BACKGROUND The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation ...

In 1984, we proposed to study the need for episiotomy in the first North American randomized controlled trial on this subject. Getting funded and published proved to be difficult since we were questioning not only established views on episiotomy but also conventional beliefs about birth. During the 10-year process from conceptualization to publishing, we were confronted with the paradigm of bir...

For several decades, Peter Alheit has been an influential advocate of biographical research. Typically, his writing is distinguished by a capacity for balancing the particularity of individual biography with a search for patterns and trends. This analytical balancing act rests on a foundation of sociological theory (developing concepts from the work of Pierre Bourdieu and Norbert Elias among ot...

Case 1 GB is a 4 month old male currently living with his aunt. His mother is deceased and nothing is known about the mother’s health or the birth history. Over the last 4 weeks, GB developed worsening watery non-bloody diarrhea and felt warm to his caregivers. Over the last week his oral intake decreased significantly; he is being fed formula and phala (soft maize porridge). On examination, GB...

Bourdieu’s intermittent allusions to Spinoza’s conatus disclose the weaknesses of his concept habitus. A thorough inspection involvement with Spinozist legacy reveals a long-lasting inconsistency, for he expects that will assist him in both 1) grounding habitus and solving uncertainties surround this notion by endorsing strong conatus, impervious resistances it eventually encounter; 2) re-insta...

The theme of human action has undoubtedly been one of the central areas of investigation and debate within the sociological arena during the latter part of the 20 century. Among the ‘amalgamation of theories and theorists’ who have presented their accounts of human agency, two academics –and their ideashave monopolised most of the attention: Tony Giddens and his ‘Theory of Structuration’ and Pi...

There is evidence that alcohol consumption among those in middle-class occupations consistently exceeds safe levels, yet there has been little research into why this occurs. This article explores the meanings associated with alcohol use among professional, managerial and clerical workers. Qualitative data were collected from five focus groups of male and female employees aged 21-55 (N =49: 32 m...

Both the amino-terminal and carboxyl-terminal domains of IGF binding protein (IGFBP)-3 are believed to contribute to high-affinity IGF binding. To investigate cooperativity in IGF binding by these domains, we expressed IGFBP-3 fragments 1-88 (NBP-3) and 185-264 (CBP-3) as FLAG and hexahistidine-tagged fusion proteins, respectively. IGF-I and IGF-II bound to NBP-3 poorly and to CBP-3 with modera...

The major light-harvesting chlorophyll a/b-binding protein (Lhcb1,2) of photosystem II is inserted into the thylakoid via the signal recognition particle dependent pathway. However, the mechanism by which the protein enters the membrane is at this time unknown. In order to define some topographical restrictions for this process, we constructed several recombinant derivatives of Lhcb1 carrying h...