; Moen, Bente Elisabeth; Bjorvatn, Bjørn

2018-01-01

Insomnia and excessive sleepiness are among the most commonly reported sleep problems related to shift work. Sleep-related movement disorders have, however, received far less attention in relation to such work schedules. The objective of this study was to investigate the association between different shift work schedules and the prevalence of Restless legs syndrome/Willis-Ekbom disease (RLS/WED) in a large sample of Norwegian nurses. Our hypothesis was that shift working nurses would report higher prevalence of RLS/WED compared to day workers. A total of 1,788 nurses with different work schedules (day work, two-shift rotation, night work, three shift rotation) participated in a cohort study, started in 2008/2009. Four questions about RLS/WED based on the diagnostic criteria were included in wave 4 (2012). RLS/WED prevalence rates across different shift schedules were explored by the Pearson chi-square test. Logistic regression analysis was used to assess the association between RLS/WED and work schedules and shift work disorder (SWD) with adjustment for sex, age, marital status, smoking, and caffeine use. In total, 90.0% of the nurses were females, mean age 36.5 years (SD = 8.6, range 25-67). The overall prevalence of RLS/WED was 26.8%. We found no significant differences between the prevalence of RLS/WED across the different shift schedules, ranging from 23.3% (day work) to 29.4% (night work). There was a significant difference ( p  shift work also are sensitive to other complaints related to a misalignment of the biological clock.

Koolitusfirmade TOP aastal 2007

Index Scriptorium Estoniae

2008-01-01

Koolitusfirmade TOP. Vt. samas: Käibe TOP 10; Käibekasvu TOP 10; Kasumi TOP 10; Kasumi kasvu TOP 10; Rentaabluse TOP 10; Omakapitali tootlikkuse TOP 10; Signe Sillasoo. Invicta tahab lähiaastail laieneda Eestis ja mujalgi; Ketlin Priilinn. Addenda kasutas ära majanduse soodsa seisu. Kommenteerib Heli Sõmer. Juhtide hoiakute muutmisega tõus esikolmikusse

Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults

Directory of Open Access Journals (Sweden)

Katherine E. Manning

2018-01-01

Full Text Available Prader-Willi syndrome (PWS is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported. This study aimed to investigate, in detail, the structure of grey matter and cortex in the brain in a sample of young adults with PWS in a well-matched case-controlled analysis. 20 young adults with PWS, aged 19–27 years, underwent multiparameter mapping magnetic resonance imaging sequences, from which measures of grey matter volume, cortical thickness and magnetisation transfer saturation, as a proxy measure of myelination, were examined. These variables were investigated in comparison to a control group of 40 typically developing young adults, matched for age and sex. A voxel-based morphometry analysis identified large and widespread bilateral clusters of both increased and decreased grey matter volume in the brain in PWS. In particular, widespread areas of increased volume encompassed parts of the prefrontal cortex, especially medially, the majority of the cingulate cortices, from anterior to posterior aspects, insula cortices, and areas of the parietal and temporal cortices. Increased volume was also reported in the caudate, putamen and thalamus. The most ventromedial prefrontal areas, in contrast, showed reduced volume, as did the parts of the medial temporal lobe, bilateral temporal poles, and a small cluster in the right lateral prefrontal cortex. Analysis of cortical structure revealed that areas of increased volume in the PWS group were largely driven by greater cortical thickness. Conversely, analysis of

Grey matter volume and cortical structure in Prader-Willi syndrome compared to typically developing young adults.

Science.gov (United States)

Manning, Katherine E; Tait, Roger; Suckling, John; Holland, Anthony J

2018-01-01

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder of genomic imprinting, presenting with a characteristic overeating disorder, mild to moderate intellectual disability, and a variable range of social and behavioral difficulties. Consequently, widespread alterations in neural structure and developmental and maturational trajectory would be expected. To date, there have been few quantitative and systematic studies of brain morphology in PWS, although alterations of volume and of cortical organisation have been reported. This study aimed to investigate, in detail, the structure of grey matter and cortex in the brain in a sample of young adults with PWS in a well-matched case-controlled analysis. 20 young adults with PWS, aged 19-27 years, underwent multiparameter mapping magnetic resonance imaging sequences, from which measures of grey matter volume, cortical thickness and magnetisation transfer saturation, as a proxy measure of myelination, were examined. These variables were investigated in comparison to a control group of 40 typically developing young adults, matched for age and sex. A voxel-based morphometry analysis identified large and widespread bilateral clusters of both increased and decreased grey matter volume in the brain in PWS. In particular, widespread areas of increased volume encompassed parts of the prefrontal cortex, especially medially, the majority of the cingulate cortices, from anterior to posterior aspects, insula cortices, and areas of the parietal and temporal cortices. Increased volume was also reported in the caudate, putamen and thalamus. The most ventromedial prefrontal areas, in contrast, showed reduced volume, as did the parts of the medial temporal lobe, bilateral temporal poles, and a small cluster in the right lateral prefrontal cortex. Analysis of cortical structure revealed that areas of increased volume in the PWS group were largely driven by greater cortical thickness. Conversely, analysis of myelin content using

Does timbre affect pitch?: Estimations by musicians and non-musicians / Allan Vurma, Marju Raju, Annika Kuuda

Index Scriptorium Estoniae

Vurma, Allan, 1955-

2011-01-01

Muusikutel ja mittemuusikutel lasti kuulata lindilt inimhääle, vioola ja trompetihelisid ning hinnata järgmisena kõlanud helikatket võrreldes eelmisega kas "madalaks", "kõrgeks" või "hääles". Leiti, et tämbrist mõjutatud helikõrguse muutused võivad tekitada konflikti subjektiivse tunnetamise ja fundamentaalsel võnkesagedusel põhineva heli hindamise vahel

Ergutavad, lohutavad ja ravivad värvid / Jana Rand

Index Scriptorium Estoniae

Rand, Jana, 1963-

2005-01-01

Altmõisa puhkemaja Läänemaal Tuuru külas. Hoone sisekujunduse on teinud Heli Tuksam, abiks olid kunstnikud Piret Veski ja Tuuli Puhvel ning Tartu Kõrgema Kunstikooli üliõpilased. Toad on kujundatud erinevates värvitoonides. Fuajees on mosaiikpõrand. Kasutatud ökoloogilisi ehitus- ja viimistlusmaterjale. Ill.: välisvaade 7 sisevaadet, värv.

Ilo Pariisi varjus / Kaia Sisask

Index Scriptorium Estoniae

Sisask, Kaia

2003-01-01

Portreefilm Pariisis giidina töötavast kirjanik Juhan Jaigi tütrest Ilo Jaik-Riedbergist "Ilo Pariisis" : stsenarist ja režissöör Peep Puks : operaatorid Arvo Vilu, Ago Ruus, Heli Arvo Vilu, Henn Liiva, Jüri Vaher : teksti loeb Anu Lamp : muusikaline kujundus Merike Vaino : filmi direktor Maie Kerma : Pro-Film 2002

Areeni kultuuripreemiad 2007

Index Scriptorium Estoniae

2008-01-01

Areeni kultuuripreemiad 2007 nominentide seas ansambel 3 Pead (heliplaatidega "Ilusaim heli" ja "Taevaluugid"), näitleja ja laulja Kärt Johanson (albumiga "Unistadt"), Ahto-Lembit Lehtmets ja ansambel Loits (heliplaadiga "Must album"). Hääletada saab meiliaadressil preemia &ekspress.ee, veebiküljel http://www.ekspress.ee/preemia (50 000 kroonine preemia antakse üle 2. aprillil)

Elada vabana või surra = To live free or to die / Raul Keller

Index Scriptorium Estoniae

Keller, Raul, 1973-

2015-01-01

Näitusest "Vaikus on kuldne. Ilmar Laaban ja eksperimendid helis ning keeles" Kumu kunstimuuseumis. Näitus annab ülevaate keelega ja heliga-häälega tehtud kunstilistest eksperimentidest 20. sajandi algusest tänapäevani. Esindatud on kõlaluule rahvusvahelised pioneerid (nende hulgas Ilmar Laaban) ning Eesti kaasaegsed kõlapoeedid Jaan Malin ja Roomet Jakapi

Алиса в Заэстонье / Николай Караев

Index Scriptorium Estoniae

Караев, Николай, 1978-

2010-01-01

„Alice" on omanäoline live perfomance, mis koosneb kaasaegsest koreograafiast, originaalsest autorimuusikast, kunstilisest videost, traditsioonilisest animatsioonist, VJ setist ja varjude teatrietendusest. Lavastuse autoriteks on MTÜ Fat Snail, MTÜ Vastik Sipsik, MTÜ HeliTelg, Olga Privis ja Aleksandr Žedeljov. Lavastus põhineb Lewis Carrolli teosel „Alice Imedemaal", kuid pole otseselt autori tekstide ümberjutustus

Skaalanihe : kunstnikud räägivad / Hanno Soans

Index Scriptorium Estoniae

Soans, Hanno, 1974-

2006-01-01

Kunstnikud tutvustavad Kumus avanäitusel eksponeeritud kunstiteoseid: Anssi Kasitonni "Jah-monstrum", Chris Evans "Radikaalne lojaalsus", Neeme Külm "Betooni valatud lehm", Cevdet Erek "Teine sild", Heli Ryhänen "Ootus", Hans Hammert "Õhupallikabel", Veronica Brovall "Lahutus", Karsten Konrad "Supersuziseacat", Anders Krüger "Mis silma alt ära, see unustatud", Tommy Stockel "Tulevaste asjade kuju"

Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

Science.gov (United States)

Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

2016-05-01

Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Valjala kiriku orel kõlab / Heli Salong

Index Scriptorium Estoniae

Salong, Heli, 1958-

2004-01-01

Valjala Püha Martini kiriku Gustav Normanni valmistatud ja Ago Tindi põhjalikult remonditud oreli taaspühitsemisest piduliku kontsert-jumalateenistusega 10. nov., külalisesinejaks saksa organist ja orelimeister Martin ter Haseborg

Kõrgharidus on loomult ebavõrdne / Heli Aru

Index Scriptorium Estoniae

Aru, Heli

2007-01-01

OECD ekspertide hinnangust, mille kohaselt pööratakse Eestis õppurite võimaluste võrdsusele ebaproportsionaalselt vähe tähelepanu, ning ekspertide soovitustest. Autor, OECD projekti Eesti koordinaator leiab, et üldise osalise õppemaksu kehtestamine on väga pragmaatiline. Vt. samas: Rein Raud. Võrdselt haritud või võrdselt võlgu? Küsitlus: kuidas vähendada ebavõrdsust kõrghariduses? Vastavad Maris Mälzer, Madis Habakuk ja Tõnis Lukas

Sotsiaalteenuste kvaliteedi hindamine ja kontroll / Heli Tooman

Index Scriptorium Estoniae

Tooman, Heli, 1949-

2002-01-01

Uurimisprojekti "Sotsiaalteenuste vajadus ja kasutamine - territoriaalsed, sotsiaalsed ja kultuurilised erinevused" raames katsetati SERVQUAL meetodit sotsiaalteenuste kvaliteedi mõõtmiseks Pärnu ja Narva sotsiaalasutustes. Tabelid. Bibliogr.

Ene Sepp esitles esikteost "Medaljon" / Heli Talinurm

Index Scriptorium Estoniae

Talinurm, Heli

2009-01-01

Ene Sepp esitles 19. veebruaril Rapla Keskraamatukogus oma raamatut, mis pälvis kolmanda koha Eesti Lastekirjanduse Teabekeskuse ja kirjastuse Tänapäev 2008. aasta noorsooromaani võistlusel. Ly Ehini mõtteid, mida Ene Sepa raamat temas tekitas

Reduced cortical complexity in children with Prader-Willi Syndrome and its association with cognitive impairment and developmental delay.

Directory of Open Access Journals (Sweden)

Akvile Lukoshe

Full Text Available BACKGROUND: Prader-Willi Syndrome (PWS is a complex neurogenetic disorder with symptoms involving not only hypothalamic, but also a global, central nervous system dysfunction. Previously, qualitative studies reported polymicrogyria in adults with PWS. However, there have been no quantitative neuroimaging studies of cortical morphology in PWS and no studies to date in children with PWS. Thus, our aim was to investigate and quantify cortical complexity in children with PWS compared to healthy controls. In addition, we investigated differences between genetic subtypes of PWS and the relationship between cortical complexity and intelligence within the PWS group. METHODS: High-resolution structural magnetic resonance images were acquired in 24 children with genetically confirmed PWS (12 carrying a deletion (DEL, 12 with maternal uniparental disomy (mUPD and 11 age- and sex-matched typically developing siblings as healthy controls. Local gyrification index (lGI was obtained using the FreeSurfer software suite. RESULTS: Four large clusters, two in each hemisphere, comprising frontal, parietal and temporal lobes, had lower lGI in children with PWS, compared to healthy controls. Clusters with lower lGI also had significantly lower cortical surface area in children with PWS. No differences in cortical thickness of the clusters were found between the PWS and healthy controls. lGI correlated significantly with cortical surface area, but not with cortical thickness. Within the PWS group, lGI in both hemispheres correlated with Total IQ and Verbal IQ, but not with Performance IQ. Children with mUPD, compared to children with DEL, had two small clusters with lower lGI in the right hemisphere. lGI of these clusters correlated with cortical surface area, but not with cortical thickness or IQ. CONCLUSIONS: These results suggest that lower cortical complexity in children with PWS partially underlies cognitive impairment and developmental delay, probably due to

The French market of electrical equipment and installation. Control over energy consumption, environmental law and new markets to be conquered draw perspectives for the sector

International Nuclear Information System (INIS)

2012-12-01

This article presents the content of a market study which aimed at identifying the size and dynamics of the French industry of electrical equipment and installation, at comparing financial performance of equipment manufacturers and of installation major companies, at analysing strategies developed by operators to take benefit of growth opportunities in the field of energy efficiency, at identifying new markets to be conquered, and at anticipating capitalistic evolutions. Fifteen companies are presented and analysed within this perspective: ABB, Alstom, Areva, ETDE, General Electric, GDF Suez, the Energy pole of Eiffage, Legrand, Nexans, Rexel, Schneider Electric, Siemens, Sonepar, Spie, and Vinci Energies