Second season of the Saudi-French mission in al-Yamāma, al-Kharj area (11 November - 18 December 2012)

Report of the archaeological, geophysical, archaeozoological and topographical activities of the French-Saudi mission in the oasis of al-Kharj, 80 km South of Riyadh, in the Central Province of Saudi Arabia carried out from November 11 to December 18 2012. It includes chapters on: - The geographic and historical setting - Description on the Registration system - Report of the exploration of the site of al-Yamāma (geophysical survey, topographical survey, archaeological sounding, , excavation of a mosque, zooarchaeological study, restoration process) and a geomorphological study of al-Kharj area

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to <i>FAM111B </i>mutations

BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. METHODS: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. RESULTS: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. CONCLUSIONS: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder

Bone Marrow Transplant

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy

Recherches historiques et géomorphologiques sur la localisation de l’hippodrome de Delphes

L’emplacement exact de l’hippodrome de Delphes est depuis peu fortement débattu. Il est vrai que l’imprécision des sources littéraires, associée à des paysages qui ont fortement changé depuis plus de 2000 ans n’ont toujours pas permis sa localisation. Dans cet article, une double approche originale fondée sur l’étude approfondie de ces fragments littéraires et épigraphiques ainsi que sur une étude géomorphologique de terrain nous a permis de mettre en évidence une zone susceptible d’avoir accueilli les courses hippiques dans l’Antiquité. Située au bas du versant sud du sanctuaire et légèrement au-dessus de la plaine, sa surface plane au sol est d’environ 11 hectares. L’argument topographique ne suffisant pas pour proposer une hypothèse sérieuse, différents critères indispensables à l’établissement d’un hippodrome ont été ici discutés et confrontés aux dynamiques environnementales locales : dimensions de la piste, présence ou non d’eau à proximité, accessibilité et distance au sanctuaire et enfin possibilité d’aménager cet espace pour les spectateurs

Recherches historiques et géomorphologiques sur la localisation de l’hippodrome de Delphes

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Landscape and settlement process in al-Kharj oasis (province of Riyadh)

International audienceThis paper confronts the proto-historical and historical settlement pattern in al-Kharj oasis (Central Arabia) with the environmental context by taking into account the results of the recent fieldwork. By superimposing an archaeological map of the oasis on the geomorphological map, different settlement strategies appear at different period of time. During the Bronze and Iron Ages, the location of the sites – mostly necropolises – is dictated by the geological, topographic and hydrological contexts. Systematically close to a source of water, the necropolises are nevertheless located far enough from the threat of floodwaters, in a dominant position. As markers in the landscape, they played a role in the appropriation of land by Bronze Age populations. The settlement pattern drastically changes at the turn of the Christian era. Then, the location of sites – mostly settlements – is dictated by the close proximity of arable lands. At a certain stage of their development that we are inclined to date to the very Late Pre-Islamic and Early Islamic periods, local populations started to take benefit of all the water sources available in the oasis for agricultural purposes, including those outside the alluvial plain, by digging monumental hydraulic structures

Lechaion Harbour Project : enjeux et perspectives de l’étude géoarchéologique du principal port antique de Corinthe

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Commerce et gentrification. Le commerce comme marqueur, vecteur ou frein de la gentrification. Regards croisés à Berlin, Bruxelles et Paris.

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