Spectrophotometric analysis of lipid used to examine the phenology of the tick <i>Ixodes ricinus</i>

Ticks store lipid as an energy souce, which depletes progressively between blood meals. The amount of lipid and rate of lipid depletion can be used as a good indicator of the feeding history and assist in explaining the phenology of tick populations. However, existing gravimetric approaches to lipid measurement are relatively imprecise. To improve our ability to accurately measure lipid accumulation and metabolism in individual ticks, a microquantity colorimetric sulfophosphovanillan method of lipid estimation was standardised and used to explore the seasonal variations in the lipid content of I. ricinus nymphs.Lipid values for field-derived questing ticks, collected by blanket dragging, varied between 5-45 μg and clear patterns of lipid depletion were demonstrated under controlled laboratory conditions. For field populations collected monthly over two years, the results indicate that two different cohorts of nymphs enter the questing tick population in autumn and spring, with very few nymphs joining the population in summer.The data illustrate the seasonal change in lipid content of nymphal ticks, reflecting their feeding history and highlight the utility of the spectrophotometric technique for analysis of lipid in ticks in helping to improve our understanding of seasonal activity patterns

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

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Ahi1 Mutations Cause Both Retinal Dystrophy and Renal Cystic Disease in Joubert Syndrome

Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar tooth sign (MTS) on cranial MRI. Four genetic loci have been mapped, with two genes identified (AHI1 and NPHP1). Methods: We screened a cohort of 117 JS subjects for AHI1 mutations by a combination of haplotype analysis and sequencing of the gene, and for the homozygous NPHP1 deletion by sequencing and marker analysis. Results: We identified a total of 15 novel AHI1 mutations in 13 families, including nonsense, missense, splice site, and insertion mutations, with some clustering in the WD40 domains. Eight families were consanguineous, but no single founder mutation was apparent. In addition to the MTS, retinal dystrophy was present in 11 of 12 informative families; however, no subjects exhibited variable features of JS such as polydactyly, encephalocele, colobomas, or liver fibrosis. In contrast to previous reports, we identified two families with affected siblings who developed renal disease consistent with nephronophthisis (NPH) in their 20s. In addition, two individuals with classic NPH were found to have homozygous NPHP1 deletions. Conclusions: Overall, 11% of subjects had AHI1 mutations, while similar to 2% had the NPHP1 deletion, representing a total of less than 15% in a large JS cohort. Some preliminary genotype- phenotype correlations are possible, notably the association of renal impairment, specifically NPH, in those with NPHP1 deletions. Subjects with AHI1 mutations may be at risk of developing both retinal dystrophy and progressive kidney disease

Axial spondylometaphyseal dysplasia: Additional reports.

Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943-968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550-1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance. © 2011 Wiley-Liss, Inc

Savoirs locaux et agriculture durable au Yémen

Réalisé en partenariat avec le Centre Yéménite de Ressources Génétiques, ce numéro des ‘Cahiers du CEFAS’, qui fait suite à deux précédents ‘Cahiers du CFEY’, réunit une sélection de 19 articles issus du séminaire Place des pratiques et des techniques anciennes dans l’agriculture yéménite d’aujourd’hui : problèmes et perspectives, qui s’était tenu en juin 2000 à la Faculté d’Agriculture de Sanaa et dans les locaux du CEFAS. Plus de trente anthropologues, archéologues, géographes, historiens, agronomes et spécialistes du développement, étrangers et yéménites, ont pris la parole au cours de ces journées de rencontres et d’échanges.Loin d’un regard nostalgique sur l’image d’une agriculture yéménite immuable qui aurait échappé à toute modernisation ‘néfaste’ de ses pratiques et de ses techniques, et bien loin d’un débat remettant en question des avancées technologiques ‘excessives’ et leurs éventuels effets sur l’environnement et la qualité de l’alimentation, il fut davantage question ici de réfléchir aux interventions en matière de développement dans un pays principalement d’économie rurale et pour lequel toute politique de développement doit s’appuyer en priorité sur le travail de sa population paysanne.This third publication of ‘Cahiers du CEFAS’ –previously named ‘Cahiers du CFEY’- results from a partnership with the Yemeni Genetic Resources Center (YGRC) and consists of 19 articles selected from the seminar The place of ancient agricultural practices and techniques in Yemen today : problems and perspectives, held in June 2000, at the Faculty of Agriculture of Sanaa University and in the CEFAS. More than 30 anthropologists, archaeologists, geographers, historians, agronomists and development specialists, from Yemen and abroad, participated in the meetings. Far from being a nostalgic point of view on a potentially ‘unchanging’ Yemeni agriculture, protected from any ‘harmful’ modernisation of its practices and techniques, and at the same time, far from discrediting ‘excessive’ technological improvements and their effects on environment or food quality, this seminar was clearly dedicated to sharing ideas related to development operations in this mainly rural country, where any development policy has to, in all cases, rely upon farmers’ labour