Results 111 to 120 of about 6,738 (290)
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
Harm built in—why the gambling industry needs a Silent Spring moment [PDF]
, 2023 May CI van Schalkwyk +3 more
openalex +1 more source
The dangers of conflating gambling-related harm with disordered gambling.
Journal of behavioral addictions, 2019 In their critical review of the prevention paradox (PP) applied to gambling-related harm, Delfabbro and King (2017) raise a number of concerns regarding specific assumptions, methods, and findings as well as the general conceptual approach. Besides discussing the PP, the review also considers the merits of considering a "continuum of harm," as opposed ...
Browne, Matthew, Rockloff, Matthew J.
openaire +2 more sources
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle +26 more
wiley +1 more source
Synthesis of Conjugated Linear and Cyclic Polyynes by Selective Alkyne Metathesis
Angewandte Chemie, EarlyView.The formation of polyynes with an odd number of conjugated triple bonds is challenging, particularly for complex architectures since most established methods rely on irreversible C–C bond‐forming reactions. To address this, we have developed the synthesis of triynes via alkyne metathesis.
Julien Escudero +12 more
wiley +2 more sources
BJPsych OpenBackground Gambling-related harm is a global public health concern. Suicide mortality is increased among people who experience gambling harm, and people who die by suicide often have contact with mental health treatment services in the months preceding
Matthew Jones +4 more
doaj +1 more source
Using geospatial mapping to predict and compare gambling harm hotspots in urban, rural and coastal areas of a large county in England. [PDF]
J Public Health (Oxf), 2023 Saunders M +5 more
europepmc +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
Angewandte Chemie, EarlyView.This study explores the origins of life by linking prebiotic chemistry, the emergence of information‐carrying molecules such as RNA and proteins, and philosophical questions about consciousness. The study emphasizes the role of molecular evolution in the Central Dogma and provides insights into the chemical origins of biology and the basis of life's ...
Harald Schwalbe +5 more
wiley +2 more sources
Validating the short gambling harm screen against external benchmarks. [PDF]
J Behav Addict, 2022 Murray Boyle C +3 more
europepmc +1 more source