Results 131 to 140 of about 196,069 (283)

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

Clinical Trial of Subcutaneous Steroid Injection in Patients with Migraine Disorder

Iranian Journal of Medical Sciences, 2016
Background: Neurologic literature on therapeutic effect of subcutaneous corticosteroids in patients with migrainous chronic daily headache is scarce.
Karim Nikkhah, Kavian Ghandehari, Ali Ghabeli Jouybari, Mohammad Mousavi Mirzaei, Kosar Ghandehari   +4 more
doaj  

Psychosocial aspects of chronic daily headache [PDF]

, 2005

core   +1 more source

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

How Do I Answer This? A Queer Critique of Australian Census Forms and the Reification of Cisheteronormative Families

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper presents a critical examination of Australia's 2021 household, individual and interviewer census forms. Using a form‐led analysis, this research scrutinises the underlying cisheteronormative logic that implicitly shapes the Census process, from data collection to distribution of findings.
Xavier Mills, Sal Clark
wiley   +1 more source

Neonatal-onset multisystem inflammatory disease responsive to interleukin-1 beta inhibition [PDF]

, 2006
BACKGROUND:Neonatal-onset multisystem inflammatory disease is characterized by fever, urticarial rash, aseptic meningitis, deforming arthropathy, hearing loss, and mental retardation.
Adams, BS, Aksentijevich, I, Beitz, LO, Brewer, C, Butman, JA, Canna, SW, Cole, JL, Dailey, NJ, Fuhlbrigge, RC, Gardner, G, Gelabert, A, Goldbach-Mansky, R, Hannan, WP, Haverkamp, MH, Hawkins, PN, Hill, S, Hoffmann, SC, Holland, SM, Horn, W, Jarvis, JN, Jones, J, Karp, BI, Kastner, DL, Kim, HJ, Moore, TL, O'Neil, K, Paul, SM, Penzak, SR, Pham, TH, Pucino, F, Rubin, BI, Shaham, B, Snyder, C, Stein, L, Turner, ML, Vehe, RK, Warren, RW, Wesley, RA, Wiggs, E, Zalewski, C   +39 more
core  

The Politics of Framing the Student Problem: Inquiries Into Australian Civics Education, 2006–2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT Recurring debates about civics, the kinds of history that should, and should not, be taught in school, and ‘standards debates’ about the ‘basics’ typically follow on the heels of recurring moral panics about the ‘declining’ state of ‘our’ education system.
Patrick O'Keeffe, Judith Bessant, Madeline Drake   +2 more
wiley   +1 more source

Expectations and Reality: The Lived Experiences of Australians With Psychosocial Disability Within the NDIS

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

Family Dispute Resolution in Australia: The Under‐Servicing of Indigenous, Migrant and Refugee Families Experiencing Family Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Improving access to legal services for Indigenous, migrant and refugee women is critical to addressing family violence. In this context, Family Dispute Resolution (FDR) has long been discussed as a solution for separating families. This paper presents key findings of a research evaluation of an Australian Government $8.37 million pilot project
Siobhan McDonnell, Alyson Wright
wiley   +1 more source