Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

The OPA1 gene, encoding a dynamin-related GTPase that plays a role in mitochondrial biogenesis, is implicated in most cases of autosomal dominant optic atrophy (ADOA). Sixty-nine pathogenic OPA1 mutations have been reported so far. Most of these are truncating mutations located in the GTPase domain coding region (exons 8-16) and at the 3'-end (exons 27-28). We screened 44 patients with typical ADOA using PCR-sequencing. We also tested 20 sporadic cases of bilateral optic atrophy compatible with ADOA. Of the 18 OPA1 mutations found, 14 have never been previously reported. The novel mutations include one nonsense mutation, 3 missense mutations, 6 deletions, one insertion and 3 exon-skipping mutations. Two of these are de novo mutations, which were found in 2 patients with sporadic optic atrophy. The recurrent c.2708_2711delTTAG mutation was found in 2 patients with a severe congenital presentation of the disease. These results suggest that screening for OPA1 gene mutations may be useful for patients with optic atrophy who have no affected relatives, or when the presentation of the disease is atypical as in the case of early onset optic atrophy.     

Effects of high- vs low-dose native vitamin D on albuminuria and the renin–angiotensin–aldosterone system: a randomized pilot study

International Urology and Nephrology - Residual albuminuria is associated with an increased risk of progression to ESKD. We tested whether a supplementation with native vitamin D could reduce...     

Pleomorphic lipoma of the tongue: case report and literature review

A case of pleomorphic lipoma of the tongue in a 60-year-old woman is reported. Recently described by Enzinger (1977), pleomorphic lipoma is a rare benign tumor, occurring mostly in elderly males. The subcutaneous tissues of the neck and back are the most common sites involved. Differentiation from some histological variants of liposarcoma remains difficult. Complete surgical excision is the treatment of choice. To our knowledge, this is the first case of pleomorphic lipoma of the tongue reported in the English literature.     

An atypical case of malignant hypertensive retinopathy in a young child

Stage IV hypertensive retinopathies in children have been described, but their incidence appears to be rare. Most etiologies are nephropathies. The authors present a clinical case of malignant high blood pressure in a young girl whose ophthalmological tests detected an unusual nephropathy, the Ask-Upmark kidney, illustrating the importance of determining high blood pressure chronicity and using Kirkendall's classification. Systematic fluorescein angiography and NMR on atypical subjects prevents the diagnosis of Leber neuroretinis, the main differential diagnosis. Early treatment of high blood pressure can avoid complications such as macular exudes.     

Varying conceptions of competence: an analysis of how health sciences educators define competence

Medical Education 2012: 46 : 357–365 Context Current debate in medical education focuses on the nature of ‘competency‐based medical education’ (CBME) and whether or not it should be adopted. Many medical schools claim to run ‘competency‐based’ curricula, but the structure of their programmes can differ radically. A review of the existing CBME literature reveals that little attention has been paid to defining the concept of competence. A straightforward examination of what is meant by the term ‘competence’ is noticeably missing from the literature, despite its impact on medical training. Objectives This paper aims to illustrate the varying conceptions of ‘competence’ by comparing and contrasting definitions provided in the health sciences education literature and discussing their respective impacts on medical education. Methods A systematic review of recent publications in medical education journals published in English and French was conducted to extract definitions of competence or, if definitions were not explicitly stated, to derive the authors’ implicit conception of competence. A sample of 14 definitions from articles in the health sciences education field was studied using thematic analysis. Results There is agreement that competence is composed of knowledge, skills and other components. Although agreement about the nature of these other components is lacking, attitudes and values are suggested to be essential ingredients of competence. Furthermore, a clear divergence in conceptions of how a competent person utilises these components is apparent. One view specifies that competence involves selecting components according to specific situations, as required. A second view places greater emphasis on the synergy that results from the use of a combination of components in a given situation. Conclusions These conceptual distinctions have many implications for the way CBME is implemented. A conception of competence as the selection of components may lead to a greater emphasis, in a training setting, on the mastery of each component separately. A conception of competence as the use of a combination of components leads to greater emphasis on the synergy that results as they are deployed in clinical situations.