Results 201 to 210 of about 3,934,978 (257)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Consultation on children, young people and alcohol [PDF]

, 2009

core  

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

Superannuation Reimagined: Moving Beyond the Origins to an Indigenous Focus

Australian Journal of Social Issues, EarlyView.
ABSTRACT Retirement income systems, such as superannuation, are meant to be non‐discriminatory and consider disadvantage faced by members of society. There are significant differences between the life expectancies of Indigenous and non‐Indigenous peoples. The gap in life expectancies is not considered when determining when Indigenous peoples can retire.
Levon Ellen Blue, Peter Anderson, Mark Brimble   +2 more
wiley   +1 more source

High‐Altitude Hypoxemia in Adults With Sickle Cell Disease (SCD)

American Journal of Hematology, EarlyView.
Mofiyin A. Obadina, Sherri Morris, Tara Alin, Barbara LeVarge, Jane A. Little   +4 more
wiley   +1 more source

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Depression in young people

Lancet, The, 2022
Depression rates in young people have risen sharply in the past decade, especially in females, which is of concern because adolescence is a period of rapid social, emotional, and cognitive development and key life transitions. Adverse outcomes associated with depression in young people include depression recurrence; the onset of other psychiatric ...
Anita Thapar, Olga Eyre, Vikram Patel
exaly   +3 more sources

Communicating with young people

Paediatric Respiratory Reviews, 2003
Age-appropriate communication skills help health professionals to engage effectively with young people. These communication skills are a key element for improving adherence with the health care regimen in young people with respiratory conditions, particularly those with chronic disease.
openaire   +2 more sources

Young People and the Family

1998
Shortly after the Wende and German unification, many researchers from the ‘old’ Federal Republic began to conduct research on young people and the family in the German Democratic Republic and the new Lander. Although the Central Institute of Youth Research in Leipzig (ZIJ = Zentralinstitut fur Jugendforschung) had conducted research programmes for ...
openaire   +2 more sources