[Diagnostic criteria: OCT angiography for retinal angiomatous proliferation (RAP lesions, type 3 neovascularization)].

Background: Multimodal imaging of retinal angiomatous proliferation (RAP) lesions (type 3 neovascularization) and the diagnostic significance of optical coherence tomography angiography (OCT-A).

Material And Methods: Confirmation of the diagnosis in six case reports with fundus photography, optical coherence tomography (OCT), fluorescein angiography (FLA), indocyanine green angiography (ICGA) and optical coherence tomography angiography (OCT‑A).

Results And Conclusion: The use of OCT‑A is helpful for the diagnosis and follow-up examinations of RAP lesions (type 3 neovascularization).

[Multimodal imaging in Goldmann-Favre syndrome].

Case report of a 23-year-old male patient suffering from Goldmann-Favre syndrome. The patient reported bilateral visual loss since 10 years of age and difficulties with dark adaptation for 2 years. Until recently a final diagnosis was not found.

Arthroscopic Stabilization of Chronic Acromioclavicular Joint Dislocations: Triple- Versus Single-Bundle Reconstruction.

Background: Arthroscopically assisted single-bundle (SB) or double-bundle coracoclavicular (CC) ligament reconstruction using autologous tendon grafts has been reported to provide acromioclavicular (AC) joint (ACJ) stability in chronic instability cases. Recently, additional AC ligament reconstruction to provide triple-bundle (TB) stabilization has been introduced but lacks a comparison of clinical and radiological outcomes.

Hypothesis: Arthroscopically assisted anatomic TB CC and AC reconstruction yields superior clinical and radiological results when compared with nonanatomic SB CC reconstruction.

Rural general physicians: improving access and reducing costs of health care in the bush.

Objective: To assess the effectiveness of the introduction of a trainee specialist physician into the workforce mix of a rural hospital in the Northern Territory.

Methods: A retrospective review comparing clinical and non-clinical outcomes during two corresponding 6-month periods in 2011 and 2012, before and after a FRACP Trainee in General and Acute Care Medicine commenced employment in the hospital.

Results: There was a significant reduction of 18% in total length of stay of admitted adult patients, with a 23% reduction of inter-hospital transfers and a 43% reduction of total aeromedical evacuations after the introduction of the trainee specialist.

Tuberous sclerosis presenting in late adult life.

A 59 year old woman presented with a three year history of left sided weakness. Magnetic resonance imaging of the brain showed a large high signal lesion occupying most of the right temporal lobe with mass effect. A probable diagnosis of low grade glioma led to temporal lobectomy.

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome associated with a characteristic pattern of visceromegaly and predisposition to childhood tumours. BWS is a genetically heterogeneous disorder; most cases are sporadic but approximately 15% are familial and a small number of BWS patients have cytogenetic abnormalities involving chromosome 11p15. Genomic imprinting effects have been implicated in familial and non-familial BWS.

The spectrum of beta thalassaemia mutations in the UAE national population.

The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes originating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polymerase chain reaction (PCR). The IVSI-5 (G-->C) mutation was found to be present in 66%, while six other alleles occurred at the much lower frequencies of 2% to 8%. These were codon 8/9 (+G), IVSI-1, 3' end (-25 bp), codon 5 (-CT), IVSII-1 (G-->A), codon 30 (G-->C), and codon 15 (G-->A).

Effect of alpha thalassaemia trait and enhanced gamma chain production on disease severity in beta thalassaemia major and intermedia.

One hundred and twenty patients with homozygous beta thalassaemia were selected to determine the clinical effects of certain genetic factors which may modify disease severity. Genetic analysis defined specific beta thalassaemia mutations, the alpha thalassaemia genotype, and the presence of an XmnI restriction enzyme site, associated with increased fetal haemoglobin (HbF) production under certain conditions. Genotypic data with globin chain synthesis were related to the age when regular transfusions began and subsequent pubertal development.