On the mechanism of enzyme action. XLV. The role of certain dicarboxylic acids in the formation of oxalic acid by wood-destroying molds

Alkalinity of the medium was shown to be the chief factor involved in the accumulation of oxalate by T. cinnabarina. Glutamate and aspartate are shown to lead to oxalate with this organism and with L. lepideus by dehydrogenation to α-ketoglutarate and oxaloacetate, respectively. Malate was also shown to be dehydrogenated. It is proposed that oxaloacetate may either undergo β-decarboxylation to yield CO₂ and pyruvate, or splitting by coenzyme A to yield oxalate and acetylated coenzyme A. The reversal of this latter reaction is suggested as the explanation of the disappearance of oxalate from culture media. The reduction of resazurin by the dehydrogenase systems of the molds is inhibited by cyanide, indicating the participation of metal systems, such as the cytochromes.     

Incidence of cystic fibrosis in Saguenay-Lac-St.-Jean (Quebec, Canada).

The incidence of cystic fibrosis (CF) in Saguenay-Lac-St.-Jean, a geographically isolated region of Quebec, was estimated to be 1 in 902 during the period 1975-1988. The carrier rate was calculated to be 1 in 15 inhabitants. The high incidence of CF in Saguenay-Lac-St.-Jean is probably the result of a founder effect and genetic drift for one or more mutations. Historical, demographic, and social factors also may have contributed to the high incidence.     

The Influence of Texting Language on Grammar and Executive Functions in Primary School Children

When sending text messages on their mobile phone to friends, children often use a special type of register, which is called textese. This register allows the omission of words and the use of textisms: instances of non-standard written language such as 4ever (forever). Previous studies have shown that textese has a positive effect on children’s literacy abilities. In addition, it is possible that children’s grammar system is affected by textese as well, as grammar rules are often transgressed in this register. Therefore, the main aim of this study was to investigate whether the use of textese influences children’s grammar performance, and whether this effect is specific to grammar or language in general. Additionally, studies have not yet investigated the influence of textese on children’s cognitive abilities. Consequently, the secondary aim of this study was to find out whether textese affects children’s executive functions. To investigate this, 55 children between 10 and 13 years old were tested on a receptive vocabulary and grammar performance (sentence repetition) task and various tasks measuring executive functioning. In addition, text messages were elicited and the number of omissions and textisms in children’s messages were calculated. Regression analyses showed that omissions were a significant predictor of children’s grammar performance after various other variables were controlled for: the more words children omitted in their text messages, the better their performance on the grammar task. Although textisms correlated (marginally) significantly with vocabulary, grammar and selective attention scores and omissions marginally significantly with vocabulary scores, no other significant effects were obtained for measures of textese in the regression analyses: neither for the language outcomes, nor for the executive function tasks. Hence, our results show that textese is positively related to children’s grammar performance. On the other hand, use of textese does not affect—positively nor negatively—children’s executive functions.     

RGD Surface Functionalization of the Hydrophilic Acrylic Intraocular Lens Material to Control Posterior Capsular Opacification

Posterior Capsular Opacification (PCO) is the capsule fibrosis developed on implanted IntraOcular Lens (IOL) by the de-differentiation of Lens Epithelial Cells (LECs) undergoing Epithelial Mesenchymal Transition (EMT). Literature has shown that the incidence of PCO is multifactorial including the patient''s age or disease, surgical technique, and IOL design and material. Reports comparing hydrophilic and hydrophobic acrylic IOLs have shown that the former has more severe PCO. On the other hand, we have previously demonstrated that the adhesion of LECs is favored on hydrophobic compared to hydrophilic materials. By combining these two facts and contemporary knowledge in PCO development via the EMT pathway, we propose a biomimetically inspired strategy to promote LEC adhesion without de-differentiation to reduce the risk of PCO development. By surface grafting of a cell adhesion molecule (RGD peptide) onto the conventional hydrophilic acrylic IOL material, the surface-functionalized IOL can be used to reconstitute a capsule-LEC-IOL sandwich structure, which has been considered to prevent PCO formation in literature. Our results show that the innovative biomaterial improves LEC adhesion, while also exhibiting similar optical (light transmittance, optical bench) and mechanical (haptic compression force, IOL injection force) properties compared to the starting material. In addition, compared to the hydrophobic IOL material, our bioactive biomaterial exhibits similar abilities in LEC adhesion, morphology maintenance, and EMT biomarker expression, which is the crucial pathway to induce PCO. The in vitro assays suggest that this biomaterial has the potential to reduce the risk factor of PCO development.     

Hereditary retinoblastoma: can balanced insertion entirely explain the differences of expressivity among families?

Summary Although the retinoblastoma gene has been isolated and sequenced, the difference in penetrance and expressivity among families has not yet been fully explained. Balanced chromosomal insertion involving the 13q14 regions has been shown to account for some families with several unaffected carriers. Since there could be cases with karyotypically undetectable insertions, we tested whether this mechanism was general enough to explain the whole difference in expressivity among families. Using 166 pedigrees, reported in nine series available in the literature (including our own), we conclude that balanced insertion cannot entirely explain the familial data, even if we allow for a reduced viability of unbalanced gametes. Other mechanisms are proposed and discussed in this paper.     

Selective Vulnerability of Spinal and Cortical Motor Neuron Subpopulations in delta7 SMA Mice

Loss of the survival motor neuron gene (SMN1) is responsible for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. Even though the SMA phenotype is traditionally considered as related to spinal motor neuron loss, it remains debated whether the specific targeting of motor neurons could represent the best therapeutic option for the disease. We here investigated, using stereological quantification methods, the spinal cord and cerebral motor cortex of ∆7 SMA mice during development, to verify extent and selectivity of motor neuron loss. We found progressive post-natal loss of spinal motor neurons, already at pre-symptomatic stages, and a higher vulnerability of motor neurons innervating proximal and axial muscles. Larger motor neurons decreased in the course of disease, either for selective loss or specific developmental impairment. We also found a selective reduction of layer V pyramidal neurons associated with layer V gliosis in the cerebral motor cortex. Our data indicate that in the ∆7 SMA model SMN loss is critical for the spinal cord, particularly for specific motor neuron pools. Neuronal loss, however, is not selective for lower motor neurons. These data further suggest that SMA pathogenesis is likely more complex than previously anticipated. The better knowledge of SMA models might be instrumental in shaping better therapeutic options for affected patients.