Explanipedia

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b Open

Sarah C. Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina , et al. · 2024

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities Open

Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R. Ferreira · 2023

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these i…

Plasma transfusion to prevent intraventricular haemorrhage in very preterm infants Open

Elaine Neary, Claire Murphy, Fionnuala Ní Áinle, Afif El‐Khuffash, Melanie Cotter , et al. · 2023

This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To assess whether plasma transfusion administered within the first 24 hours of life can prevent IVH in preterm infants born at gestation less than or e…

Nonsteroidal anti-inflammatory drugs as a targeted therapy for bone marrow failure in Ghosal hematodiaphyseal dysplasia Open

Timothy J. Brown, Neil Barrett, Hu Meng, Emanuela Ricciotti, Ciara McDonnell , et al. · 2022

Advances in genomic diagnostics hold promise for improved care of rare hematologic diseases. Here, we describe a novel targeted therapeutic approach for Ghosal hematodiaphyseal dysplasia, an autosomal recessive disease characterized by sev…

Fontaine progeroid syndrome—A case report Open

Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter , et al. · 2022

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a …

A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome Open

David Marx, Arnaud Dupuis, Anita Eckly, Anne Molitor, Jérôme Olagne , et al. · 2022

While loss-of-function variants in the WAS gene are associated with Wiskott-Aldrich syndrome and lead to microthrombocytopenia, gain-of-function variants of WAS are associated with X-linked neutropenia (XLN) and the absence of microthrombo…

Fontaine Progeroid Syndrome -- A Case Report Open

Sinéad Lally, Nicola Walsh, Janna Kenny, Orla Franklin, Melanie Cotter , et al. · 2021

Fontaine Progeroid Syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene located on chromosome 1. Eleven cases have been described in the literature, with early lethality in some. We discuss t…

Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the <i>SRP54</i> gene causing severe phenotypic features Open

Peter McCarthy, Melanie Cotter, Owen Smith · 2021

Shwachman–Diamond syndrome (SDS), first described over 50 years ago1 is a rare autosomal recessive disorder characterised by exocrine pancreatic insufficiency, short stature, skeletal abnormalities and bone marrow dysfunction.2 Neutropenia…

The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience Open

Caroline Hart, Jenny McNulty, Melanie Cotter, Fatima Al Jasmi, Ellen Crushell , et al. · 2021

Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control …

Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome Open

Jack McCaffrey, Kathleen M. Gorman, Michael McDermott, Stephen Farrell, Ghadir Kassab , et al. · 2020

Results of WES, which became available after referral, revealed a de novo TERF1-interacting nuclear factor 2 (TINF2) variant (c.845G>A, p.Arg282His). Telomere length measurements for all subsets of leucocytes were significantly below the f…

P322 Common things are common, except when they’re rare Open

Jennifer Cox, Shoana Quinn, Melanie Cotter, Alan D. Irvine · 2019

Introduction Blue rubber bleb nevus syndrome (BRBNS) is a rare condition characterised by multiple cutaneous and internal venous malformation. Cutaneous lesions are often small, blue to purple in colour and have a predilection to the palms…

GP60 Clinical utility of elevated vitamin B12 levels with a progressively abnormal blood film Open

David S. Foley, Patricia Fitzsimons, Andrea Malone, Ingrid Borovickova, Melanie Cotter · 2019

Introduction Cobalamin plays an essential role in haematopoiesis, cell metabolism, production of DNA and neuronal function. High serum concentration of cobalamin is a common but underestimated finding. The aetiology of hypercobalaminaemia …

PF283 A RETROSPECTIVE STUDY OF MYELOID LEUKAEMIA IN CHILDREN WITH DOWN SYNDROME IN IRELAND Open

Gavin P Dowling, Andrea Piccin, Aengus O’Marcaigh, Katherine Gavin, A. Malone , et al. · 2019

Background: Children with trisomy 21 have several clinical complications such as a variety of dysmorphic features, congenital malformations and endocrine abnormalities for example. An important complication of Down Syndrome (DS) is that th…

Plasma transfusion to prevent intraventricular haemorrhage in very preterm infants Open

Elaine Neary, Fionnuala Ní Áinle, Afif El‐Khuffash, Melanie Cotter, Colin Kirkham , et al. · 2016

This is the protocol for a review and there is no abstract. The objectives are as follows: PRIMARY OBJECTIVE: To assess whether plasma transfusion administered within the first 24 hours of life can prevent IVH in preterm infants born at ge…

Similar but different: identical pathology with differing outcome in ‘Not‐so‐identical’ twins Open

Grainne H. Butler, Karen Flood, Emma Doyle, M Geary, David R. Betts , et al. · 2016

Transient abnormal myelopoiesis (TAM) is a transient neonatal leukaemia that occurs in infants with Down Syndrome (DS) including trisomy 21 (T21) mosaicism. There are reported cases of TAM occurring in constitutionally normal children in w…

Coagulation indices in very preterm infants from cord blood and postnatal samples Open

Elaine Neary, Naomi McCallion, Barry Kevane, Melanie Cotter, Karl Egan , et al. · 2015

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS Open

Jillian P. Casey, Suzanne Slattery, Melanie Cotter, Ahmad Monavari, Ina Knerr , et al. · 2015

Background Recessive LARS mutations were recently reported to cause a novel syndrome, infantile liver failure syndrome type 1 (ILFS1), in six Irish Travellers. We have since identified four additional patients, including one of Ashkenazi o…

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