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Showing 25 to 36 of 227 entries
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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

NPJ genomic medicine

Haghighi A, Krier JB, Toth-Petroczy A, Cassa CA, Frank NY, Carmichael N, Fieg E, Bjonnes A, Mohanty A, Briere LC, Lincoln S, Lucia S, Gupta VA, Söylemez O, Sutti S, Kooshesh K, Qiu H, Fay CJ, Perroni V, Valerius J, Hanna M, Frank A, Ouahed J, Snapper SB, Pantazi A, Chopra SS, Leshchiner I, Stitziel NO, Feldweg A, Mannstadt M, Loscalzo J, Sweetser DA, Liao E, Stoler JM, Nowak CB, Sanchez-Lara PA, Klein OD, Perry H, Patsopoulos NA, Raychaudhuri S, Goessling W, Green RC, Seidman CE, MacRae CA, Sunyaev SR, Maas RL, Vuzman D.
PMID: 30131872
NPJ Genom Med. 2018 Aug 13;3:21. doi: 10.1038/s41525-018-0060-9. eCollection 2018.

Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these undiagnosed disorders often have complex presentations and require treatment by multiple health care specialists. Here, we describe...

Author Correction: mRNA structural dynamics shape Argonaute-target interactions.

Nature structural & molecular biology

Ruijtenberg S, Sonneveld S, Cui TJ, Logister I, de Steenwinkel D, Xiao Y, MacRae IJ, Joo C, Tanenbaum ME.
PMID: 34089015
Nat Struct Mol Biol. 2021 Jun;28(6):533. doi: 10.1038/s41594-021-00610-9.

No abstract available.

Genomic Association of Chronic Idiopathic Anhidrosis to a Potassium Channel Subunit in a Large Animal Model.

The Journal of investigative dermatology

Patterson Rosa L, Walker N, Mallicote M, MacKay RJ, Brooks SA.
PMID: 34081968
J Invest Dermatol. 2021 Nov;141(11):2639-2645.e3. doi: 10.1016/j.jid.2021.05.014. Epub 2021 May 31.

Similar to humans, the horse relies predominantly on the evaporation of sweat from the skin surface to dissipate excess body heat. Loss of the sweat response or anhidrosis can result in life-threatening hyperthermia. Anhidrosis occurs more frequently in some...

Managing a Dual Diagnosis of Cancer and Dementia in an Acute Setting: Considerations, Implications, and Future Recommendations.

Seminars in oncology nursing

MacRae R, Papadopoulou C.
PMID: 34753641
Semin Oncol Nurs. 2021 Dec;37(6):151233. doi: 10.1016/j.soncn.2021.151233. Epub 2021 Nov 06.

OBJECTIVES: To present an overview of the issues related to the well-being of people affected by cancer and dementia. To highlight the evidence from dementia care that can help improve the care experiences of people with dementia and cancer.DATA...

The Effects of Coronavirus Disease 2019 on Pediatric Anesthesiologists: A Survey of the Members of the Society for Pediatric Anesthesia.

Anesthesia and analgesia

Margolis RD, Strupp KM, Beacham AO, Yaster M, Austin TM, Macrae AW, Diaz-Berenstain L, Janosy NR.
PMID: 33439606
Anesth Analg. 2022 Feb 01;134(2):348-356. doi: 10.1213/ANE.0000000000005422.

BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has affected the personal and professional lives of all health care workers. Anesthesiologists frequently perform virus-aerosolizing procedures (eg, intubation and extubation) that place them at increased risk of infection. We sought to...

miR-122-based therapies select for three distinct resistance mechanisms based on alterations in RNA structure.

Proceedings of the National Academy of Sciences of the United States of America

Chahal J, Gebert LFR, Camargo C, MacRae IJ, Sagan SM.
PMID: 34385308
Proc Natl Acad Sci U S A. 2021 Aug 17;118(33). doi: 10.1073/pnas.2103671118.

Hepatitis C virus (HCV) is a positive-sense RNA virus that interacts with a liver-specific microRNA called miR-122. miR-122 binds to two sites in the 5' untranslated region of the viral genome and promotes HCV RNA accumulation. This interaction is...

Noninvasive Scale Measurement of Stroke Volume and Cardiac Output Compared With the Direct Fick Method: A Feasibility Study.

Journal of the American Heart Association

Yazdi D, Sridaran S, Smith S, Centen C, Patel S, Wilson E, Gillon L, Kapur S, Tracy JA, Lewine K, Systrom DM, MacRae CA.
PMID: 34873927
J Am Heart Assoc. 2021 Dec 07;e021893. doi: 10.1161/JAHA.121.021893. Epub 2021 Dec 07.

Background Objective markers of cardiac function are limited in the outpatient setting and may be beneficial for monitoring patients with chronic cardiac conditions. We assess the accuracy of a scale, with the ability to capture ballistocardiography, electrocardiography, and impedance...

Physical activity and exercise in peritoneal dialysis: International Society for Peritoneal Dialysis and the Global Renal Exercise Network practice recommendations.

Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis

Bennett PN, Bohm C, Harasemiw O, Brown L, Gabrys I, Jegatheesan D, Johnson DW, Lambert K, Lightfoot CJ, MacRae J, Meade A, Parker K, Scholes-Robertson N, Stewart K, Tarca B, Verdin N, Wang AY, Warren M, West M, Zimmerman D, Li PK, Thompson S.
PMID: 34743628
Perit Dial Int. 2022 Jan;42(1):8-24. doi: 10.1177/08968608211055290. Epub 2021 Nov 07.

Life participation requiring physical activity and physical function is a key patient-reported outcome for people receiving peritoneal dialysis (PD). Clinician guidance is required from multidisciplinary sources regarding exercise and activity advice to address the specific needs of this group....

Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.

Familial cancer

Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Walker R, Como J, Joo JE, Preston S, Hutchinson RA, Pope BJ, Metz A, Beard C, Purvis R, Arnold J, Vijay V, Konycheva G, Atkinson N, Parry S, Jenkins MA, Macrae FA, Rosty C, Winship IM, Buchanan DD.
PMID: 34817745
Fam Cancer. 2021 Nov 24; doi: 10.1007/s10689-021-00283-9. Epub 2021 Nov 24.

Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The association between colorectal cancer (CRC) and colonic polyposis is less clear despite this gene now being included in multi-gene panels for CRC. Study participants were people...

Noninvasive Scale Measurement of Stroke Volume and Cardiac Output Compared With the Direct Fick Method: A Feasibility Study.

Journal of the American Heart Association

Yazdi D, Sridaran S, Smith S, Centen C, Patel S, Wilson E, Gillon L, Kapur S, Tracy JA, Lewine K, Systrom DM, MacRae CA.
PMID: 34873927
J Am Heart Assoc. 2021 Dec 21;10(24):e021893. doi: 10.1161/JAHA.121.021893. Epub 2021 Dec 07.

Background Objective markers of cardiac function are limited in the outpatient setting and may be beneficial for monitoring patients with chronic cardiac conditions. We assess the accuracy of a scale, with the ability to capture ballistocardiography, electrocardiography, and impedance...

Association of Baseline Patient-reported Health-related Quality of Life Metrics with Outcome in Localised Prostate Cancer.

Clinical oncology (Royal College of Radiologists (Great Britain))

Roy S, Morgan SC, Spratt DE, MacRae RM, Grimes S, Malone J, Mukherjee D, Malone S.
PMID: 34728131
Clin Oncol (R Coll Radiol). 2022 Jan;34(1):e61-e68. doi: 10.1016/j.clon.2021.10.007. Epub 2021 Oct 30.

AIMS: Although health-related quality of life (HR-QoL) outcomes are pivotal in oncology, the prognostic significance of patient-reported HR-QoL metrics is largely undefined in localised prostate cancer. We report the association of baseline HR-QoL metrics with overall survival and toxicity...

The effects of COVID-19 on pediatric anesthesiologists: A survey of the members of the Society for Pediatric Anesthesia.

Anesthesia and analgesia

Margolis RD, Strupp KM, Beacham AO, Yaster M, Austin TM, Macrae AW, Diaz-Berenstain L, Janosy NR.
PMID: 33439606
Anesth Analg. 2021 Jan 12; doi: 10.1213/ANE.0000000000005422. Epub 2021 Jan 12.

BACKGROUND: The COVID-19 pandemic has affected the personal and professional lives of all healthcare workers. Anesthesiologists frequently perform virus-aerosolizing procedures, such as intubation and extubation, that place them at increased risk of infection. We sought to determine how the...

Showing 25 to 36 of 227 entries