Results 211 to 220 of about 235,115 (280)

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

Simultaneous initiation of finerenone and empagliflozin across the spectrum of kidney risk in the CONFIDENCE trial. [PDF]

Nephrol Dial Transplant
Vaduganathan M, Green JB, Heerspink HJL, Kim SG, Mann JFE, McGill JB, Mottl A, Nangaku M, Rosenstock J, Rossing P, Li L, Li N, Rohwedder K, Scott C, Agarwal R.   +14 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa, Jennifer Smith‐Merry, Kuo‐yi Jade Chang   +2 more
wiley   +1 more source

Development and standardisation of 'time-in-range' measurement for clinical endpoints in retinal diseases. [PDF]

Eye (Lond)
Frizziero L, Barratt J, Cheung CMG, Korol A, Midena E, Talks J, Tsilimbaris M, Pearce I, Kozak I.   +8 more
europepmc   +1 more source

Early and Sustained Improvements in Sense of Smell With Tezepelumab Treatment in Patients With Chronic Rhinosinusitis With Nasal Polyps (WAYPOINT)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Loss of smell is a principal symptom of chronic rhinosinusitis with nasal polyps (CRSwNP), affecting health‐related quality of life and posing a safety hazard. Methods WAYPOINT (NCT04851964), a phase 3, multicenter trial in adults with uncontrolled CRSwNP, randomized patients 1:1 to receive tezepelumab 210 mg or placebo ...
Joaquim Mullol, Joseph K. Han, Tanya M. Laidlaw, Claire Hopkins, Anju T. Peters, Oliver Pfaar, Martin Desrosiers, Stella E. Lee, Andrew P. Lane, Claudia Chen, Yun Chon, Sandhia S. Ponnarambil, Andrew Foster, Andrew W. Lindsley, Christopher S. Ambrose   +14 more
wiley   +1 more source

Supporting Patient-Centred Decisions on Gene Therapy for Haemophilia A: A Conceptual Model. [PDF]

Haemophilia
Di Minno G, Bigi S, Barello S, Ferri Grazzi E, Follino M, Mansueto MF, Napolitano M, Santoro RC, Castaman G.   +8 more
europepmc   +1 more source

Appropriate Medical Therapy Primarily Modifies Type 2 and Severity Biomarkers in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Appropriate medical therapy (AMT) is first‐line treatment for patients with chronic rhinosinusitis (CRS). We evaluated inflammatory structure, treatment‐induced changes, and biomarker‐outcome associations in AMT‐managed patients. Methods Fifty‐one CRS patients were evaluated before and after AMT which included a combination of oral ...
Asher C. Park, Brooke N. Gleason, Eli Stein, Saied Ghadersohi, Atsushi Kato, Stephanie Shintani‐Smith, David B. Conley, Kevin C. Welch, Robert C. Kern, Bruce K. Tan   +9 more
wiley   +1 more source

Procedures of data merging in precision cancer medicine: the PRIME-ROSE project. [PDF]

Acta Oncol
Van der Pol H, Kringelbach T, Martin Agudo M, Bratseth Stav G, Fagereng GL, Fiocco M, Sørum Falk R, Homer V, Haj Mohammad S, Timmer H, Verlingue L, Helland Å, Rohrberg K, Lassen U, Halford S, Jalkanen K, Juslin T, Krebs MG, Oliveira J, Baltruskeviciene E, Ojamaa K, Taskén K, Gelderblom H.   +22 more
europepmc   +1 more source

Effect of Budesonide Nasal Irrigation in Patients With Chronic Rhinosinusitis With Nasal Polyps Without Prior Sinus Surgery: A Randomized, Double‐Blind, Placebo‐Controlled Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana, Isabela Pontes, Caio Floriano, Renato Rios, Marlos Cortez, Marcel Miyake   +5 more
wiley   +1 more source