Minerva Elements (Restricted Access: Repository Staff Only)
Permanent URI for this collection
Search Results
1 - 10 of 12
-
ItemNo Preview AvailableNeural pathways for colorectal control, relevance to spinal cord injury and treatment: a narrative review(NATURE PUBLISHING GROUP, 2018-03)STUDY DESIGN: Narrative review. OBJECTIVES: The purpose is to review the organisation of the nerve pathways that control defecation and to relate this knowledge to the deficits in colorectal function after SCI. METHODS: A literature review was conducted to identify salient features of defecation control pathways and the functional consequences of damage to these pathways in SCI. RESULTS: The control pathways for defecation have separate pontine centres under cortical control that influence defecation. The pontine centres connect, separately, with autonomic preganglionic neurons of the spinal defecation centres and somatic motor neurons of Onuf's nucleus in the sacral spinal cord. Organised propulsive motor patterns can be generated by stimulation of the spinal defecation centres. Activation of the somatic neurons contracts the external sphincter. The analysis aids in interpreting the consequences of SCI and predicts therapeutic strategies. CONCLUSIONS: Analysis of the bowel control circuits identifies sites at which bowel function may be modulated after SCI. Colokinetic drugs that elicit propulsive contractions of the colorectum may provide valuable augmentation of non-pharmacological bowel management procedures.
-
ItemNo Preview AvailableThe Role of 68Ga-DOTA-Octreotate PET/CT in Follow-Up of SDH-Associated Pheochromocytoma and Paraganglioma(ENDOCRINE SOCIETY, 2019-11-01)Purpose: Germline succinate dehydrogenase (SDHx) mutation carriers, especially SDHB, are at increased risk for malignancy and require life-long surveillance. Current guidelines recommend periodic whole-body MRI imaging. We assessed the incremental value of 68Ga-DOTA-octreotate (GaTate) positron emission tomography (PET)/CT compared with conventional imaging in such patients. Methods: SDHx mutation carriers who had GaTate PET/CT were retrospectively reviewed. Detection of lesions were compared with MRI or CT on a per-patient and per-lesion basis. Proof of lesions were based on histopathology or clinical/imaging follow-up. Results: Twenty consecutive patients (median age, 46 years; 10 males) were reviewed. Fourteen patients had SDHB, four, SDHD, one SDHC, and one SDHA mutation. Fifteen had prior surgery and/or radiotherapy. Indications for PET/CT were as follows: 7 patients for surveillance for previously treated disease, 9 residual disease, 2 asymptomatic mutation carriers, and 2 for elevated catecholamines. Median time between modalities was 1.5 months. GaTate PET/CT had higher sensitivity and specificity than conventional imaging. On a per-patient basis: PET/CT sensitivity 100%, specificity 100%; MRI/CT 85% and 50%. Per-lesion basis: PET/CT sensitivity 100%, specificity 75%; MRI/CT 80% and 25%. PET/CT correctly identified additional small nodal and osseous lesions. MRI/CT had more false-positive findings. Change of management resulted in 40% (8/20 patients): 3 received localized treatment instead of observation, 1 changed to observation given extra disease detected, 4 with metastases had radionuclide therapy. Conclusions: GaTate PET/CT provided incremental diagnostic information with consequent management impact in SDHx-pheochromocytoma and paraganglioma. Incorporating this modality as part of a surveillance program seems prudent. Further research is needed to define the optimal surveillance strategy including use of MRI.
-
ItemNo Preview AvailableDecrease in serum potassium levels post saline suppression test in primary aldosteronism: an under-recognised phenomenon?(NATURE PUBLISHING GROUP, 2016-11)Seventeen subjects with confirmed primary aldosteronism and stable serum potassium (K) levels ≥ 3.5 mmol l-1 underwent saline suppression testing. They were retrospectively evaluated for changes in serum K levels post test. We found that there was a significant decrease in serum K levels post saline suppression test (3.7 ± 0.05 vs 3.5 ± 0.08, P = 0.01). This effect of saline suppression testing on serum K levels is not well described. We conclude that a decrease in serum K is common post-saline suppression test, even in subjects who are normokalemic pretest. The factors which predispose to the decrease in serum K level post saline load remain unclear.
-
ItemNo Preview AvailableDilemmas in metastatic differentiated thyroid cancer: To irradiate, medicate, or palliate?(Jaypee Brothers Medical Publishing, 2016-05-01)Aims: To explore the challenges in the management of metastatic differentiated thyroid cancer. Introduction: Differentiated thyroid cancer (DTC) is the most common form of thyroid cancer. The initial diagnosis of thyroid carcinoma and the distinction between benign and neoplastic disease can be challenging. Radioiodine-refractory metastatic DTC also presents a therapeutic dilemma. Novel targeted agents for advanced radioiodine-refractory metastatic thyroid cancer, such as tyrosine kinase inhibitors (TKIs), are being increasingly used with clinical success, broadening current available therapeutic options. Case report: We present the case of a 61-year-old woman with radioiodine-refractory metastatic follicular thyroid carcinoma, which was initially misdiagnosed as benign Hurthle cell adenoma. We focus on the challenges in both the initial diagnosis and the subsequent management of her advanced disease with skeletal dominant metastases. Conclusion: The advent of targeted systemic therapies as emerging frontline and salvage therapy is a novel addition to the management of radioiodine-refractory advanced DTC. Further studies to expand the role of sequential and redifferentiation therapy for advanced disease and strategies to reduce skeletalrelated events are still required.
-
ItemNo Preview AvailableHyponatraemia and hypopituitarism: an easily missed entity(AUSTRALASIAN MED PUBL CO LTD, 2017-10-02)
-
ItemNo Preview AvailableNeuropredictors of oromotor feeding impairment in 12 month old children (vol 128, pg 49, 2017)(ELSEVIER IRELAND LTD, 2019-01)The publisher regrets that the abstract is incomplete in the published manuscript. Please find below the complete abstract., 1, Background, Feeding impairment is prevalent in children with neurodevelopmental issues. Neuroimaging and neurobehavioral outcomes at term are predictive of later neuromotor impairment, but it is unknown whether they predict feeding impairment., 2, Aims, To determine whether neurobehavior and brain magnetic resonance imaging (MRI) at term predict oromotor feeding at 12 months in preterm and term-born children., 3, Study design, Prospective cohort study., 4, Subjects, 248 infants (97 born <30 weeks and 151 born at term) recruited at birth., 5, Outcome measures, Neurobehavioral assessments (General Movements (GMA), Hammersmith Neonatal Neurological Examination (HNNE), Neonatal Intensive Care Unit Network Neurobehavioral Scale (NNNS)); and brain MRI were administered at term-equivalent age. Oromotor feeding was assessed at 12 months corrected age using the Schedule for Oral Motor Assessment., 6, Results, 49/227 children had oromotor feeding impairment. Neurobehavior associated with later feeding impairment was: suboptimal NNNS stress (odds ratio [OR] 2.68; 95% confidence interval [CI] 1.20–6.01), non-optimal reflexes (OR 3.33; 95% CI 1.37–8.11) and arousal scales (OR 2.54; 95% CI 1.03–6.27); suboptimal HNNE total (OR 4.69; 95% CI 2.20–10.00), reflexes (OR 2.62; 95% CI 1.06–6.49), and tone scores (OR 3.87; 95% CI 1.45–10.35); and abnormal GMA (OR 2.60; 95% CI 1.21–5.57). Smaller biparietal diameter also predicted feeding impairment (OR 0.88; 95% CI 0.79–0.97). There was little evidence that relationships differed between birth groups., 7, Conclusions, Neurobehavior and biparietal diameter at term are associated with oromotor feeding at 12 months. These results may identify children at greatest risk of oromotor feeding impairment. The publisher would like to apologise for any inconvenience caused.
-
ItemIs there an inherent conflict in managing fire for people and conservation?(CSIRO PUBLISHING, 2017)Wildfires are a natural disturbance in many ecosystems, creating challenges for land management agencies who need to simultaneously reduce risk to people and maintain ecological values. Here we use the PHOENIX RapidFire fire behaviour simulator to compare fuel treatment strategies that meet the twin objectives of reducing wildfire risk to human settlements and a fire sensitive endangered species, the koala (Phascolarctos cinereus) in south-eastern Australia. The local koala population is in decline and a conservation management plan is being prepared to exclude wildfire for a 10-year period to assist with population recovery. Twelve scenarios developed by the land management agencies were compared using four indicators: wildfire size; burn probability; impact from exposure to fire; and treatment cost. Compared with the current risk setting, three treatment scenarios were found to reduce wildfire size and burn probability concurrently to both people and koalas. These strategies worked by increasing the landscape area treated, which came with increased financial cost. However, the impact from exposure to fire for both property and koala habitat remains high. Additional complementary strategies beyond landscape fuel reductions are needed to reduce impact from exposure in the event of a wildfire.
-
ItemAntiepileptic Medications Increase Osteoporosis Risk in Male Fabry Patients: Bone Mineral Density in an Australian Cohort(SPRINGER-VERLAG BERLIN, 2014)BACKGROUND: Fabry disease (FD) is an inherited X-linked lysosomal storage disease with widespread clinical manifestations. Small prospective studies have shown increased osteopenia and osteoporosis in male FD patients. Limited information however exists about bone metabolism and osteoporosis risk factors within this group. We reviewed osteoporosis risk factors within our cohort. METHODS: A retrospective analysis of bone mineral density (BMD) results and fracture incidence in 44 patients (22 males and 22 females) was undertaken. Dual X-ray absorptiometry scans were performed at the lumbar spine, hip and femoral neck. The impact of risk factors including renal function, antiepileptic drug (AED), analgesia and vitamin D levels were assessed. RESULTS: Male FD patients had low T scores at all sites (spine -1.2 ± 1.06, hip -1.6 ± 0.9, femoral neck -2.23 ± 1.01). Female T scores showed more typical distribution (spine -0.07 ± 1.47, hip 0.02 ± 1.14, femoral neck -0.49 ± 1.31). A higher incidence of osteopenia and/or osteoporosis occurred in males versus females (spine 46.9% versus 31.8%, hip 75.5% versus 18.2% and femoral neck 86.4% versus 45.5%). Multiple regression analysis showed a 50.8% (p < 0.001) reduction in femoral neck BMD with AED usage, after adjustment for age, gender and renal function. Non-traumatic fractures occurred in 27.3% males over 205 patient-years versus 4.6% in females over 149 patient-years, p = 0.095. CONCLUSIONS: Low bone density was highly prevalent in male patients with increased incidence of non-traumatic fractures. AED usage significantly reduces BMD. Treatment to prevent BMD deterioration will depend on determining the bone turnover status.
-
ItemImprovement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry(SPRINGER-VERLAG BERLIN, 2018)Fabry disease, an X-linked inherited lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase, GLA. In patients with Fabry disease, glycosphingolipids accumulate in various cell types, triggering a range of cellular and tissue responses that result in a wide spectrum of organ involvement. Although variable, gastrointestinal symptoms are among the most common and significant early clinical manifestations; they tend to persist into adulthood if left untreated. To further understand the effects of sustained enzyme replacement therapy (ERT) with agalsidase beta on gastrointestinal symptoms in heterozygotes, a data analysis of female patients enrolled in the Fabry Registry was conducted. To be included, females of any age must have received agalsidase beta (average dose 1.0 mg/kg every 2 weeks) for at least 2.5 years. Measured outcomes were self-reported gastrointestinal symptoms (abdominal pain, diarrhea). Outcomes at baseline and last follow-up, and their change from baseline to last follow-up, were assessed. Relevant data were available for 168 female patients. Mean age at the start of ERT was 43 years and mean treatment duration 5.7 years. Baseline pre-treatment abdominal pain was reported by 45% of females and diarrhea by 39%. At last follow-up, 31% reported abdominal pain (p < 0.01) and 27% diarrhea (p < 0.01). The results of this Fabry Registry analysis suggest that while on sustained treatment with agalsidase beta (1.0 mg/kg every 2 weeks), both abdominal pain and diarrhea improved in many female patients with Fabry disease.
-
ItemSleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease(SPRINGER-VERLAG BERLIN, 2017)OBJECTIVES: To assess the prevalence of sleep disorder(s) in males with Fabry disease and explore possible association with disease phenotype. BACKGROUND: Fabry disease, an X-linked lysosomal storage disease caused by deficiency in α-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructive lung disease, reduced diffusing capacity and thickened soft and hard palates. Patients commonly develop small-fibre sensory peripheral neuropathy manifested by acroparaesthesia and pain crises. Combined with self-reported sleep disturbance and snoring, these features suggest an increased risk of sleep disorders. METHODS: In-laboratory polysomnography (PSG) studies and sleep inventory assessments, including Epworth Sleepiness Scale (ESS), were performed in a cohort of male Fabry patients. PSGs were reviewed by a sleep physician. Sleep-disordered breathing and periodic leg movements were targeted for analysis. Associations with renal, cardiovascular and cerebrovascular function were sought. RESULTS: Twenty males underwent overnight PSG. Patient baseline characteristics included age 43.9 ± 10.7 years, BMI 24.3 ± 3.8 kg/m2, neck circumference 39.7 ± 3.3 cm and ESS 9.8 ± 5.1 (7/20, abnormal ESS >10). Abnormal periodic leg movement index (PLMI) was present in 95% (mean frequency 42.4 ± 28.5/min) and sleep-disordered breathing in 50% patients. Periodic leg movements were associated with pain and depression but not with increased cortical arousal. CONCLUSIONS: Sleep-disordered breathing and abnormal PLMI are highly prevalent in patients with FD. The presence of abnormal PLMI alone appears to have minimal impact on sleep disturbance, but is associated with depression and analgesic requirement.