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1.
BMJ Case Rep ; 14(1)2021 Jan 26.
Article in English | MEDLINE | ID: mdl-33500307

ABSTRACT

Pancreatic haemangiomas are a rare cause of pancreatic lesions in adults. Diagnosis is challenging as they are seldom suspected and difficult to differentiate on imaging. Historically, pancreatic haemangiomas have been managed surgically despite their benign nature, largely due to diagnostic uncertainty. We present the case of a 69-year-old woman who, through combination of radiological, biochemical and endoscopic investigations, was diagnosed with pancreatic haemangioma and managed conservatively, avoiding the morbidity and mortality associated with surgical resection of a benign lesion.


Subject(s)
Hemangioma/diagnostic imaging , Pancreatic Neoplasms/diagnostic imaging , Aged , Cholangiopancreatography, Magnetic Resonance , Conservative Treatment , Endosonography , Female , Humans , Incidental Findings , Magnetic Resonance Imaging , Organometallic Compounds , Positron-Emission Tomography , Radiopharmaceuticals , Tomography, X-Ray Computed
3.
Eur J Hum Genet ; 23(10): 1294-300, 2015 Oct.
Article in English | MEDLINE | ID: mdl-25626706

ABSTRACT

The delayed diagnosis of Duchenne muscular dystrophy (DMD) may be an ongoing problem internationally. We aimed to ascertain age at diagnosis and explore parents' experiences of the diagnosis of DMD in Australia. Using mixed methods, data were collected from laboratory and clinical record audits of testing for DMD in Victoria and Tasmania, interviews and a national survey of parents regarding their experiences from first noticing symptoms to receiving a diagnosis. The audits revealed that the median age at diagnosis for DMD was 5 years (n=49 during 2005-2010); this age had not changed substantially over this period. Fourteen parents interviewed reported age at diagnosis ranging from 2 to 8 years with a 6 month to 4 year delay between initial concerns about their child's development and receiving the DMD diagnosis. Sixty-two survey respondents reported the median age at diagnosis was 3 years and 9 months, while the median age when symptoms were noticed was 2 years and 9 months. Parents experienced many emotions in their search for a diagnosis and consulted with a wide range of health professionals. Half the survey respondents felt that their child could have been diagnosed earlier. Despite advances in testing technologies and increasing awareness of DMD, the age at diagnosis has remained constant in Australia. This mixed methods study shows that this diagnostic delay continues to have a negative impact on parents' experiences, places families at risk of having a second affected child and may have a deleterious effect on affected children's treatment.


Subject(s)
Muscular Dystrophy, Duchenne/diagnosis , Adolescent , Adult , Aged , Australia , Child , Child, Preschool , Delayed Diagnosis/psychology , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Parents/psychology , Surveys and Questionnaires , Young Adult
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