A novel variant of the AGPAT2 mutation in generalized congenital lipodystrophy
We present a case of 24 year old lady with young onset diabetes mellitus, acromegaloid features, virilisation, hepatomegaly, hypertriglyceridemia with almost complete absence of subcutaneous and visceral adipose tissue as assessed by DXA scan body composition and MRI abdomen. Based on the clinical presentation, a diagnosis of Berardinelli–Seip generalized lipodystrophy was considered. Genetic analysis using next generation sequencing identified a novel homozygous insertion mutation in 1-acylglycerol-3-phosphate O-acyltransferase 2(AGPAT2) gene which was further confirmed with Sanger sequencing. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - June 28, 2016 Category: Journals (General) Source Type: research
Acute myeloid leukaemia presenting as bilateral proptosis in a young child
Conclusion Our case highlights the importance of haemogram and peripheral blood smear in the initial evaluation of proptosis. Correct diagnosis of this rare entity is vital especially in cases where (myeloid sarcoma) MS is the presenting feature of AML. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - June 28, 2016 Category: Journals (General) Source Type: research
Do interpersonal problems catalyse experimentation of substance use among adolescents?
Conclusion Cordial environment at home especially with parents, age, sex (male), residing town/neighbourhood were found to be very significant predictors of substance use by adolescents. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - June 28, 2016 Category: Journals (General) Source Type: research
Clinical profile of high-risk febrile neutropenia in a tertiary care hospital
Conclusion Febrile neutropenia is one of the major complications and cause of mortality in patients with malignancy and hence understanding its entire spectrum can help us reduce morbidity and mortality. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - June 28, 2016 Category: Journals (General) Source Type: research
Compassion and self-compassion in medicine
(Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - June 2, 2016 Category: Journals (General) Source Type: research
Snake bite: An unusual cause of ischaemic stroke
Snake bite continues to be one of the major and potential contributors for morbidity and mortality in India. Intracranial haemorrhage causing neurological deficits is a known entity due to snake bite but presentation with infarction is rare. The authors report a case of a healthy middle aged female who presented within hours of envenomation with altered sensorium and evaluation revealed left hemiplegia with deranged coagulation profile and multiple ischaemic infarcts instead of haemorrhage as a consequence of vasculotoxic envenomation due to viper bite. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Development of a Novel Steerable Bougie
Conclusion Users have defined a need for a new steerable bougie for endotracheal intubation. Controlling smart materials and mechanisms within the predefined dimensions identified strengths and weaknesses associated with steerable functions. The performance of the selected mechanism for incorporation in the steerable bougie requires a high level of control to accurately steer a device within the human airway. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Coronary CT angiography in coronary artery disease
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Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Perceptions of thalassemia and its treatment
Conclusion This study provides basic information about thalassaemia patients’ perceptions towards Thalassemia and its treatment. The findings can help in the design of educational programs to enhance awareness and acceptance of Thalassaemia screening at an earlier stage. Priorities for future research should focus on who refused the conventional therapies. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Time trend and predictors of lab positivity among suspected cases in the post pandemic phase of H1N1
Conclusion Lab positivity was seen among 9.5% of cases and the independent predictors were severe cases, adult patients, positive history of contact and travel. The number needed to screen to get one lab positive H1N1 case is 35 suspected cases. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Use of contraception among college students
Conclusion There is a need to impart reproductive health knowledge during the adolescent period so that young people can make informed decisions when it comes to reproductive health matters. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 31, 2016 Category: Journals (General) Source Type: research
Improving quality in Australian Health Care
(Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 3, 2016 Category: Journals (General) Source Type: research
Letter to the Editor
(Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - May 2, 2016 Category: Journals (General) Source Type: research
Childhood hospitalisation for otitis media
Conclusion These data depict the variations in prevalence of otitis media hospitalisations within the community, as affected by various risk indicators. (Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - April 8, 2016 Category: Journals (General) Source Type: research
Treating haemophagocytic lymphohistiocytosis
(Source: Australasian Medical Journal - AMJ)
Source: Australasian Medical Journal - AMJ - April 4, 2016 Category: Journals (General) Source Type: research
