Results 101 to 110 of about 21,382 (257)
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
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
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
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper applies Critical Race Theory (CRT) to explore how whiteness operates within Australia's anti‐racism movement as a structuring force that shapes discourse, practice and policy. Despite the anti‐racism movement offering crucial spaces for resistance and reform, it remains entangled in Australia's settler‐colonial present and systemic ...
Franka Vaughan, Aish Ravi
wiley +1 more source
An Overview of the Pre-suppression Society of Jesus in Spain [PDF]
, 2020 In An Overview of the Pre-suppression Society of Jesus in Spain, Patricia W. Manning offers a survey of the Society of Jesus in Spain from its origins in Ignatius of Loyola's early preaching to the aftereffects of its expulsion. Rather than nurture the nascent order, Loyola's homeland was often ambivalent.
openaire +2 more sources
Australian Journal of Social Issues, EarlyView.ABSTRACT While Australia's National Disability Insurance Scheme (NDIS) was founded on principles of choice and control, for people with significant mental health challenges (what the NDIS calls ‘psychosocial disability’) these ideals often remain elusive. Support systems continue to be fractured and in the context of ongoing policy reforms, it is vital
Joel Hollier, Jennifer Smith‐Merry
wiley +1 more source
Housing as Asset‐Based Welfare in Australia: An Investigation Through a Consumption Lens
Australian Journal of Social Issues, EarlyView.ABSTRACT Housing asset‐based welfare has long been a key component of Australia's social policy. This resonates with a parallel literature identifying a trade‐off between homeownership and the size of nations' welfare states, wherein owner‐occupiers in smaller welfare states tend to come to rely on housing wealth to meet many of their welfare needs ...
Gavin A. Wood +3 more
wiley +1 more source
Nothing to See Here: Researching Non‐Recent Child Abuse in Schools and the Politics of Silence
Australian Journal of Social Issues, EarlyView.ABSTRACT While institutions, including schools, have responsibilities to protect children from harm, responses to instances of child sexual abuse have often exhibited avoidance and denial. Recent public inquiries in Australia revealed that some institutions, particularly in the Catholic sector, employed a deliberate strategy of silence which was used ...
John Crowley +2 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT The rapid increase in older people in prison populations worldwide is generating significant health, cost, and human rights pressures on custodial systems. Compassionate release for older, frail inmates is a potentially effective response, yet little is known about public support for this approach.
Ye In (Jane) Hwang +3 more
wiley +1 more source
Performance of common fetal growth standards in pregnancies affected by systemic lupus erythematosus. [PDF]
Rev Assoc Med Bras (1992)Barros ACRP +6 more
europepmc +1 more source