Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen for Pompe disease, but a paradigm shift has been observed in recent years with the incorporation of gene panels and exome sequencing in molecular diagnostic laboratories. An 89-gene panel has been available to Canadian physicians since 2017 and was analyzed in 2030 patients with a suspected muscle disease. Acid alpha-glucosidase activity was measured in parallel in dried blood spots from 1430 patients.

Low prevalence of bilateral (presumed nutritional) optic neuropathy as a cause of blindness in the Gambia.

Objective: Previous reports of epidemics of optic neuropathy in Africa have mainly focused on eastern and central areas. Our study aimed to measure the prevalence of optic neuropathy in The Gambia, a West African country, and compare this prevalence with a simultaneously occurring epidemic of optic neuropathy, now considered endemic, in Tanzania.

Methods: The sample population, derived from the Gambian National Blindness Survey (1996), was selected using simple random sampling.

Low folate status and indoor pollution are risk factors for endemic optic neuropathy in Tanzania.

Aims: Bilateral optic neuropathy in Dar-es-Salaam, Tanzania was first reported as an epidemic in 1988. Now argued to be endemic in 2010, the aetiology remains unclear. The authors investigated the hypothesis that low folate and vitamin B₁₂ status are associated with optic neuropathy, and also sought to investigate whether mercury, commonly used drugs, dietary factors and indoor pollution may also be risk factors.

Epidemic optic neuropathy is evident in the Somalian population.

Background: Optic neuropathy epidemics have proven to be a serious public health problem around the world. Recently, documented outbreaks have occurred in Cuba and Tanzania, with almost identical clinical presentation. Investigations of both epidemics have implicated nutritional deficiencies as part of a multifactorial etiology, and thus, it is proposed that there may be many undetected epidemics in other food-deprived nations.

Confirming statements about pictures of natural scenes: evidence of the processing of gist from eye movements.

Combined displays of graphics and text, such as figure captions in newspapers and books, lead to distinctive inspection patterns, or scanpaths. Readers characteristically look very briefly at the picture, and then read the caption, and then look again at the picture. The initial inspection of the picture is the focus of interest in the present experiment, in which we attempted to modify the inspection by giving participants advance knowledge of the subject of a sentence (the cued object) that was to be verified or denied on the basis of whether it correctly described some aspect of the scene shown in the picture.