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Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

Mochizuki, AY Nagaraj, CB Depoorter, D Schieffer, KM Kim, SY

Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1-q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We pre...

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Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3.

Nagaraj, CB Brightman, DS Rea, H Wakefield, E Harkavy, NVG Dyer, L Zhang, W

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL) is an immunological disorder characterized by overactivation of macrophages and T lymphocytes. This autosomal recessive condition has b...

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Global Disparities of Cancer and Its Projected Burden in 2050

Bizuayehu, HM Ahmed, KY Kibret, GD Dadi, AF Belachew, SA Bagade, T Tegegne, TK Venchiarutti, RL Kibret, KT Hailegebireal, AH Assefa, Y Khan, N Abajobir, A Alene, KA Mengesha, Z Erku, D Enquobahrie, DA

Importance Cancer prevention and care efforts have been challenged by the COVID-19 pandemic and armed conflicts, resulting in a decline in the global Human Development Index (HDI), particularly in ...

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Pharmacogenomic curriculum in Australian medical schools: a content analysis study.

Thomas, J Yong, FR Kryzyaniak, N Noble, C Freeman, CR

AIMS: To ascertain and describe pharmacogenomic concepts included in the intended curriculum of accredited Australian medical schools. METHODS: Content analysis of curriculum learning objectives of...

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What does it cost to deliver antenatal care in Papua New Guinea? Results from a health system costing and budget impact analysis using cross-sectional data.

Saweri, OPM Batura, N Pomat, W Vallely, AJ Wiseman, V WANTAIM Study Group,

OBJECTIVE: In Papua New Guinea (PNG), antenatal clinic attendance averaged 50% for one or more visits, and 30% for four visits in the last decade. In 2016, the WHO revised its focused antenatal car...

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Child protection and developmental trajectories of children who entered care as infants

Lima, F Taplin, S Maclean, M Octoman, O Grose, M O'Donnell, M

Infants have the highest rate of admission into out-of-home care in Australia, with rising rates of entry to care occurring around the world. Our previous research identified children who entered c...

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Disruption of the mast cell carboxypeptidase A3 gene does not attenuate airway inflammation and hyperresponsiveness in two mouse models of asthma.

Waern, I Akula, S Allam, VSRR Taha, S Feyerabend, TB Åbrink, M Wernersson, S

Mast cells are effector cells known to contribute to allergic airway disease. When activated, mast cells release a broad spectrum of inflammatory mediators, including the mast cell-specific proteas...

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Burden of 30 cancers among men: Global statistics in 2022 and projections for 2050 using population‐based estimates

Bizuayehu, HM Dadi, AF Ahmed, KY Tegegne, TK Hassen, TA Kibret, GD Ketema, DB Bore, MG Thapa, S Odo, DB Kassa, ZY Shifti, DM Amsalu, E Sarich, P Venchiarutti, RL Melaku, YA Kibret, KT

BACKGROUND Men exhibit higher prevalence of modifiable risk factors, such as smoking and alcohol consumption, leading to greater cancer incidence and lower survival rates. Comprehensive evidence on...

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Strategies to Strengthen Hospital Response for Chemical, Biological, Radiological, and Nuclear Incident: A Multisite Study

Mackie, B Weber, S Mitchell, M Hammad, K Wong, DF Crilly, J Boyd, M Wullschleger, M Ranse, J

OBJECTIVES In responding to a Chemical, Biological, Radiological, and Nuclear explosive (CBRNe) disaster, clinical leaders have important decision-making responsibilities which include implementing...

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The effect of pressure injury prevention care bundles on pressure injuries in hospital patients: A complex intervention systematic review and meta-analysis

Chaboyer, W Latimer, S Priyadarshani, U Harbeck, E Patton, D Sim, J Moore, Z Deakin, J Carlini, J Lovegrove, J Jahandideh, S Gillespie, BM

BACKGROUND Numerous interventions for pressure injury prevention have been developed, including care bundles. OBJECTIVE To systematically review the effectiveness of pressure injury prevention care...

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