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Leber hereditary optic neuropathy (LHON) is a rare but bilaterally blinding disease. Three characteristic disease-causing point mutations, and other less common mutations, are most often found on the mitochondrially encoded genes of NADH-ubiquinone oxidoreductase core subunits (MT-ND). The purpose of this study is to provide an overview of LHON mutations in Southwestern Ontario and to describe the associated demographic and clinical characteristics.
A retrospective genetic and clinical chart review was performed from January 2015 to 2020. Patients were identified within a mitochondrial mutation database and included if a mutation was detected on the MT-ND1, -ND4, or -ND6 genes. A clinical chart review was done on all available patients.
Forty-five of 63 patients identified had classic disease-causing mutations (6.7% m.3460G>A, 44.4% m.11778G>A, and 48.9% m.14484T>C). Several of the remaining 18 patients had rare mutations previously documented in association with LHON. Of the 14 patients with clinical charts accessible for review, 12 had symptomatic disease, and all but one had bilateral optic neuropathies. Nine patients had classic LHON mutations and 3 had possible novel mutations; 7 were males; 9 had final visual acuity ≤ 20/200 in at least one eye; and 6 of those had ≤20/400 in both eyes.
This study adds to the literature on LHON in Canada, and specifically Southwestern Ontario. The demographic and clinical data regarding LHON in this geographic location, as well as possible novel disease-causing mutations, provide important information to aid clinicians in recognizing cases of LHON that may otherwise be disregarded.
Illegal killing/taking of birds is a growing concern across the Mediterranean. However, there are few quantitative data on the species and countries involved. We assessed numbers of individual birds of each species killed/taken illegally in each Mediterranean country per year, using a diverse range of data sources and incorporating expert knowledge. We estimated that 11–36 million individuals per year may be killed/taken illegally in the region, many of them on migration. In each of Cyprus, Egypt, Italy, Lebanon and Syria, more than two million birds may be killed/taken on average each year. For species such as Blackcap Sylvia atricapilla, Common Quail Coturnix coturnix, Eurasian Chaffinch Fringilla coelebs, House Sparrow Passer domesticus and Song Thrush Turdus philomelos, more than one million individuals of each species are estimated to be killed/taken illegally on average every year. Several species of global conservation concern are also reported to be killed/taken illegally in substantial numbers: Eurasian Curlew Numenius arquata, Ferruginous Duck Aythya nyroca and Rock Partridge Alectoris graeca. Birds in the Mediterranean are illegally killed/taken primarily for food, sport and for use as cage-birds or decoys. At the 20 worst locations with the highest reported numbers, 7.9 million individuals may be illegally killed/taken per year, representing 34% of the mean estimated annual regional total number of birds illegally killed/taken for all species combined. Our study highlighted the paucity of data on illegal killing/taking of birds. Monitoring schemes which use systematic sampling protocols are needed to generate increasingly robust data on trends in illegal killing/taking over time and help stakeholders prioritise conservation actions to address this international conservation problem. Large numbers of birds are also hunted legally in the region, but specific totals are generally unavailable. Such data, in combination with improved estimates for illegal killing/taking, are needed for robustly assessing the sustainability of exploitation of birds.
Current cognitive models propose that multiple processes are involved in reading and writing.
Our goal was to use linguistic analyses to clarify the cognitive dysfunction behind two classic alexic syndromes.
We report four experiments on two patients, one with alexia without agraphia following occipitotemporal lesions, and one with alexia with agraphia from a left angular gyral lesion.
The patient with occipital lesions had trouble discriminating real letters from foils and his reading varied with word-length but not with linguistic variables such as part of speech, word frequency or imageability. He read pseudo-words and words with regular spelling better, indicating preserved use of grapheme-to-phoneme pronunciation rules. His writing showed errors that reflected reliance on ‘phoneme-to-grapheme’ spelling rules. In contrast, the patient with a left angular gyral lesion showed better recognition of letters, words and their meanings. His reading was better for words with high imageability but displayed semantic errors and an inability to use ‘grapheme-to-phoneme’ rules, features consistent with deep dyslexia. His agraphia showed impaired access to both an internal lexicon and ‘phoneme-to-grapheme’ rules.
Some cases of pure alexia may be a perceptual word-form agnosia, with loss of internal representations of letters and words, while the angular gyral syndrome of alexia with agraphia is a linguistic deep dyslexia. The presence or absence of agraphia does not always distinguish between the two; rather, writing can mirror the reading deficits, being more obvious and profound in the case of an angular gyral syndrome.