Search Results - "O’Connell, Susan"

Both Dietary Protein and Fat Increase Postprandial Glucose Excursions in Children With Type 1 Diabetes, and the Effect Is Additive by SMART, Carmel E. M, EVANS, Megan, O'CONNELL, Susan M, MCELDUFF, Patrick, LOPEZ, Prudence E, JONES, Timothy W, DAVIS, Elizabeth A, KING, Bruce R

“…To determine the separate and combined effects of high-protein (HP) and high-fat (HF) meals, with the same carbohydrate content, on postprandial glycemia in…”
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Polε Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis by Bellelli, Roberto, Borel, Valerie, Logan, Clare, Svendsen, Jennifer, Cox, Danielle E., Nye, Emma, Metcalfe, Kay, O’Connell, Susan M., Stamp, Gordon, Flynn, Helen R., Snijders, Ambrosius P., Lassailly, François, Jackson, Andrew, Boulton, Simon J.

“…DNA polymerase ε (POLE) is a four-subunit complex and the major leading strand polymerase in eukaryotes. Budding yeast orthologs of POLE3 and POLE4 promote…”
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A population-based study of risk factors for severe hypoglycaemia in a contemporary cohort of childhood-onset type 1 diabetes by Cooper, Matthew N., O’Connell, Susan M., Davis, Elizabeth A., Jones, Timothy W.

“…Aims/hypothesis Severe hypoglycaemia is a major barrier to optimising glycaemic control. Recent changes in therapy, however, may have altered the epidemiology…”
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The incidence of transient infantile pseudohypoaldosteronism in Ireland: A prospective study by Kaninde, Abhidhamma, Grace, Mariana L., Joyce, Caroline, Taylor, Norman F., Ghataore, Lea, Riordan, Micheal F., O’Grady, Michael J., O’Connell, Susan M.

“…Aim To review the clinical course, outcome and incidence of infantile salt wasting associated with urinary tract infection (UTI) and/or urinary tract…”
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The Role of Dietary Protein and Fat in Glycaemic Control in Type 1 Diabetes: Implications for Intensive Diabetes Management by Paterson, Megan, Bell, Kirstine J., O’Connell, Susan M., Smart, Carmel E., Shafat, Amir, King, Bruce

“…A primary focus of the management of type 1 diabetes has been on matching prandial insulin therapy with carbohydrate amount consumed. However, even with the…”
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Hughes abdominal closure versus standard mass closure to reduce incisional hernias following surgery for colorectal cancer: the HART RCT by O’Connell, Susan, Islam, Saiful, Sewell, Bernadette, Farr, Angela, Knight, Laura, Bashir, Nadim, Harries, Rhiannon, Jones, Sian, Cleves, Andrew, Fegan, Greg, Watkins, Alan, Torkington, Jared

“…Background Incisional hernias can cause chronic pain and complications and affect quality of life. Surgical repair requires health-care resources and has a…”
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Safety of intramuscular testosterone in arachis oil for boys with peanut allergy requiring pubertal induction by Harvey, Susan, O’Connell, Susan M., Hourihane, Jonathan O’B.

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A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy by Coleman, John, Kavanagh, Karl, Kesterton, Ian, Hegarty, Ann‐Marie, O'Connell, Susan M., Lynch, Sally Ann

“…Abstract We present a female patient with a complex sex chromosomal rearrangement [GRCh38] Xp22.33(10701_981101)x1,Yq11.221q11.23(13948013_26483746)x1 who…”
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DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency by Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Nourse, Craig, Santoyo-Lopez, Javier, Semple, Colin A., Williams, Nicola, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.

“…During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations…”
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Diagnosis and management of pancreatic cancer in adults: A summary of guidelines from the UK National Institute for Health and Care Excellence by O'Reilly, Derek, Fou, Linyun, Hasler, Elise, Hawkins, James, O'Connell, Susan, Pelone, Ferruccio, Callaway, Mark, Campbell, Fiona, Capel, Margred, Charnley, Richard, Corrie, Pippa, Elliot, Dawn, Goodburn, Lesley, Jewell, Anna, Joharchi, Suzanne, McGeeney, Laura, Mukherjee, Somnath, Oppong, Kofi, Whelan, Phil, Primrose, John, Neoptolemos, John

“…To enable standardisation of care of pancreatic cancer patients and facilitate improvement in outcome, the United Kingdom's National Institute for Health and…”
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Antiscience and ethical concerns associated with advocacy of Lyme disease by Auwaerter, Paul G, Dr, Bakken, Johan S, MD, PhD, Dattwyler, Raymond J, Prof, Dumler, J Stephen, Prof, Halperin, John J, Prof, McSweegan, Edward, PhD, Nadelman, Robert B, Prof, O'Connell, Susan, MD, Shapiro, Eugene D, Prof, Sood, Sunil K, Prof, Steere, Allen C, Prof, Weinstein, Arthur, Prof, Wormser, Gary P, Prof

“…Summary Advocacy for Lyme disease has become an increasingly important part of an antiscience movement that denies both the viral cause of AIDS and the…”
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Reducing Rates of Severe Hypoglycemia in a Population-Based Cohort of Children and Adolescents With Type 1 Diabetes Over the Decade 2000–2009 by O'Connell, Susan M, Cooper, Matthew N, Bulsara, Max K, Davis, Elizabeth A, Jones, Timothy W

“…OBJECTIVE: To examine rates of severe hypoglycemia (SH) in a large population-based cohort of children with type 1 diabetes and relationships to HbA1c…”
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Short stature and hypoparathyroidism in a child with Kenny-Caffey syndrome type 2 due to a novel mutation in FAM111A gene by Abraham, Mary B, Li, Dong, Tang, Dave, O'Connell, Susan M, McKenzie, Fiona, Lim, Ee Mun, Hakonarson, Hakon, Levine, Michael A, Choong, Catherine S

“…Hypoparathyroidism in children is a heterogeneous group with diverse genetic etiologies. To aid clinicians in the investigation and management of children with…”
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Subarachnoid and parenchymal haemorrhages as a complication of severe diabetic ketoacidosis in a preadolescent with new onset type 1 diabetes by Finn, Bryan P., Power, Claire, McSweeney, Niamh, Breen, Dorothy, Wyse, Gerald, O'Connell, Susan M.

“…Diabetic ketoacidosis (DKA) is one of the most common causes of morbidity and mortality in new onset type 1 diabetes mellitus (T1DM). Children have a higher…”
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Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience by Coyle, David, Kutasy, Balazs, Han Suyin, Kathleen, Antao, Brice, Lynch, Sally Ann, McDermott, Michael B, O'Connell, Susan M, Quinn, Feargal

“…Summary Background It is recognised that individuals with a 45,X/46,XY karyotype, known as Turner mosaic syndrome with Y chromosome material (TMSY), have an…”
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Does dietary fat cause a dose dependent glycemic response in youth with type 1 diabetes? by O'Connell, Susan M., O'Toole, Nora M. A., Cronin, Conor N., Saat‐Murphy, Chen, McElduff, Patrick, King, Bruce R., Smart, Carmel E., Shafat, Amir

“…Objective To determine the glycemic impact of dietary fat alone consumed without prandial insulin in individuals with T1D. Research Design and Methods Thirty…”
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Diagnosis and management of Silver–Russell syndrome: first international consensus statement by Wakeling, Emma L., Brioude, Frédéric, Lokulo-Sodipe, Oluwakemi, O'Connell, Susan M., Salem, Jennifer, Bliek, Jet, Canton, Ana P. M., Chrzanowska, Krystyna H., Davies, Justin H., Dias, Renuka P., Dubern, Béatrice, Elbracht, Miriam, Giabicani, Eloise, Grimberg, Adda, Grønskov, Karen, Hokken-Koelega, Anita C. S., Jorge, Alexander A., Kagami, Masayo, Linglart, Agnes, Maghnie, Mohamad, Mohnike, Klaus, Monk, David, Moore, Gudrun E., Murray, Philip G., Ogata, Tsutomu, Petit, Isabelle Oliver, Russo, Silvia, Said, Edith, Toumba, Meropi, Tümer, Zeynep, Binder, Gerhard, Eggermann, Thomas, Harbison, Madeleine D., Temple, I. Karen, Mackay, Deborah J. G., Netchine, Irène

“…Silver–Russell syndrome (SRS) is an imprinting disorder that causes prenatal and postnatal growth retardation. This Consensus Statement summarizes…”
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Inheritance of a paternal ABCC8 variant and maternal loss of heterozygosity at 11p15 retrospectively unmasks the etiology in a case of Congenital hyperinsulinism by Joyce, Caroline M., Houghton, Jayne A., O’Halloran, Domhnall J., O’Shea, Paula M., O’Connell, Susan M.

“…Advances in genomics and 18F‐DOPA PET‐CT imaging have transformed the management of infants with Congenital Hyperinsulinism. Preoperative diagnosis of focal…”
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A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC? by Geoghegan, Sarah, King, Graham, Henchliffe, Jennifer, Ramsden, Simon C., Barry, Raymond J., Green, Andrew J., O'Connell, Susan M.

“…Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by intellectual disability, congenital heart defects, a characteristic facial appearance,…”
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Transient neonatal hypercalcaemia secondary to excess maternal vitamin D intake: too much of a good thing by Reynolds, Adam, O'Connell, Susan M, Kenny, Louise Clare, Dempsey, Eugene

“…We report a case of transient neonatal hypercalcaemia secondary to excess maternal vitamin D intake in pregnancy. Vitamin D insufficiency and deficiency in…”
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