Spastic paraplegia 15: Linkage and clinical description of three Tunisian families

Hereditary spastic paraplegias (HSP) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by slowly progressive spasticity of the lower limbs. The locus designated spastic paraplegia 15 (SPG15), located in a 16‐Mb interval on chromosome 14q, is associated with a rare autosomal recessive complicated form of HSP known as Kjellin's syndrome. In this study, we describe three additional families, of Tunisian origin, linked to the SPG15 locus, one of which had a significant multipoint LOD score of 3.46. In accordance with previous reports, the phenotype of our patients consisted of early onset spastic paraparesis associated with mental impairment and severe progression. Retinal degeneration was not observed, however, but we extended the phenotype of this form to include peripheral neuropathy and white matter abnormalities on MRI. Interestingly, like retinal degeneration, thin corpus callosum is not a constant feature in this entity. © 2007 Movement Disorder Society     

Paradoxical increase of positive answers to the Cut-down, Annoyed, Guilt, Eye-opener (CAGE) questionnaire during a period of decreasing alcohol consumption: results from two population-based surveys in Ile-de-France, 1991 and 2005

AIMS: To describe trends of responses to the Cut-down, Annoyed, Guilt, Eye-opener (CAGE) questionnaire during a period of declining alcohol consumption, in a country with no temperance history. DESIGN: Two random-sample surveys, conducted in 1991 and 2005, respectively. SETTING: The adult population of Ile-de-France. PARTICIPANTS: A total of 1183 subjects in 1991 and 5382 subjects in 2005. MEASUREMENTS: Responses to CAGE questions, obtained by face-to-face interviews in 1991 and by telephone in 2005. RESULTS: were standardized on the 2005 population structure. FINDINGS: The proportion of subjects giving at least two positive answers has increased by 4.2 times; the biggest increase was observed for the Guilt question (4.8 times) and the smallest for the Eye-opener question (2.6 times). Several increases were higher for women than for men: 12.9 times versus 3.3 times for two or more positive answers, 9.8 times versus 3.8 times for the Guilt question. Increases did not vary consistently by age. CONCLUSION: These paradoxical trends do not support the use of CAGE in general population surveys. They confirm previous reports suggesting that CAGE was sensitive to community temperance level. They might reflect the emergence of a temperance movement in France, with stronger impact among women. This movement might be responsible for the fall in alcohol consumption.     

Nurses in private practice in France

In the French health care system, most nurses work in hospitals as salaried, but a number are also salaried in health centers or operate in their private offices. About 48,000 are private practitioners, they provide nearly all the ambulatory nursing care to the population. A survey undertaken in early 2004 shows that on the average, their weekly working time is 40 hours: 10 hours are devoted to injections, 9 to dressings, 17 to nursing care and 4 to other activities. Out of 10 nurses in private practice, 3 think that their workload is too heavy. Moreover, 19% declare that they are willing to leave private practice over the 3 coming years. If all the individual plans become reality, more that 9000 private nurses would disappear during the coming years from a workforce of 48,000:2900 would retire, 2700 would become salaried in hospitals, 3200 would take up an other job and 400 would become temporary workers in interim companies. Will the tasks they let be carried out by their remaining colleagues? No doubt that this will not be the case only 7% of the surveyed professionals declare that they are willing to increase their workload. As nurses shortage in French hospitals is evident nowadays, it seems that shortage in ambulatory care is unavoidable. The surveyed nurses point out 3 important difficulties they are encountering. One nurse out of 4 complain about the heavy administrative procedures i.e. the numerous and complex forms they have to fill out. One out of 6 complains about the lack of locum tenets. Furthermore, one out of 15 are in favour of suppressing the official "Nursing Care Approach" which was promoted recently, precisely to highlight the importance of their professional work.     

Effect of chronic hypoxia on pulmonary artery blood velocity in rats as assessed by electrocardiography-triggered three-dimensional time-resolved MR angiography

Pulmonary arterial hypertension (PAH) is a severe disease that leads to increased pulmonary vascular resistance and right heart failure. Noninvasive methods are needed to detect changes in the pulmonary artery circulation during PAH establishment and/or treatment. Pulmonary blood flow velocity can be evaluated by dynamic MR angiography, although the relevance of such data in the context of PAH remains to be demonstrated. A novel dynamic MR angiography technique was used in this work to measure blood flow velocity in the pulmonary arteries of the same living animals, before and after the establishment of chronic hypoxia‐induced PAH. Chronic hypoxia decreased significantly the blood flow velocity (43.8 ± 4.9 vs 24.3 ± 8.7 cm/s) on electrocardiography‐triggered time‐resolved angiograms. In parallel, chronic hypoxia‐induced PAH was confirmed from invasive measurements of the mean pulmonary arterial pressure (32.1 ± 4.8 vs 12.5 ± 2.2 mmHg) and the ratio of the right ventricle weight to the left ventricle plus septum weight (Fulton index: 0.54 ± 0.06 vs 0.27 ± 0.04). This study demonstrates the potential interest of dynamic MR angiography for the investigation of experimental models and for the evaluation of treatment efficacy. Copyright © 2010 John Wiley & Sons, Ltd.     

Protein-induced satiety is abolished in the absence of intestinal gluconeogenesis

Protein-enriched diets are well known to initiate satiety effects in animals and humans. It has been recently suggested that this might be dependent on the induction of gluconeogenesis in the intestine. The resulting intestinal glucose release, detected by a “so-called” glucose sensor located within the walls of the portal vein and connected to peripheral afferents, activates hypothalamic nuclei involved in the regulation of food intake, in turn initiating a decrease in hunger. To definitively demonstrate the role of intestinal gluconeogenesis in this mechanism, we tested the food intake response to a protein-enriched diet in mice with an intestine-specific deletion (using an inducible Cre/loxP strategy) of the glucose-6 phosphatase gene (I-G6pc^−/− mice) encoding the mandatory enzyme for glucose production. There was no effect on food intake in I-G6pc^−/− mice fed on a standard rodent diet compared to their wild-type counterparts. After switching to a protein-enriched diet, the food intake of wild-type mice decreased significantly (by about 20% of daily calorie intake), subsequently leading to a decrease of 12 ± 2% of initial body weight after 8 days. On the contrary, I-G6pc^−/− mice were insensitive to the satiety effect induced by a protein-enriched diet and preserved their body weight. These results provide molecular evidence of the causal role of intestinal gluconeogenesis in the satiety phenomenon initiated by protein-enriched diets.