Smallholder Farmers in Rural Uganda

Gunning, J.W. [Promotor]Elbers, C.T.M. [Copromotor

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy.

We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON). The patient's family history was significant for a known G11778A mutation in a maternal relative, consistent with LHON. The patient was also positive for the G11778A mutation; however, the genotype demonstrated low penetrance in the pedigree, with only 1 out of 10 adult male offspring showing signs or symptoms of the disease. Mitochondrial mutations implicated in LHON have been shown to impair complex I of the electron transport chain and thereby reducing the effective generation of adenosine triphosphate and increasing the production of toxic reactive oxygen species. Although the partial or complete triplicate of chromosome 21 constitutes the etiology of DS, some of the pleiotropic phenotypes of the syndrome have been attributed to oxidative stress and mitochondrial dysfunction. Given the low penetrance of the mutation and the patient's sex, this case illustrates the possibility that the mitochondrial mutation demonstrated increased penetrance due to pre-existing mitochondrial dysfunction related to DS

Food priorities and poverty in Uganda

food consumption; poverty; farmers; research methods; Uganda;

Origins of vocal-entangled gesture

Gestures during speaking are typically understood in a representational framework: they represent absent or distal states of affairs by means of pointing, resemblance, or symbolic replacement. However, humans also gesture along with the rhythm of speaking, which is amenable to a non-representational perspective. Such a perspective centers on the phenomenon of vocal-entangled gestures and builds on evidence showing that when an upper limb with a certain mass decelerates/accelerates sufficiently, it yields impulses on the body that cascade in various ways into the respiratory–vocal system. It entails a physical entanglement between body motions, respiration, and vocal activities. It is shown that vocal-entangled gestures are realized in infant vocal–motor babbling before any representational use of gesture develops. Similarly, an overview is given of vocal-entangled processes in non-human animals. They can frequently be found in rats, bats, birds, and a range of other species that developed even earlier in the phylogenetic tree. Thus, the origins of human gesture lie in biomechanics, emerging early in ontogeny and running deep in phylogeny