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Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of cortical development, with distinct genotype–phenotype correlations. Here, we report fourteen individuals from thirteen unrelated families, each of whom harbors the identical NM_006086.4 (TUBB3):c.785G>A (p.Arg262His) variant resulting in a phenotype we refer to as the TUBB3 R262H syndrome. The affected individuals present at birth with ptosis, ophthalmoplegia, exotropia, facial weakness, facial dysmorphisms, and, in most cases, distal congenital joint contractures, and subsequently develop intellectual disabilities, gait disorders with proximal joint contractures, Kallmann syndrome (hypogonadotropic hypogonadism and anosmia), and a progressive peripheral neuropathy during the first decade of life. Subsets may also have vocal cord paralysis, auditory dysfunction, cyclic vomiting, and/or tachycardia at rest. All fourteen subjects share a recognizable set of brain malformations, including hypoplasia of the corpus callosum and anterior commissure, basal ganglia malformations, absent olfactory bulbs and sulci, and subtle cerebellar malformations. While similar, individuals with the TUBB3 R262H syndrome can be distinguished from individuals with the TUBB3 E410K syndrome by the presence of congenital and acquired joint contractures, an earlier onset peripheral neuropathy, impaired gait, and basal ganglia malformations.

A 10-year-old girl with acute-onset hemichorea had multiple areas of abnormal signal seen on magnetic resonance imaging of the brain, associated with middle and anterior cerebral artery vasculitis seen on cerebral angiography. Her serology and clinical course were supportive of the diagnosis of Sydenham's chorea. Other causes of cerebral vasculitis were excluded. Follow-up studies revealed resolution of changes seen on magnetic resonance imaging and partial resolution of angiographic abnormalities. This is the first report of abnormal cerebral angiography in Sydenham's chorea. (J Child Neurol 1999; 14:815-818).

Experimental allergic neuritis was induced in 30 rabbits with extract of bovine peripheral nerve in complete Freund's adjuvant. Of the 22 animals that completed the study, nine animals were plasmapheresed within two weeks of inoculation and 13 animals served as controls. The plasmapheresed animals developed a less severe form of EAN than the controls. Differences were apparent in clinical weakness, weight loss, degree of dispersion of the muscle action potential and histological changes.

Effective agricultural and food security policies in Africa need to be based on a solid empirical foundation. In Zambia, it is widely perceived that poverty rates are increasing, agricultural growth is stagnant, and real food prices are higher as food production declines. This study examines these trends and finds that all of these perceptions are wrong. Rural poverty rates have declined substantially in rural Zambia since the early 1990s, although they are still unacceptably high. Real staple food prices for consumers have declined by 20% over the past decade, thanks to major reductions in maize milling and retailing margins. And there is evidence of impressive production growth for some crops that are becoming increasingly important sources of income and food security for Zambian farmers, despite evidence of stagnant production for other key crops. This paper examines the relationship between trends in agricultural sector performance and rural poverty in Zambia, the likely factors driving these trends, and the future implications for agricultural policy and investment rate