Results 151 to 160 of about 15,582,923 (344)

Rüdin's Unpublished Family Study From the Early 1920s: “On the Inheritance of Manic‐Depressive Insanity”

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Ernst Rüdin, an important and controversial figure in the history of psychiatric genetics, published only one major empirical study on siblings of dementia praecox (DP) probands in 1916. He conducted a parallel study of siblings of probands with manic‐depressive insanity (MDI), but the resulting monograph, written in the early 1920s, was left ...
Kenneth S. Kendler, Astrid Klee
wiley   +1 more source

Mixed methods evaluation of workshops for citizen health advocates about financial conflicts of interests in healthcare [PDF]

, 2020
Bero, Lisa, Fabbri, Alice, Moynihan, Ray, Parker, Lisa   +3 more
core   +1 more source

Ethnicity, Older People and Palliative Care [PDF]

, 2012
This report brings together established and developing work on older people, ethnicity and palliative care from PRIAE (Policy Research Institute on Ageing and Ethnicity) and the National Council for Palliative Care (NCPC).

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

Through a Tainted Lens: A Qualitatve Study of Medical Learners’ Thinking About Patient ‘Deservingness’ of Health Advocacy

Perspectives on Medical Education
Introduction: While health advocacy is a key component of many competency frameworks, mounting evidence suggests that learners do not see it as core to their learning and future practice.
Ian Scott, Maria Hubinette, Theresa van der Goes, Renate Kahlke   +3 more
doaj   +1 more source

Air pollution in India:Questions of advocacy and ethics [PDF]

, 2017
Doshi, Neelam, McLean, Michelle, Worthington, Roger   +2 more
core   +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

Understanding the need for digital twins' data in patient advocacy and forecasting oncology. [PDF]

Front Artif Intell, 2023
Chang HC, Gitau AM, Kothapalli S, Welch DR, Sardiu ME, McCoy MD.   +5 more
europepmc   +1 more source

Silver Dreams Fund Learning and Evaluation Contract: Final report June 2014 [PDF]

, 2014
This is a summary of the Final Report which presents the findings of the evaluation of the Big Lottery Fund's Silver Dreams Fund conducted by Ecorys.The Silver Dreams Fund was a £10 million programme which sought to address the gaps in provision by ...
Louise Scott, Martina Diep, Nicola Smith, Rachel Gardner, Sandra Frost   +4 more
core  

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source