Erin Sharwood

Mini-puberty induction in male infants with congenital hypogonadotropic hypogonadism: a case series

Clinton Roddick, Sarah McMahon, D. E. Jensen, Erin Sharwood et autres

Co-Design and Evaluation Protocol for the RECOVER Model of Care After Childhood Cancer Treatment

Natalie Bradford, Christine Cashion, Erin Sharwood, Shelley Rumble et autres

Background: Advances in diagnosis and treatment have significantly increased survival rates for childhood cancer, leading to a growing population of long-term survivors. However, these survivors face substantial physical and psychological sequelae that affect both the child and their family. We developed the …

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Childhood cancer models of survivorship care: a scoping review of elements of care and reported outcomes

Natalie Bradford, Raymond J. Chan, Xiomara Skrabal Ross, Carla Thamm et autres

PURPOSE: This study aimed to systematically map elements of care and respective outcomes described in the literature for different models of post-treatment care for survivors of childhood cancer. METHODS: MEDLINE, CINAHL, and Embase were searched with combinations of free text terms, synonyms, …

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The Australian New Zealand Consortium in Children, Adolescents, and Young Adults Oncofertility action plan

Lei Shong Lau, Catherine Allingham, Antoinette Catherine Anazodo, Michael Sullivan et autres

International and national oncofertility networks, including the US-led Oncofertility Consortium, FertiProtekt, and the Danish Network, have played pivotal roles in advancing the discipline of oncofertility over the last decade. Many other countries lack a shared approach to pediatric oncofertility health service delivery. …

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Ethical considerations for paediatrics during the COVID ‐19 pandemic: A discussion paper from the Australian Paediatric Clinical Ethics Collaboration

Melanie Jansen, Helen R. Irving, Lynn H. Gillam, Erin Sharwood et autres

Children have not been severely affected by SARS‐CoV‐2‐related illness but are vulnerable to the economic and social deprivation arising from the pandemic. This document describes unique risks and burdens for children and their care givers during the COVID‐19 pandemic. The principles for …

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Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Giampaolo Trivellin, Erin Sharwood, Hadia Hijazi, Claudia M.B. Carvalho et autres

We describe a 4-year-old boy with developmental delay who was found to carry by clinical grade (CG) molecular cytogenetics (MCs) a chromosome Xq26 microduplication. The report prompted a referral of the patient for possible X-linked acrogigantism (X-LAG), a well-defined condition (MIM300942) due …

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Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

Hiroshi Saito, Hiroshi Noda, Philippe Gatault, Detlef Böckenhauer et autres

Context: Five different activating PTH/PTH-related peptide (PTHrP) receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Objectives: Assess the natural history of clinical and laboratory findings …

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A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

Yui Watanabe, Erin Sharwood, Bruce Goodwin, Matthew K. Creech et autres

BACKGROUND: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis. CASE PRESENTATION: < 3.2 pmol/L (reference range: 8.7-16 pmol/L); thyroglobulin (TG) 101 μg/L. Thyroid …

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Additional file 2: of A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

Yoriko Watanabe, Erin Sharwood, Bruce Goodwin, Matthew K. Creech et autres

Table S2. Exonic variants in the TG gene identified in the proposita by whole exome sequencing. All exonic variants in the TG gene identified in the proposita. (XLSX 41Â kb)

Additional file 1: of A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report

Yoriko Watanabe, Erin Sharwood, Bruce Goodwin, Matthew K. Creech et autres

Table S1. Genes related to thyroid disorder. 50 genes related to thyroid development, function, serum and cell TH transport and hormone synthesis. (XLSX 30Â kb)

Therapeutic plasma exchange normalizes insulin-mediated response in a child with type 1 diabetes and insulin autoimmune syndrome

Erin Sharwood, Ian Paul Hughes, Carel Jacobus Pretorius, Peter Trnka et autres

BACKGROUND: Insulin autoimmune syndrome (IAS), characterized by glycemic dysregulation and life-threatening hypoglycemia, can occur in patients with type 1 diabetes (T1D). Diagnostic confirmation is complex but important in order to ensure timely initiation of definitive therapy. AIMS: We aimed to quantitate the …

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Early complications of first presentation diabetic ketoacidosis are predicted by severity

Erin Sharwood, Louise S. Conwell