Publications by authors named "Robert Schmidli"

3 Publications

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Exophthalmos and multinodular goitre, an unusual combination.

Endocrinol Diabetes Metab Case Rep 2019 May 3;2019. Epub 2019 May 3.

Canberra Hospital, Woden, Canberra, Australian Capital Territory, Australia.

Multinodular goitre is not associated with eye disease, unless in a rare case of Marine-Lenhart syndrome where it coexists with Grave's disease. Therefore, other causes of exophthalmos need to be ruled out when the eye disease is seen in a patient with multinodular goitre. Confusion can arise in patients with features suggestive of Graves' ophthalmopathy in the absence of thyroid-stimulating hormone receptor autoantibodies and no evidence of other causes of exophthalmos. We present a case of multinodular goitre in a patient with exophthalmos which flared up after iodine contrast-based study. A 61-year-old Australian presented with a pre-syncopal attack and was diagnosed with toxic multinodular goitre. At the same time of investigations, to diagnose the possible cause of the pre-syncopal attack, computerised tomographic (CT) coronary artery angiogram was requested by a cardiologist. A few days after the iodine contrast-based imaging test was performed, he developed severe eye symptoms, with signs suggestive of Graves' orbitopathy. MRI of the orbit revealed features of the disease. Although he had pre-existing eye symptoms, they were not classical of thyroid eye disease. He eventually had orbital decompressive surgery. This case poses a diagnostic dilemma of a possible Graves' orbitopathy in a patient with multinodular goitre. Learning points: Graves' orbitopathy can occur in a patient with normal autothyroid antibodies. The absence of the thyroid antibodies does not rule out the disease in all cases. Graves' orbitopathy can coexist with multinodular goitre. Iodine-based compounds, in any form, can trigger severe symptoms, on the background of Graves' eye disease.
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May 2019

PCSK9 inhibitors - clinical applications.

Robert Schmidli

Aust Prescr 2016 Oct 1;39(5):168-170. Epub 2016 Oct 1.

Department of Endocrinology, Canberra Hospital.

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October 2016

Development of autoantibodies to islet antigens during childhood: implications for preclinical type 1 diabetes screening.

Pediatr Diabetes 2002 Sep;3(3):144-8

Department of Diabetes and Endocrinology, Walter and Eliza Hall Institute of Medical Research, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

Objective: Serum islet antibodies signify increased risk for type 1 diabetes (T1D). Knowledge of the relationship between age and seroconversion would guide screening for at-risk individuals. We aimed to determine the effectiveness of islet antibody screening in early childhood, in particular the proportion of negative children who subsequently seroconverted.

Methods: We identified 554 children with a first-degree relative with T1D who had tested negative for islet cell antibodies (ICA) and insulin autoantibodies (IAA) when first screened at a mean age of 7.2 yr. Of 423 who were eligible, 350 consented to re-testing for ICA and IAA and antibodies to glutamic acid decarboxylase (GADAb) and tyrosine phosphatase-like insulinoma antigen IA-2 (IA2Ab) at a mean age of 11.1 yr. GADAb and IA2Ab were measured in 239 of the initial stored samples.

Results: Of the 350 children who tested negative at first screening, 12 (3.4%) subsequently seroconverted, becoming positive for ICA (n = 4), IAA (n = 7), GADAb (n = 6) or IA2Ab (n = 2). Of 239 initially negative for ICA and IAA, 8/239 (3.3%) now tested positive for GADAb (n = 7) or IA2Ab (n = 1). Four of these children were positive for GADAb in both tests; the one child initially positive for IA2Ab only was positive for all four antibodies 4.6 yr later and developed diabetes.

Conclusion: Screening for ICA and IAA failed to identify 2-3% of genetically at-risk children who subsequently developed islet antibodies. Testing for GADAb and IA2Ab would not have avoided this. Maximizing the sensitivity of detecting risk for T1D requires repeat screening for islet antibodies throughout childhood.
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September 2002