Clinical utility of reticulocyte haemoglobin in the assessment of iron deficiency and iron deficiency anaemia in the paediatric population

Authors: Perchard, Malaika, Barbaro, Pasquale, Rane, Mark, Norman, Andrew

Source: Journal of paediatrics and child health. 59(1):153-158

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100172699393.0x000001&indx=1&recIds=ETOCvdc_100172699393.0x000001

The Australian Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry

Authors: Fox, Lucy C., McQuilten, Zoe K., Firkin, Frank, Fox, Vanessa, Badoux, Xavier, Bajel, Ashish, Barbaro, Pasquale, Cole-Sinclair, Merrole F., Forsyth, Cecily, Gibson, John, Hiwase, Devendra K., Johnston, Anna, Mills, Anthony, Roncolato, Fernando, Sutherland, Robyn, Szer, Jeff, Ting, Stephen B., Vilcassim, Shahla, Young, Lauren, Waters, Neil A., Wood, Erica M.

Source: In Best Practice & Research Clinical Haematology December 2023 36(4)

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

Authors: Kemps, Paul G., Picarsic, Jennifer, Durham, Benjamin H., Hélias-Rodzewicz, Zofia, Hiemcke-Jiwa, Laura, van den Bos, Cor, van de Wetering, Marianne D., van Noesel, Carel J.M., van Laar, Jan A.M., Verdijk, Robert M., Flucke, Uta E., Hogendoorn, Pancras C.W., Woei-A-Jin, F. J. Sherida H., Sciot, Raf, Beilken, Andreas, Feuerhake, Friedrich, Ebinger, Martin, Möhle, Robert, Fend, Falko, Bornemann, Antje, Wiegering, Verena, Ernestus, Karen, Méry, Tina, Gryniewicz-Kwiatkowska, Olga, Dembowska-Baginska, Bozenna, Evseev, Dmitry A., Potapenko, Vsevolod, Baykov, Vadim V., Gaspari, Stefania, Rossi, Sabrina, Gessi, Marco, Tamburrini, Gianpiero, Héritier, Sébastien, Donadieu, Jean, Bonneau-Lagacherie, Jacinthe, Lamaison, Claire, Farnault, Laure, Fraitag, Sylvie, Jullié, Marie-Laure, Haroche, Julien, Collin, Matthew, Allotey, Jackie, Madni, Majid, Turner, Kerry, Picton, Susan, Barbaro, Pasquale M., Poulin, Alysa, Tam, Ingrid S., El Demellawy, Dina, Empringham, Brianna, Whitlock, James A., Raghunathan, Aditya, Swanson, Amy A., Suchi, Mariko, Brandt, Jon M., Yaseen, Nabeel R., Weinstein, Joanna L., Eldem, Irem, Sisk, Bryan A., Sridhar, Vaishnavi, Atkinson, Mandy, Massoth, Lucas R., Hornick, Jason L., Alexandrescu, Sanda, Yeo, Kee Kiat, Petrova-Drus, Kseniya, Peeke, Stephen Z., Muñoz-Arcos, Laura S., Leino, Daniel G., Grier, David D., Lorsbach, Robert, Roy, Somak, Kumar, Ashish R., Garg, Shipra, Tiwari, Nishant, Schafernak, Kristian T., Henry, Michael M., van Halteren, Astrid G.S., Abla, Oussama, Diamond, Eli L., Emile, Jean-François

Source: Blood. 139(2):256-280

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183242342.0x000001&indx=1&recIds=ETOCvdc_100183242342.0x000001

Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder

Authors: Niaz, Aram, Truong, Jia, Manoleras, Annabel, Fox, Lucy C., Blombery, Piers, Vasireddy, Raja S., Pickett, Hilda A., Curtin, Julie A., Barbaro, Pasquale M., Rodgers, Jonathan, Roy, John, Riley, Lisa G., Holien, Jessica K., Cohen, Scott B., Bryan, Tracy M. ^*

Source: In Blood Advances 28 June 2022 6(12):3779-3791

A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region

Authors: Arthur, Jonathan W., Pickett, Hilda A., Barbaro, Pasquale M., Kilo, Tatjana, Vasireddy, Raja S., Beilharz, Traude H., Powell, David R., Hackett, Emma L., Bennetts, Bruce, Curtin, Julie A., Jones, Kristi, Christodoulou, John, Reddel, Roger R., Teo, Juliana, Bryan, Tracy M.

Source: EJHaem. 2(2):157-166

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122888258.0x000001&indx=1&recIds=ETOCvdc_100122888258.0x000001

ALK-Positive Histiocytosis with Peripheral Blood Histiocytes: A Case Report

Authors: Swain, Fiona, Williams, Bronwyn, Barbaro, Pasquale

Source: Acta haematologica. 144(2):218-221

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117388059.0x000001&indx=1&recIds=ETOCvdc_100117388059.0x000001

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

Authors: Venugopal, Parvathy, Arts, Peer, Fox, Lucy C., Simons, Annet, Hiwase, Devendra K., Bardy, Peter G., Swift, Annette, Ross, David M., van Vulpen, Lize F. D., Buijs, Arjan, Bolton, Kelly L., Getta, Bartlomiej, Furlong, Eliska, Carter, Tina, Krapels, Ingrid, Hoeks, Marlijn, Al Kindy, Adila, Al Kindy, Farah, de Munnik, Sonja, Evans, Pamela, Frank, Mahalia S. B., Bournazos, Adam M., Cooper, Sandra T., Ha, Thuong Thi, Jackson, Matilda R., Arriola-Martinez, Luis, Phillips, Kerry, Brennan, Yvonne, Bakshi, Madhura, Ambler, Karen, Gao, Song, Kassahn, Karin S., Kenyon, Rosalie, Hung, Kevin, Babic, Milena, McGovern, Alan, Rawlings, Lesley, Vakulin, Cassandra, Dejong, Lucas, Fathi, Rema, McRae, Simon, Myles, Nicholas, Ladon, Dariusz, Jongmans, Marjolijn, Kuiper, Roland P., Poplawski, Nicola K., Barbaro, Pasquale, Blombery, Piers, Brown, Anna L., Hahn, Christopher N., Scott, Hamish S.

Source: In Blood Advances 9 July 2024 8(13):3437-3443

Hemoglobin I‐Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations

Authors: Xu, Ziheng, Masters, Ian Brent, Barbaro, Pasquale, Miller, Stephen, Kapur, Nitin

Source: Clinical case reports. 10(7)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158641782.0x000001&indx=1&recIds=ETOCvdc_100158641782.0x000001

Sickle cell disease in Australia: a snapshot from the Australian Haemoglobinopathy Registry.

Authors: Nelson, Anna, Ho, P. Joy, Haysom, Helen, Waters, Neil, Wellard, Cameron, Chee, Melissa, Teo, Juliana, Greenway, Anthea, Mason, Kylie, Kidson‐Gerber, Giselle, Kaplan, Zane, Carter, Tina, Cole‐Sinclair, Merrole F, Barbaro, Pasquale, Wood, Erica M.

Source: Internal Medicine Journal; May2024, Vol. 54 Issue 5, p764-772, 9p

Subject Terms: SICKLE cell anemia, AT-risk people, HEMOGLOBINOPATHY, DISEASES, PAIN

Geographic Terms: AUSTRALIA

Survival after Hematopoietic Stem Cell Transplant in Patients with Dyskeratosis Congenita: Systematic Review of the Literature

Authors: Barbaro, Pasquale, Vedi, Aditi

Source: In Biology of Blood and Marrow Transplantation July 2016 22(7):1152-1158

Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1

Authors: Guo, Yiran, Kartawinata, Melissa, Li, Jiankang, Pickett, Hilda A., Teo, Juliana, Kilo, Tatjana, Barbaro, Pasquale M., Keating, Brendan, Chen, Yulan, Tian, Lifeng, Al-Odaib, Ahmad, Reddel, Roger R., Christodoulou, John, Xu, Xun, Hakonarson, Hakon ^*, Bryan, Tracy M. ^*

Source: In Blood 30 October 2014 124(18):2767-2774

Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity

Authors: Yanes, Tatiane, Sullivan, Anna, Barbaro, Pasquale, Brion, Kristian, Hollway, Georgina, Peake, Jane, McNaughton, Peter

Source: European Journal of Human Genetics: EJHG; October 2023, Vol. 31 Issue: 10 p1125-1132, 8p

Australian and New Zealand consensus guideline for paediatric newly diagnosed immune thrombocytopaenia endorsed by Australian New Zealand Children's Haematology and Oncology Group.

Authors: Verissimo, Vanessa, Carter, Tina, Wright, Helen, Robertson, Jeremy, Osborn, Michael, Bradbeer, Peter, Sabesan, Vanaja, Saxon, Ben, Barbaro, Pasquale, Crighton, Gemma, Chamberlain, Janis, Zheng, Silvia, Freeman, Kate

Source: Journal of Paediatrics & Child Health; May2023, Vol. 59 Issue 5, p711-717, 7p

Subject Terms: THROMBOCYTOPENIA, PEDIATRICS, HEMATOLOGY, CHILD patients, DIAGNOSIS

Geographic Terms: NEW Zealand

Cardiopulmonary bypass in a child with severe Factor XII deficiency.

Authors: Shrimpton, Nicole, Patukale, Aditya, Rane, Mark, Barbaro, Pasquale, Alphonso, Nelson, Venugopal, Prem

Source: Perfusion; Apr2022, Vol. 37 Issue 3, p316-320, 5p

Subject Terms: BLOOD transfusion, BLOOD plasma, ANTICOAGULANTS, CONGENITAL heart disease, CARDIOPULMONARY bypass, BLOOD coagulation factors

Benchmarking Paediatric Sickle Cell Care in Australia

Authors: Greenway, Anthea Louise, Kaplan, Zane, Barbaro, Pasquale ^*, Carter, Tina, Teo, Juliana, Pal, Manika ^*

Source: In Blood 15 November 2022 140 Supplement 1:5456-5457

Functional interaction between compound heterozygous TERTmutations causes severe telomere biology disorder

Authors: Niaz, Aram, Truong, Jia, Manoleras, Annabel, Fox, Lucy C., Blombery, Piers, Vasireddy, Raja S., Pickett, Hilda A., Curtin, Julie A., Barbaro, Pasquale M., Rodgers, Jonathan, Roy, John, Riley, Lisa G., Holien, Jessica K., Cohen, Scott B., Bryan, Tracy M.

Source: Blood Advances; June 2022, Vol. 6 Issue: 12 p3779-3791, 13p

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Clinical and Germline Risk Factors for the Occurrence of Multiple Treatment Toxicities during Childhood Acute Lymphoblastic Leukemia (ALL) Therapy

Authors: Mateos, Marion K ^*, Trahair, Toby N ^*, Mayoh, Chelsea ^*, Barbaro, Pasquale M ^*, George, Carly ^*, Sutton, Rosemary ^*, Revesz, Tamas ^*, Barbaric, Draga ^*, Giles, Jodie ^*, Alvaro, Frank ^*, Mechinaud, Francoise Marie ^*, Catchpoole, Daniel R ^*, Kotecha, Rishi Sury ^*, Quinn, Michael CJ ^*, Chenevix-Trench, Georgia ^*, MacGregor, Stuart ^*, Dalla-Pozza, Luciano, Marshall, Glenn M

Source: In Blood 8 December 2017 130 Supplement 1:2102-2102