Results 181 to 190 of about 158,179 (300)

Rethinking Alcohol Harm Reduction. [PDF]

Drug Alcohol Rev
Caluzzi G.
europepmc   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

The impact of e-cigarette taxation: a systematic review and meta-analysis on usage, pricing strategies, and public health implications. [PDF]

BMC Med
Wang Q, Zhu Z, Gong C, Lv Y, Qin Y, Zhang Y, Fu Y, Zhang J, Song Y, Jiang Y, Yang L.   +10 more
europepmc   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Contextual factors in the surveillance of non-communicable diseases (NCD) in Germany: political, social and environmental indicators. [PDF]

J Health Monit
Neuperdt L, Tuncer O, Mumm R, Jordan S, Starker A, Manz K, Müters S, Heidemann C.   +7 more
europepmc   +1 more source

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, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Impact of alcohol excise taxation and structural reforms on per capita consumption in Thailand, 1995-2021: an interrupted time-series analysis.

Int J Drug Policy
Zayar NN, Vichitkunakorn P, Aekplakorn W, Chaiyasong S, Correia D, Hassan AS, Htet KKK, Nontarak J, Patanavanich R, Rovira P, Shield K, Sornpaisarn B, Saengow U, Wichaidit W, Assanangkornchai S, Rehm J.   +15 more
europepmc   +1 more source

Barriers to raising taxes on tobacco products in Uganda: a political economy analysis. [PDF]

Health Policy Plan
Zakumumpa H, Paina L, Ssegujja E, Ssempala R, Ssengooba F.   +4 more
europepmc   +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

A commentary on GST reforms and their effect on cancer care in India. [PDF]

Front Public Health
Sahni V, Shankar A.
europepmc   +1 more source