Results 221 to 230 of about 1,858,146 (268)
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
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 +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera +15 more
wiley +1 more source
Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review
Australian Journal of Social Issues, EarlyView.ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett +3 more
wiley +1 more source
‘Somewhere We Can Call Home and…Be Normal’: Findings From the Justice Housing Programme Evaluation
Australian Journal of Social Issues, EarlyView.ABSTRACT The relationship between homelessness or unstable housing and reincarceration is well documented. The initial month after a person is released from custody is a period of particular vulnerability, with an increased risk of homelessness and return to prison.
Helen Taylor, Lorana Bartels
wiley +1 more source
Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education
Australian Journal of Social Issues, EarlyView.ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart +2 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz +7 more
wiley +1 more source