CO OZNACZA SŁOWO PRADER-WILLI SYNDROME
Zespół Pradera-Williego
Zespół Pradera-Williego (/ prɑːdər vɪli /, skrótowo PWS) jest rzadkim zaburzeniem genetycznym, w którym siedem razy na chromosomie 15 (q 11-13) zostało usunięte lub niewymienione (częściowe usunięcie chromosomu 15q) chromosom. Został po raz pierwszy opisany w 1956 roku przez Andreę Prader (1919-2001), Heinrich Willi (1900-1971), Alexis Labhart (1916-1994)), Andrew Ziegler i Guido Fanconi z Szwajcarii. Charakterystyczną cechą PWS jest "niski poziom mięśni, krótka postać, niekompletny rozwój seksualny, upośledzenia funkcji poznawczych, zachowania problemowe i przewlekłe uczucie głodu, które mogą prowadzić do nadmiernego spożycia i zagrażającej życiu otyłości". Częstość występowania PWS wynosi pomiędzy 1 na 25 000 a 1 na 10 000 żywych urodzeń. Źródło matek pochodzące z materiału genetycznego dotkniętego zespołem jest ważne, ponieważ dany region zaangażowany w chromosomy 15 podlega nadrukiem rodzicielskim, co oznacza, że w przypadku wielu genów w tym regionie tylko jedna kopia genu jest wyrażona drugi zostaje wyciszony przez nadruk.
Definicja słowa Prader-Willi syndrome w słowniku
Definicja zespołu Pradera-Williego w słowniku jest wrodzonym stanem charakteryzującym się obsesyjnym jedzeniem, otyłością, upośledzeniem umysłowym i drobnymi genitaliami.
KSIĄŻKI POWIĄZANE ZE SŁOWEM «PRADER-WILLI SYNDROME»
Poznaj użycie słowa
Prader-Willi syndrome w następujących pozycjach bibliograficznych Książki powiązane ze słowem
Prader-Willi syndrome oraz krótkie ich fragmenty w celu przedstawienia kontekstu użycia w literaturze.
1
Prader-
Willi Syndrome: Development and Manifestations
Both authors have been involved in the Cambridge PWS study, which is the largest and most rounded of the cohort studies of PWS anywhere in the world. The unique data it provides is the basis of this book.
Joyce Whittington, Tony Holland,
2004
2
Management of
Prader-
Willi Syndrome
This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.
Merlin Butler, Phillip D.K. Lee, Barbara Y. Whitman,
2006
3
Prader-
Willi Syndrome: A Practical Guide
An examination of the cognitive, medical and psychological aspects of educating a child with Prader-Willi Syndrome.
4
Prader-
Willi Syndrome: Effects of Human Growth Hormone Treatment
This book provides an overview of the clinical research results as to hormones and metabolism of PWS with special emphasis on growth hormone and growth hormone treatment.
5
Prader-
Willi Syndrome: Selected Research and Management Issues
This volume is not intended as a comprehensive review, but as a source of new, original research on this little understood syndrome.
Mary L. Caldwell, Ronald L. Taylor,
2011
6
Management of
Prader-
Willi Syndrome: Under the Sponsorship ...
Management of Prader-Willi Syndrome is the first book to provide a comprehensive source of knowledge about Prader-Willi Syndrome and to offer common-sense guidelines for management.
Louise R. Greenswag, Randell C. Alexander,
2012
7
Prader-
Willi Syndrome: New Insights for the Healthcare ...
Prader-Willi Syndrome: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Prader-Willi Syndrome in a compact format.
8
Hypothalamic Regulation in Relation to Maladaptive, ...
Prader-Willi Syndrome (PWS) is a neurogenetic disorder that occurs in 1 in approximately 20,000 and is the leading cause of genetic obesity.
9
Prader-
Willi Syndrome as a Model for Obesity: International ...
37 Lee PDK: Endocrine and metabolic aspects of Prader-Willi syndrome; in
Greenswag LR, Alexander R (eds): Management of the Prader-Willi Syndrome.
New York, Springer,1995, pp 32–57. 38 Cassidy SB: Prader-Willi syndrome.
Urs Eiholzer, Dagmar l'Allemand,
2003
10
Neurodevelopmental Disorders
Visual processing strengths also are suggested by Gabel et al. (1986), who
administered a battery of attentional, visuospatial, and psychomotor tasks to 15
children with Prader-Willi syndrome and 15 age- and gender-matched normal
children.
Helen Tager-Flusberg,
1999
WIADOMOŚCI, KTÓRE ZAWIERAJĄ SŁOWO «PRADER-WILLI SYNDROME»
Sprawdź, o czym dyskutuje się w prasie krajowej i zagranicznej oraz jak jest stosowane słowo
Prader-Willi syndrome w wiadomościach.
Walk or run to support Prader-Willi Syndrome research
Prader-Willi Syndrome (PWS) is a rare genetic disorder, affecting approximately one in 15,000 births, and causes constant hunger, short stature ... «Pamplin Media Group, Lip 15»
Aeterna Zentaris Commences Promotional Activities for EMD …
... or in children with Prader-Willi syndrome who are severely overweight or have a history of breathing problems including sleep apnea. «MarketWatch, Lip 15»
Special needs woman, toddler, still missing in Gary
Bynum has Prader-Willi syndrome and is said to think at the level of a 5- to 7-year-old. "She takes meds three times a day which helps her focus ... «WLS-TV, Lip 15»
Photographer Rachel Callander's wonderful gift to families of …
... featured in the book all have genetic or chromosomal conditions such as Down syndrome, Angelman syndrome and Prader-Willi syndrome. «Sydney Morning Herald, Lip 15»
Chinese scientists identify new therapy for child obesity
... metabolites, and said an improved gut microbiota can significantly help to treat genetic obesity such as Prader-Willi Syndrome (PWS). «WantChinaTimes, Lip 15»
Zafgen Downgraded by Zacks (ZFGN)
... and hyperphagia in Prader-Willi Syndrome patients, craniopharyngioma-associated obesity, and severe obesity in the general population. «WKRB News, Lip 15»
Cyclists tackle ride for a cause
With the addition of this year's fundraising, Scott estimates that they have donated about $100,000 to the Prader-Willi Syndrome Association ... «Snohomish County Tribune, Lip 15»
Zafgen Lowered to "Hold" at Zacks (ZFGN)
... and hyperphagia in Prader-Willi Syndrome patients, craniopharyngioma-associated obesity, and severe obesity in the general population. «Dakota Financial News, Lip 15»
Study helps kids with obesity gene
BEIJING, July 23 (Xinhuanet) -- A research team has successfully helped children with Prader-Willi Syndrome, a kind of hereditary obesity, lose ... «Xinhua, Lip 15»
JEFF EDELSTEIN: Chris Christie caves on plan to displace 470 …
“It's a full victory,” said Henoch, who has 27-year-old daughter, Sophie, who has Prader-Willi Syndrome and lives at Prader-Willi Homes of ... «The Trentonian, Lip 15»