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.

Chris Woodhead: A New Champion of Eugenic Theories

Science.gov (United States)

Chitty, Clyde

2009-01-01

Eugenic Theories are clearly alive and well in present-day society--or this is at least true of those theories relating to the passing on of abilities and talents from one generation to the next. This depressing thought was prompted by a reading of Chris Woodhead's latest book "A Desolation of Learning."

Fine Resolution Air Quality Monitoring from a Small Satellite: CHRIS/PROBA

Directory of Open Access Journals (Sweden)

Man Sing Wong

2008-11-01

Full Text Available Current remote sensing techniques fail to address the task of air quality monitoring over complex regions where multiple pollution sources produce high spatial variability. This is due to a lack of suitable satellite-sensor combinations and appropriate aerosol optical thickness (AOT retrieval algorithms. The new generation of small satellites, with their lower costs and greater flexibility has the potential to address this problem, with customised platform-sensor combinations dedicated to monitoring single complex regions or mega-cities. This paper demonstrates the ability of the European Space Agency’s small satellite sensor CHRIS/PROBA to provide reliable AOT estimates at a spatially detailed level over Hong Kong, using a modified version of the dense dark vegetation (DDV algorithm devised for MODIS. Since CHRIS has no middle-IR band such as the MODIS 2,100 nm band which is transparent to fine aerosols, the longest waveband of CHRIS, the 1,019 nm band was used to approximate surface reflectance, by the subtraction of an offset derived from synchronous field reflectance spectra. Aerosol reflectance in the blue and red bands was then obtained from the strong empirical relationship observed between the CHRIS 1,019 nm, and the blue and red bands respectively. AOT retrievals for three different dates were shown to be reliable, when compared with AERONET and Microtops II sunphotometers, and a Lidar, as well as air quality data at ground stations. The AOT images exhibited considerable spatial variability over the 11 x 11km image area and were able to indicate both local and long distance sources.

On 20 November CERN hosted a symposium to mark the 70th birthday of Chris Llewellyn Smith

CERN Multimedia

Maximilien Brice

2012-01-01

Left to right: (back) Rolf Heuer, Peter Jenni, Lyn Evans, Chris Llewellyn Smith, Steve Cowley, Zehra Sayers, David Gross, Chris Allsopp, Robert Jaffe, Bikash Sinha; (front) Geoffrey West, Álvaro de Rújula, John Ellis.

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...

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 ...

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...

Emerging Perspectives on Editorial Ethics: An Interview with Chris Higgins

Science.gov (United States)

Jackson, Liz

2017-01-01

Chris Higgins took on the roles of Editor of "Educational Theory," and Editor-in-Chief of the "Philosophy of Education Yearbook" published by the Philosophy of Education Society, in 2013, after having been an Associate Editor and Book Review Editor for "Educational Theory" for six years. Higgins worked closely with…

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.

Book Review: Chris Hani: A Jacana Pocket Biography | Smith | New ...

African Journals Online (AJOL)

Book Title: Chris Hani: A Jacana Pocket Biography. Author: Hugh Macmillan. Jacana: Auckland Park, 2014. 152 pp. Full Text: EMAIL FULL TEXT EMAIL FULL TEXT · DOWNLOAD FULL TEXT DOWNLOAD FULL TEXT · AJOL African Journals Online. HOW TO USE AJOL... for Researchers · for Librarians · for Authors · FAQ's ...

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.

Chris Kraus: "Polli päevikud" on minu väga isiklik lugu mu esivanematest / Andres Laasik

Index Scriptorium Estoniae

Laasik, Andres, 1960-2016

2010-01-01

Chris Kraus filmi "Polli päevikud" (Saksamaa-Austria-Eesti) saamisloost. Näitlejatest, Tambet Tuisu osatäitmisest. Film üheks peategelaseks on režissööri vanatädi, luuletaja Oda Saefer. Tegevus toimub Eestis 1914. a. Polli (Põlula) mõis ehitati filmi jaoks üles Matsiranda Varbla lähedal. PÖFF-i EurAsia programmi žürii tunnistas Chris Krausi parimaks režissööriks

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.

ERGO Jazz Session võõrustab Chris Gall Triot. Vennad Urbid ajakohaste lauludega

Index Scriptorium Estoniae

2008-01-01

14. septembril alustab Jazzkaar koostöös ERGO Kindlustusega uut sarja ERGO Jazz Session, mille avaesinejaks on Chris Gall Trio (kontserdid 14. sept.Kumu auditooriumis ja 15. sept. Tartus Athena keskuses). Vendade Urbide kontserdist "Aeg" 13. sept. Vanemuise kontserdimajas

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.

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…

"The Song of the Plants", from Rabbi Nachman from Breslav to Naomi Sherzer

Directory of Open Access Journals (Sweden)

Sarah Kaminski

2016-12-01

Full Text Available In the Jewish tradition, the Tu Bishvat, or “Festivity of the Trees”, at the end of January is the occasion to challenge the harshness of winter, celebrate nature’s vitality and fruitfulness, and to admire the articulate relationship between man and environment. All those aspects, related to the mythical and spiritual concept of the sacredness of the Land of Israel, are rooted in an antique tradition expressed in Deuteronomy: 20, 19 “When thou shalt besiege a city […], thou shalt not destroy the trees”. A similar concept is announced hundreds years later in a mysterious text, called Perek Shira, imbedded as part of the Tu Bishvat synagogue recitation. At the beginning of the 19th century, the famous Hassidic Rebbe, Nachman from Breslav, meditated intensely about the insolvable bonds existing between human being and the plant’s world. In his book Likkutei Moharan he persuades his disciples: “You should know that every plant and plant/ has its own and specific melody”. In the seventies, this Nigun becomes a very popular and beloved song by the talented Israeli chansonnière Naomi Shemer, born in kibbutz Degania, near the Lake of Galilee. The song is sung in public, at the Shabbat table, in religious and secular occasions, embracing biblical memory, spiritual history and a new musical approach.

Super-resolution mapping using multi-viewing CHRIS/PROBA data

Science.gov (United States)

Dwivedi, Manish; Kumar, Vinay

2016-04-01

High-spatial resolution Remote Sensing (RS) data provides detailed information which ensures high-definition visual image analysis of earth surface features. These data sets also support improved information extraction capabilities at a fine scale. In order to improve the spatial resolution of coarser resolution RS data, the Super Resolution Reconstruction (SRR) technique has become widely acknowledged which focused on multi-angular image sequences. In this study multi-angle CHRIS/PROBA data of Kutch area is used for SR image reconstruction to enhance the spatial resolution from 18 m to 6m in the hope to obtain a better land cover classification. Various SR approaches like Projection onto Convex Sets (POCS), Robust, Iterative Back Projection (IBP), Non-Uniform Interpolation and Structure-Adaptive Normalized Convolution (SANC) chosen for this study. Subjective assessment through visual interpretation shows substantial improvement in land cover details. Quantitative measures including peak signal to noise ratio and structural similarity are used for the evaluation of the image quality. It was observed that SANC SR technique using Vandewalle algorithm for the low resolution image registration outperformed the other techniques. After that SVM based classifier is used for the classification of SRR and data resampled to 6m spatial resolution using bi-cubic interpolation. A comparative analysis is carried out between classified data of bicubic interpolated and SR derived images of CHRIS/PROBA and SR derived classified data have shown a significant improvement of 10-12% in the overall accuracy. The results demonstrated that SR methods is able to improve spatial detail of multi-angle images as well as the classification accuracy.

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.

The spectrum of orthopaedics at Chris Hani Baragwanath Academic Hospital

OpenAIRE

Pillay, J; Ramokgopa, MT

2013-01-01

Chris Hani Baragwanath Academic Hospital (CHBAH) is the third largest hospital in the world and is the largest in the Southern hemisphere, serving a population of more than 3.5 million people.¹ The purpose of this review is to identify the orthopaedic-related health events that occur within the population being serviced by the hospital, and in doing so provide a tool to be used for improving orthopaedic-related patient care and outcomes in public health services.² We also took special interes...

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.

Science.gov (United States)

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

Directory of Open Access Journals (Sweden)

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.

Science.gov (United States)

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

Directory of Open Access Journals (Sweden)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Discussing compliance. Summary report from discussions with Robert Bernero and Chris Whipple regarding compliance with the Swedish HLW Regulations from meetings in Stockholm May 3 and 4, 1999

Energy Technology Data Exchange (ETDEWEB)

Jensen, Mikael

1999-06-01

Summary report from discussions with Robert Bernero and Chris Whipple regarding compliance with the Swedish HLW Regulations from meetings in Stockholm. The report also contains bibliographical information and preliminary observations made by Robert Bernero and Chris Whipple.

Discussing compliance. Summary report from discussions with Robert Bernero and Chris Whipple regarding compliance with the Swedish HLW Regulations from meetings in Stockholm May 3 and 4, 1999

International Nuclear Information System (INIS)

Jensen, Mikael

1999-06-01

Summary report from discussions with Robert Bernero and Chris Whipple regarding compliance with the Swedish HLW Regulations from meetings in Stockholm. The report also contains bibliographical information and preliminary observations made by Robert Bernero and Chris Whipple

Birth prevalence of Prader-Willi syndrome in Australia.

Science.gov (United States)

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-.

Science.gov (United States)

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.

Science.gov (United States)

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

L’oeuvre au miroir. Une journée d’Andrei Arsenevitch, Chris Marker

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Luc Vancheri

2009-10-01

Full Text Available Abstract (E: Chris Marker films the last moments of Andrei Tarkovski’s life for the collection
Cinéma, de notre temps. Une jounée d’Andrei Arsenevitch is neither a portrait nor a visual study, but
rather a work of mirroring and reflection. The film is profoundly amicable. It shows, through a series
of poetic figures, the strange bonds between man and his images. They do not look like him, but
instead are implicit resemblances, correlating fiction and life, forms of idleness that feed all genuine
inspiration.
Abstract (F: C’est pour la collection Cinéma, de notre temps, que Chris Marker filme les derniers
moments de la vie d’Andrei Tarkovski. Ni portrait ni étude visuelle, Une journée d’Andrei Arsenevitch
est plus sûrement une oeuvre en miroir, profondément amicale, qui compose selon une série de figures
poétiques l’étrange relation qui relie un homme à ses images. Elles ne lui ressemblent pas, elles font
de l’implicite ressemblance qui met en contact la fiction et la vie, la forme d’un désoeuvrement qui
nourrit toute inspiration véritable.

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

Science.gov (United States)

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…

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 ...

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

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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.

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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.

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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.

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

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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

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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.

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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.

A Revolução Cubana nos documentários de Chris Marker

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Carolina Amaral de Aguiar

2013-06-01

Full Text Available Nos anos 1960 a Revolução Cubana ocupou o centro do debate entre os intelectuais de esquerda na França. Por outro lado, o governo revolucionário convidou europeus para colaborar com o desenvolvimento de novas instituições, caso do ICAIC. Chris Marker, um dos convidados desse instituto, estabeleceu trocas com realizadores cubanos e montou dois documentários analisados neste artigo: Cuba si (1961 e La bataille des dix millions (1970. O primeiro visava a combater as críticas da imprensa conservadora a Fidel, enquanto o segundo se voltou para a própria esquerda que abandonava Cuba como um modelo.

NEEDLE KNIFE SPHINCTEROTOMY - THE CHRIS HANI BARAGWANATH ACADEMIC HOSPITAL EXPERIENCE.

Science.gov (United States)

Thomson, J T; Smith, M D; Omoshoro-Jones, J A O; Devar, J D; Khan, Z K; Jugmohan, B J

2017-06-01

Deep biliary cannulation is essential in performing a therapeutic ERCP. Cannulation can be enhanced through the utilization of a pre-cut by means of a needle knife sphincterotomy. Retrospective analysis of the Chris Hani Baragwanath Academic Hospital's ERCP database was performed. All ERCPs performed with the aid of a needle knife were identified and analysed for successful and unsuccessful deep biliary cannulation. 2830 ERCPs were performed during the study period. 369 (13%) required needle knife sphincterotomies and successful deep biliary cannulation was achieved in 229 (62%) of these patients. Repeat ERCPs were performed on 125 (34%) patients. 61 (49%) of the repeat ERCPs were performed because of previously failed cannulation. 34 (56%) of these repeat ERCPs resulted in successful deep biliary cannulation at re-attempt. 99% of successful cannulations at repeat ERCP had had a needle knife sphincterotomy at the first ERCP. Needle knife sphincterotomy improves deep biliary cannulation at initial ERCP and subsequent ERCPs with low incidences of complications.

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

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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.

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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

Data.gov (United States)

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

Directory of Open Access Journals (Sweden)

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

Directory of Open Access Journals (Sweden)

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

Carbon Markets and REDD in South-East Asia: An Interview with Chris Lang from REDD-Monitor

Directory of Open Access Journals (Sweden)

Oliver Pye

2012-01-01

Full Text Available Chris Lang is a climate justice activist and currently runs REDD-Monitor, a website that follows projects and developments around REDD (www.redd-monitor.org. The acronym REDD refers to Re- ducing Emissions from Deforestation and Forest Degradation and is a UN programme that aims to offer incentives for countries in the Global South to reduce emissions from deforestation by creating financial values for the forest carbon stocks. In this interview, Lang talks about structural shortcomings of REDD and the danger of carbon cowboys, provides an insight in the 1 billion dollar agreement between Norway and Indonesia, and discusses the relation between REDD and indigenous peoples’ rights. ----- Chris Lang ist Klimaaktivist und betreibt derzeit die Webseite REDD-Monitor, die Projekte und En- twicklungen rund um REDD verfolgt (www.redd-monitor.org. Die Abkürzung REDD bezieht sich auf das UN-Programm Reducing Emissions from Deforestation and Forest Degradation, das darauf abzielt, Anreize für Länder des globalen Südens zu schaffen, ihre Emissionen aus Abholzung durch finanzielle Werte für den Kohlenstoffgehalt der Wälder zu reduzieren. In diesem Interview spricht Lang über strukturelle Schwächen von REDD und der Gefahr durch carbon cowboys. Er gibt einen Einblick in das 1-Milliarde-Dollar Abkommen zwischen Norwegen und Indonesien und diskutiert die Beziehung zwischen REDD und den Rechten indigener Völker.

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…

Cartography of memory in Chris Marker and W.G. Sebald: Notes about History, memory and maps

Directory of Open Access Journals (Sweden)

Álvaro Brito

2017-01-01

Full Text Available This paper aims to approach the artists Chris Marker and W.G. Sebald, trying to determine and develop pervasive questions in their works: the construction of a historiographic discourse, the ambiguities of memory, the erratic movement of their characters and essayistic thinking. We have tried to draft some starting points to make possible the writing of a memory as a cartography, created through walking on the world and also through the collection of images and of stories that tell about lives that went astray in the mis-paths of History.

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.)

Queering The Construction Of Gender Identity In Chris Columbus’ Movie Mrs. Doubtfire

Directory of Open Access Journals (Sweden)

Pradipta Agustina

2013-12-01

Full Text Available The construction of traditional gender roles has affected the understanding of being feminine and masculine. This understanding seems to influence gender performance in the film Mrs. Doubtfire. This one­hour­and­fifty­seven­minute film was directed by Chris Columbus. This study is conducted to examine how gender performativity is illustrated in the film and what ideology lies within the film. Queer theory, especially gender performativity by Judith Butler is used as the framework of the study. The study is done by observing and analysing chosen scenes from the film focusing on the performance of Daniel Hillard as Euphegenia Doubtfire. Narrative aspect of the film is not only the main concern; the non­narrative is also part of the analysis especially on costume, makeup, performance and color. The main finding of this study is this film in one hand celebrates traditional gender roles but on the other hand promotes gender as performance. Femininity is pictured as fluid. Therefore, it is also a performativity. The contestation between those two opposing ideas is smoothly wrapped through amusing film such as Mrs. Doubtfire. Abstrak: Film Mrs. Doubtfire karya Chris Columbus menampilkan konstruksi yang berbeda dengan konstruksi peran gender yang telah menjadi mainstream. Berdurasi 1 jam dan 57 menit, film ini menampilkan konstruksi maskulinitas dan femininitas yang dapat saling bertukar, cair, dan tidak baku. Studi ini mengkaji dua pertanyaan utama. Pertama, bagaimana konstruksi peran gender digugat melalui performativitas gender? Kedua, ideologi apa yang terdapat dalam film? Teori Queer terutama gender performativitas yang dikemukakan oleh Judith Butler menjadi kerangka penelitian ini. Penelitian ini dilakukan dengan mengobservasi dan menganalisis adegan terpilih dengan berfokus pada penampilan Daniel Hillard sebagai Euphegenia Doubtfire. Aspek naratif dalam film bukan satu­satunya perhatian utama. Aspek non­naratif juga menjadi bagian

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…

Multi-Temporal Monitoring Of Ecological Succession In Tropical Dry Forests Using Angular - Hyperspectral Data (Chris/Proba)

Science.gov (United States)

Garcia Millan, V. E.

2015-12-01

The tropical dry forest is the largest and most threatened ecosystem in Latin America. Remote sensing can effectively contribute to the surveillance of conservation measurements and laws through the monitoring of natural protected areas, at the required temporal and spatial scales. CHRIS/PROBA is the only satellite that presents quasi-simultaneous multi-angular pointing and hyperspectral spectroscopy. These two characteristics permit the study of structural and compositional traces of successional stages within the tropical dry forest. The current study presents the results of mapping the succession of tropical dry forest in the Parque Estadual de la Mata-Seca, in Minas Gerais, Brazil, using a temporal analysis of CHRIS/PROBA images in a time frame of 7 years, between 2008 and 2014. For the purpose the -55° angle of observation has been used, which enhances spectral differences between successional stages. Spectral Angle Mapper has been used for mapping succession of tropical dry forest and afterwards Change Detection Analysis has been performed. Based on our observations, the tropical dry forest in the Parque Estadual de la Mataseca recovers at a fast rate, for the observed period (2008-2014). More than the 50% of the early and intermediate forests has been recovered to a mature forest. Significantly, around a 12% of old pastures have been converted into forest. The spatial analysis also reveals that the areas that recover most rapidly are located in the east of the Park, close to mature forests. The provision of seeds from these forests might be the cause for the fast recovery.

On Tuesday 21 July, Director General Chris Llewellyn Smith unveiled the sign naming the Route Abdus Salam on the Meyrin site

CERN Document Server

Oliver O'Hanlon

1998-01-01

Photo no 02 : Also at the brief ceremony were some of those who contributed to these and subsequent physics developments at CERN, and for whom Salam's name has a special meaning : left to right - Maurice Jacob, John Ellis, Don Cundy, Chris Llewellyn Smith, Horst Wachsmuth, Luigi Di Lella, Alan Ball, Gregoire Kantardjian, Gordon Fraser, Guy Acquistapace.

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

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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

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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

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

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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.

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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

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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.

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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

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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

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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

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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.

Science.gov (United States)

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.

Science.gov (United States)

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.

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.…

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Indian Academy of Sciences (India)

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10.1007/s12041-017-0847-y. © Indian Academy of Sciences. 725. HALDANE AT 125. In the Dark Hours*. Naomi Mitchison. *Naomi M tchison (1897-1999). Article reproduced with permission from J. B. S. Hald ne, a tribute (Indian Statistical ...

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

Review: Chris Alden, Sergio Chichava (eds, China and Mozambique: From Comrades to Capitalists (2014 / Giles Mohan et al., Chinese Migrants and Africa’s Development: New Imperialists or Agents of Change? (2014

Directory of Open Access Journals (Sweden)

Laurence Marfaing

2015-01-01

Full Text Available Review of: Chris Alden and Sergio Chichava (eds, China and Mozambique: From Comrades to Capitalists, Johannesburg: Jacana Media, 2014, ISBN 9781920196943, 240 pp.andGiles Mohan, Ben Lampert, May Tan-Mullins and Daphne Chang, Chinese Migrants and Africa’s Development: New Imperialists or Agents of Change?, London: Zed Books, 2014, ISBN 9781780329178, 192 pp.

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.

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.

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...

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.

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...

U.S. tabloid magazine coverage of a celebrity dating abuse incident: Rihanna and Chris Brown.

Science.gov (United States)

Rothman, Emily F; Nagaswaran, Anita; Johnson, Renee M; Adams, Kelley M; Scrivens, Juliane; Baughman, Allyson

2012-01-01

Dating abuse is a prevalent adolescent health problem with substantial public health consequences. As many as 1 in 10 high school students in the United States reports being "hit, slapped, or physically hurt on purpose" by his or her boyfriend or girlfriend in the past year. The authors used the Rihanna-Chris Brown dating abuse incident of 2009 as a case study to conduct what is, to our knowledge, the first assessment of media framing of dating abuse. The authors reviewed the 20 leading U.S. single-copy sales magazines published from February to April 2009 and identified 48 relevant articles, which were all printed in 7 tabloid magazines. The authors conducted a content analysis of the media frames of the articles using 5 frame categories: (a) abuse is objectionable, (b) victim-blaming, (c) abuse is sexualized/romanticized, (d) myths about abuse perpetration, and (e) abuse is normalized. Abuse is objectionable was the dominant frame of 40% of articles, victim-blaming in 36%. Although the majority of articles reviewed (83%) made at least passing reference to the idea that abuse is wrong, a minority (40%) used a dominant frame that condemned abuse. Instead, the majority of articles communicated mixed messages about dating abuse, and many minimized the seriousness of partner abuse perpetration. Advocacy is needed to improve future tabloid media framing of dating abuse incidents.

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)

PeoplePersonality: Chris Clarke - a physicist who studies ice cream Teaching Anecdotes: Annie Jump Cannon Obituary: György Marx 1927-2002 Starting Out: What Katie did next: part 3 Opinions: What is really important?

Science.gov (United States)

2003-03-01

Featuring relationships, personalities, interactions, environments and reputations involved in physics and education PERSONALITY (156) Chris Clarke - a physicist who studies ice cream TEACHING ANECDOTES (157) Annie Jump Cannon OBITUARY (158) György Marx 1927-2002 Steven Chapman STARTING OUT (159) What Katie did next: part 3 Katie Pennicott OPINIONS (160) What is really important? Kerry Parker

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

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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.

Achievement in Physics

Science.gov (United States)

1999-03-01

Naomi Moran, a student at the Arnewood School, New Milton, Hampshire was the first recipient of the `Achievement in Physics' prize awarded by the South Central Branch of The Institute of Physics. Naomi received an award certificate and cheque for £100 from Dr Ruth Fenn, Chairman of the Branch, at the annual Christmas lecture held at the University of Surrey in December. She is pictured with Dr Fenn and Steve Beith, physics teacher at the Arnewood School.  Photo Figure 1. Naomi Moran receiving her award (photograph courtesy of Peter Milford). The award is intended to celebrate personal achievement in physics at any level at age 16-17 and is not restricted to those who gain the highest academic results. Schools across the county were invited to nominate suitable candidates; Naomi's nomination by the school's deputy head of science impressed the judges because of her ability to grasp the most difficult parts of the subject quickly, in addition to the fact that she took her AS-level science in year 11 when she was only 16. She is currently studying A-level physics, chemistry and mathematics and hopes to continue her studies at university later this year.

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

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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.

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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.

Science.gov (United States)

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.

(A Mulitimodal Ultramicrospectroscope(MUMS): Imaging with Integrated Spectroscopies for Chemical and Biomolecular Identification*): Scientific Progress and accomplishments

Science.gov (United States)

2009-01-01

nanoshell surface.( Bardhan et al. “Nanoscale control of Near-Infrared Fluorescence Enhancement using Au Nanoshells”, Small 4, 1716-1722 (2008)). 6. We...Brinson, J. Britt Lassiter, Carly S. Levin, Rizia Bardhan , Nikolay Mirin and Naomi J. Halas, “Nanoshells made easy: improving Au layer growth on...Spectroscopy”, JACS 130, 14040-1 (2008). 5. Rizia Bardhan , Nate K. Grady, and Naomi J. Halas, “Nanoscale control of Near-Infrared Fluorescence Enhancement

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.

Science.gov (United States)

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

Montage, Militancy, Metaphysics: Chris Marker and André Bazin

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Sarah Cooper

2010-01-01

Full Text Available

Abstract (E: This article focuses on the relationship between the work of André Bazin and Chris Marker from the late 1940s through to the late 1950s and beyond. The division between Bazin's ŘRight Bankř affiliation with Les Cahiers du Cinéma on the one hand, and Markerřs ŘLeft Bankř allegiances on the other, is called into question here as my argument seeks to muddy the waters of their conventional ideological separation across the river Seine. Working alliteratively through Markerřs well-known talent for deft montage along with his militancy, I consider Bazinřs praise for Markerřs editing technique Ŕ in spite of famously expressing a preference elsewhere for the long take, and deep focus cinematography Ŕ and I address their political differences and convergences. Yet I also explore the rather more unexpected question of metaphysics in order to further emphasize a closer relationship between these two figures. I chart the emergence of an enduring spiritual bond between critic and filmmaker that surfaces first in Markerřs writings for the left-wing Catholic journal L’EspritSíndrome 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.

Science.gov (United States)

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.

Science.gov (United States)

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.

Science.gov (United States)

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.

A Retrospective Analysis of Thyroid Disease in Pregnancy at Chris Hani Baragwanath Academic Hospital Soweto South Africa

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V Nicolaou

2017-12-01

Full Text Available BackgroundThyroid diseases in pregnancy are associated with adverse outcomes for mother and fetus.No studies have been reported examining the spectrum and nature of such disorders in the Black population of South Africa.AimsTo examine thyroid disorders in pregnancy at Chris Hani Baragwanath Academic Hospital in Soweto, by assessing the causes, management and outcomes.MethodsA retrospective review of thyroid disorders was undertaken in 88 patients, attending the Antenatal Endocrine Clinic over a four-year period. All underwent initial and follow-up clinical and biochemical assessments.Maternal delivery records and thyroid function tests of the neonates 48 hours or later following delivery were reviewed.ResultsFifty-eight (66% were hyperthyroid, 23(26% hypothyroid, and 7(8% had euthyroid colloid goiters. Forty-eight (83% hyperthyroid patients had Graves’ disease, whilst had gestational hyperthyroidism. Regarding the hypothyroid patients, more than half followed I131 ablation for Graves’ disease. Eighty-seven percent of the hyperthyroid and 83% of the hypothyroid patients were euthyroid prior to delivery. One fatal maternal outcome, due to uterine rupture and six intra-partum fetal losses occurred. Amongst neonates, there was one case of a tracheo-esophageal fistula and one of neonatal thyrotoxicosis.ConclusionThis is the first report in sub-Saharan Africa detailing thyroid diseases in pregnancy.

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.

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.

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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

2015-02-01

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.

O arquivo e o sonho: a montagem como processo de mediação em “Sem Sol”, de Chris Marker

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Julia Gonçalves Declie Fagioli

2015-07-01

Full Text Available O que propomos, no presente artigo, é pensar a montagem – e, mais especificamente, a montagem de imagens de arquivo – como processo de mediação entre as imagens e o espectador. Para isso, recorremos às ideias de Georges Didi-Huberman para refletir sobre as imagens do sonho e as imagens de arquivo. Ambas – cada uma à sua maneira – carregam vestígios da memória e possuem caráter lacunar. Apenas quando são articuladas no sonho, ou na montagem – no caso do cinema documentário – que se configura um novo sentido. Analisaremos “Sem sol” de Chris Marker, em que as imagens de arquivo são montadas de forma a proporcionar uma reflexão sobre a memória e a história. O filme é construído com imagens de arquivo e leituras de cartas de um cinegrafista viajante, o que confere à narrativa um caráter imaginativo, característica essencial da lembrança e da memória.

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

Energy Technology Data Exchange (ETDEWEB)

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.

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

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

2015-01-01

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.

Um estudo observacional do filme Denise está Chamando à luz da teoria de ação de Chris Argyris e Donald Schön Study of the motion picture "Denise Calls Up" focusing on the action theory by Chris Argyris and Donald Schön

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Nildes R. Pitombo Leite

2007-01-01

Full Text Available Este trabalho apresenta uma análise do mundo comportamental retratado no filme Denise está Chamando (Denise Calls Up, de Hal Salwen (1995, cujas características (omissão, distanciamento, manipulação subreptícia, mentiras piedosas, controle e proteção unilaterais são típicas do Oposto ao Modelo I e delicadas para serem identificadas, analisadas e discutidas facilmente nas interações humanas. Esse modelo é oriundo da Teoria de Ação proposta por Chris Argyris e Donald Schön (1977, 1996, aqui utilizados como base de argumentação. Buscou-se, neste trabalho, responder à pergunta de como pesquisadores e consultores podem tornar conhecidos modelos mentais e seus modos de ação. Apresentou-se, ainda, uma perspectiva de análise fílmica, com vistas a contribuir para o incremento de um trabalho científico no Brasil que possa auxiliar grupos e organizações na análise de suas ações. O estudo caracteriza-se como qualitativo, observacional, com base em observação indireta e não-participante. Escolheu-se o método da análise de discurso, baseado em cenas elucidativas da proposição teórica estudada. A fundamentação teórica tentou contextualizar, de modo sucinto, os elementos da Teoria de Ação, identificando, com base no filme, o mundo comportamental que permeia as relações humanas.Behavioral dynamics portrayed in the motion picture, "Denise Calls Up" by Hal Salwen (1955, were analyzed in relation to omission, indifference, surreptitious manipulation, merciful lies and unilateral control and protection. These attitudes are typical of the Opposite of Model I by Chris Argyris and Donald Schön (1995 and are difficult to identify, analyze and discuss in human interactions. Arguments were based on the Model, which was part of their Theory of Action (1977, 1996, and questioned how researchers and consultants could make mental models and modi operandi better known to others. An analysis of the film was also presented thereby

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

The Potential of Forest Biomass Inversion Based on Vegetation Indices Using Multi-Angle CHRIS/PROBA Data

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Qiang Wang

2016-10-01

Full Text Available Multi-angle remote sensing can either be regarded as an added source of uncertainty for variable retrieval, or as a source of additional information, which enhances variable retrieval compared to traditional single-angle observation. However, the magnitude of these angular and band effects for forest structure parameters is difficult to quantify. We used the Discrete Anisotropic Radiative Transfer (DART model and the Zelig model to simulate the forest canopy Bidirectional Reflectance Distribution Factor (BRDF in order to build a look-up table, and eight vegetation indices were used to assess the relationship between BRDF and forest biomass in order to find the sensitive angles and bands. Further, the European Space Agency (ESA mission, Compact High Resolution Imaging Spectrometer onboard the Project for On-board Autonomy (CHRIS-PROBA and field sample measurements, were selected to test the angular and band effects on forest biomass retrieval. The results showed that the off-nadir vegetation indices could predict the forest biomass more accurately than the nadir. Additionally, we found that the viewing angle effect is more important, but the band effect could not be ignored, and the sensitive angles for extracting forest biomass are greater viewing angles, especially around the hot and dark spot directions. This work highlighted the combination of angles and bands, and found a new index based on the traditional vegetation index, Atmospherically Resistant Vegetation Index (ARVI, which is calculated by combining sensitive angles and sensitive bands, such as blue band 490 nm/−55°, green band 530 nm/55°, and the red band 697 nm/55°, and the new index was tested to improve the accuracy of forest biomass retrieval. This is a step forward in multi-angle remote sensing applications for mining the hidden relationship between BRDF and forest structure information, in order to increase the utilization efficiency of remote sensing data.

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.

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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.

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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.

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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.

Crossing Chris: Some Markerian Affinities

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Adrian Martin

2010-01-01

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Abstract (E: This essay creatively explores a group of artists, writers, and other special individuals whose work or life story can be described as having an intriguing affinity with the protean career of Chris Marker. Avoiding the ‘usual suspects’ (such as Godard or Sebald, it discusses gossip columnist Milt Machlin, record collector Harry Smith, painter Gianfranco Baruchello, writer-filmmaker Edgardo Cozarinsky, and several others. From this constellation, a particular view of Markerian poetics emerges, touching upon the meanings of anonymity, storytelling, history and archiving.

Abstract (F: Cet essai brosse de manière créative le portrait d’un groupe d'artistes, d'écrivains et d'autres personnes particulières dont le travail ou la biographie peuvent être décrits comme montrant une étrange mais certaine connivence avec la carrière protéiforme de Chris Marker. Evitant les lieux communs (comme Godard ou Sebald, cet article trace des références moins attendues :