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Ciliopathies may be classed as primary or motile depending on the underlying ciliary defect and are usually considered distinct clinical entities. Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and eye, as well as other organ systems such as the liver, skeleton, auditory system, and metabolism. Motile ciliopathies are a heterogenous group of disorders with defects in specialised motile ciliated tissues found within the lung, brain, and reproductive system, and are associated with primary ciliary dyskinesia, bronchiectasis, infertility and rarely hydrocephalus. Primary and motile cilia share defined core ultra‐structures with an overlapping proteome, and human disease phenotypes can reflect both primary and motile ciliopathies. CEP164 encodes a centrosomal distal appendage protein vital for primary ciliogenesis. Human CEP164 mutations are typically described in patients with nephronophthisis‐related primary ciliopathies but have also been implicated in motile ciliary dysfunction. Here we describe a patient with an atypical motile ciliopathy phenotype and biallelic CEP164 variants. This work provides further evidence that CEP164 mutations can contribute to both primary and motile ciliopathy syndromes, supporting their functional and clinical overlap, and informs the investigation and management of CEP164 ciliopathy patients. [ABSTRACT FROM AUTHOR]

Background: It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late or missed, often due to the lack of a "gold standard" diagnostic tool and non-specific symptoms. Mutations in > 50 genes account for around 70% of cases, with additional genes, and non-coding, synonymous, missense changes or structural variants (SVs) in known genes presumed to account for the missing heritability. Methods: UK patients with no identified genetic confirmation for the cause of their PCD or bronchiectasis were eligible for whole genome sequencing (WGS) in the Genomics England Ltd 100,000 Genomes Project. 21 PCD probands and 52 non-cystic fibrosis (CF) bronchiectasis probands were recruited in Wessex Genome Medicine Centre (GMC). We carried out analysis of single nucleotide variants (SNVs) and SVs in all families recruited in Wessex GMC. Results: 16/21 probands in the PCD cohort received confirmed (n = 9), probable (n = 4) or possible (n = 3) diagnosis from WGS, although 13/16 of these could have been picked up by current standard of care gene panel testing. In the other cases, SVs were identified which were missed by panel testing. We identified variants in novel PCD candidate genes (IFT140 and PLK4) in 2 probands in the PCD cohort. 3/52 probands in the non-CF bronchiectasis cohort received a confirmed (n = 2) or possible (n = 1) diagnosis of PCD. We identified variants in novel PCD candidate genes (CFAP53 and CEP164) in 2 further probands in the non-CF bronchiectasis cohort. Conclusions: Genetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants. In these cases it may detect SVs and is a powerful tool for novel gene discovery. [ABSTRACT FROM AUTHOR]

Abstract Background Type 2 Diabetes Mellitus is one of the most disabling chronic conditions worldwide, resulting in significant human, social and economic costs and placing huge demands on health care systems. The Inala Chronic Disease Management Service aims to improve the efficiency and effectiveness of care for patients with type 2 diabetes who have been referred by their general practitioner to a specialist diabetes outpatient clinic. Care is provided by a multidisciplinary, integrated team consisting of an endocrinologist, diabetes nurse educators, General Practitioner Clinical Fellows (general practitioners who have undertaken focussed post-graduate training in complex diabetes care), and allied health personnel (a dietitian, podiatrist and psychologist). Methods/Design Using a geographical control, this evaluation study tests the impact of this model of diabetes care provided by the service on patient outcomes compared to usual care provided at the specialist diabetes outpatient clinic. Data collection at baseline, 6 and 12-months will compare the primary outcome (glycaemic control) and secondary outcomes (serum lipid profile, blood pressure, physical activity, smoking status, quality of life, diabetes self-efficacy and cost-effectiveness). Discussion This model of diabetes care combines the patient focus and holistic care valued by the primary care sector with the specialised knowledge and skills of hospital diabetes care. Our study will provide empirical evidence about the clinical effectiveness of this model of care. Trial registration Australian New Zealand Clinical Trials Registry ACTRN12608000010392.

Abstract Background Primary care internationally is approaching a new paradigm. The change agenda implicit in this threatens to de-stabilise and challenge established general practice and primary care. Discussion The Primary Care Amplification Model offers a means to harness the change agenda by 'amplifying' the strengths of established general practices around a 'beacon' practice. Conclusion Such 'beacon' practices can provide a mustering point for an expanded scope of practice for primary care, integrated primary/secondary service delivery, interprofessional learning, relevant local clinical research, and a focus on local service innovation, enhancing rather than fragmenting the collective capacity of existing primary care.

Abstract Background Diabetes has been identified as one of the national health priority areas in Australia. After 20 years of diabetes most patients can be expected to develop diabetic retinopathy which, if undetected, is likely to cause significant visual loss or blindness. This paper reports on a pilot study aimed to test the ability of Australian GPs to clinically recognise diabetic retinopathy following a brief training intervention. Method 17 GPs from a Brisbane Division of General Practice were recruited to participate in a clinical upskilling intervention pilot. Participant scores on clinical assessments were used to analyse GP sensitivity and specificity in screening for diabetic retinopathy. Results were compared with the NHMRC guidelines for acceptable screening accuracy. Results Ten of the 17 GPs (59%) achieved a screening sensitivity of 25% or less in the pre test, three (18%) a sensitivity of 50%, and four (23%) achieved a sensitivity of ≥ 75%. In the post-test, all seventeen GPs achieved between 50 and 100% sensitivity. In the pre-test, thirteen (76%) GPs achieved a screening specificity of less than or equal to 50%, and four (23%) a specificity of 75 %. In the post test, four GPs (23%) rated a screening specificity of less than 50%, six (35%) achieved a specificity of 66%, and seven (41%) 100% specificity. Conclusion 24% of GPs met the NHMRC diabetic retinopathy screening criterion prior to the workshop, and 94% following this brief training intervention. Australian GPs are capable of a much more significant role in community screening for diabetic retinopathy.