Results 171 to 180 of about 144,401 (267)

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source

Too new to lead? Values-driven leadership in the first 5 years of family practice. [PDF]

Can Fam Physician
Cass J.
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

When silence becomes violence: a perspective on institutional discourse, digital resistance, and educational justice in Temanggung, Indonesia. [PDF]

Front Sociol
Irwanto I.
europepmc   +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

‘I’m fighting my case all the time’. Candidacy, stigma, and negotiated access in cancer care: experiences of adults with intellectual disability and their supporters

Gil NM, Kerrison RS, Whitaker KL, McBride E, Cox A.   +4 more
europepmc   +1 more source

'If You Don't Fight for Yourself, No One Else Will': An In-Depth Interpretative Phenomenological Analysis of Rare Disorder Care Advocacy in Aotearoa New Zealand. [PDF]

Health Expect
Bennett L, Officer TN.
europepmc   +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

Developing Quality Standards and a Logic Model for Culturally Appropriate Advocacy in Mental Healthcare in the UK: a mixed methods study

Timimi Z, Salla A, Newbigging K, Joseph D, Henderson C, Bhattacharya R, Giorgakoudi K, White S, Edge D, Gillard S.   +9 more
europepmc   +1 more source

The SEQUINS scholars program: a longitudinal curriculum to advance brain health equity education among early career trainees. [PDF]

Equity Neurosci
Forman R, Das G, Ader J, Lyden S, Tagge R, Ovbiagele B, Naqvi IA.   +6 more
europepmc   +1 more source