Genomic architecture of sickle cell disease clinical variation in children from West Africa : a case-control study design

Contexte : L’anémie falciforme ou drépanocytose est un problème de santé important, particulièrement pour les patients d’origine africaine. La variation phénotypique de l’anémie falciforme est problématique pour le suivi et le traitement des patients. L’architecture génomique responsable de cette variabilité est peu connue. Principe : Mieux saisir la contribution génétique de la variation clinique de cette maladie facilitera l’identification des patients à risque de développer des phénotypes sévères, ainsi que l’adaptation des soins. Objectifs : L’objectif général de cette thèse est de combler les lacunes relatives aux connaissances sur l’épidémiologie génomique de l’anémie falciforme à l’aide d’une cohorte issue au Bénin. Les objectifs spécifiques sont les suivants : 1) caractériser les profils d’expressions génomiques associés à la sévérité de l’anémie falciforme ; 2) identifier des biomarqueurs de la sévérité de l’anémie falciforme ; 3) identifier la régulation génétique des variations transcriptionelles ; 4) identifier des interactions statistiques entre le génotype et le niveau de sévérité associé à l’expression ; 5) identifier des cibles de médicaments pour améliorer l’état des patients atteints d’anémie falciforme. Méthode : Une étude cas-témoins de 250 patients et 61 frères et soeurs non-atteints a été menée au Centre de Prise en charge Médical Intégré du Nourrisson et de la Femme Enceinte atteints de Drépanocytose, au Bénin entre février et décembre 2010. Résultats : Notre analyse a montré que des profils d’expressions sont associés avec la sévérité de l’anémie falciforme. Ces profils sont enrichis de génes des voies biologiques qui contribuent à la progression de la maladie : l’activation plaquettaire, les lymphocytes B, le stress, l’inflammation et la prolifération cellulaire. Des biomarqueurs transcriptionnels ont permis de distinguer les patients ayant des niveaux de sévérité clinique différents. La régulation génétique de la variation de l’expression des gènes a été démontrée et des interactions ont été identifiées. Sur la base de ces résultats génétiques, des cibles de médicaments sont proposées. Conclusion: Ce travail de thèse permet de mieux comprendre l’impact de la génomique sur la sévérité de l’anémie falciforme et ouvre des perspectives de développement de traitements ciblés pour améliorer les soins offerts aux patients.

Compte rendu : « Veilleurs de nuit. Saison théâtrale 1988-1989 » de David Gilbert

Compte rendu critique de l'ouvrage de Gilbert « Veilleurs de nuit : saison théâtrale 1988-1989 » (Montréal : Les Herbes rouges, 1989, 78 p.).

South-West Monsoon Rainfall of Kerala and Its Variability

This study focuses on the south –west monsoon rainfall over Kerala and its variability both on the spatial and temporal scales. The main objectives of the study are, interanual, long-term and decadal variabilities in MRF(monsoon rain fall),relationship between antecedent global circulation parameters, diurnal variability using data of a large number of stations in Kerala and the spatial distribution of rainfall under two large scale synoptic. Kerala gets nearly 190cm of rainfall during the south-west monsoon season 1st June to 30th September. This is more than twice the monsoon rainfall of India. A good part of kerala’s rainfall is caused by the orography of the Western Ghats Mountain ranges. The state receives 286cm of annual rainfall of which 68%is during the south-west monsoon season. The summer monsoon rainfall of Kerala shows a decreasing trend of 12.0%in 96 years. The study shows that the Intra Seasonal Oscillations(ISO) of the monsoon season has large interanual variability,some years having long period and other years having short period ISO. It is seen that Western Ghats has a strong control on the east west profile on the monsoon rainfall.

Geochemical, Sedimentological And Remote Sensing Studies Of Kayamkulam Estuary, South West Coast Of India- A Gis Approach

In this study, an attempt has been made to find the textural, geochemical, sedimentological characteristics of sediments and water phases of the kayamkulam estuary located in the Southwest coast of Kerala, besides the impact of gas based thermal power plant located at the northern part of the estuary. Estuaries are an important stage in the transport of the solid weathering product of the earth’s crust. These weathered products or sediments are complex mixtures of a number of solid phases that may include clays, silica, organic matter, metal oxides, carbonates, sulfides and a number of minerals. Studies on the aquatic systems revealed the fact that it posses severe ecological impairments due to heavy discharge of sediments from 44 rivers, the continued disposal of pollutants rich materials from industries, sewage channels, agricultural areas and retting yards

Macrobenthos of the Shelf Waters of the West Coast of India

The work was carried out with an objective to know the quantitative and qualitative nature of the macrobenthos in relation to the existing hydrographical parameters and sediment characteristics. With the above two cruises were conducted to collect materials. Representative samples were collected from each degree square of the western continental shelf. The study deals with the hydrographic parameters. The bottom water temperature, salinity and dissolved oxygen were measured. The findings showed variations according to depth and latitude. The study gives the details of sediment characteristics of the study area. 7 different types of substrata were noticed. It also explains the macro faunal composition and diversity, and the standing stock of macrobenthos. The wet-weight and numerical abundance of macrobenthic groups are included. The thesis discusses the relation between hydrography and macrobenthos, and sediment characteristics and macrobenthos, based on the results obtained by statistical analysis of the data. It also investigates the relation between macrobenthos and fishery.

Geophysical Constraints on Structure and Tectonics of the Eastern Arabian Sea and the Adjoining West Coast of India with Special Reference to the Kerala Basin

The main objective of the present study is to model the gravity fields in terms of lithospheric structure below the western continental margin of India (WCMI) identify zones of crustal mass anomalies and attempt to infer the location of Ocean Continent transition in the Arabian Sea. In this study, the area starting from the western shield margin to the region covering the deep oceanic parts of the Arabian Sea which is bounded by Carlsberg and Cerg and Central Indian ridges in the south, eastern part of the Indus Cone in the west and falling between 630E and 800E longitudes, and 50N - 240N latitudes has been considered. The vast amount of seismic reflection and refraction data in the form of crustal velocities, basement configuration and crustal thicknesses available for the west coast as well as the eastern Arabian Sea has been utilized for this purpose

Sea Level Variations during the Late Quaternary and Coastal Evolution along the Northern Kerala, South West of India

In the present investigation, an attempt is made to document various episodes of transgression and regression during the late Quaternary period from the study of coastal and shelf sequences extending from the inland across the beach to the shelf domain. Shore parallel beach ridges with alternating swales and occurrence of strand line deposits on the shelf make the northern Kerala coast an ideal natural laboratory for documenting the morpho-dynamic response of the coast to the changing sea level. The objectives of the study are lithographic reconstruction of environments of deposition from the coastal plain and shelf sequences; documentation of episodes of transgression and regression by studying different coastal plain sequences and shelf deposits and evolve a comprehensive picture of late Quaternary coastal evolution and sea level changes along the northern Kerala coast by collating morphological, lithological and geochronological evidences from the coastal plain and shelf sequences. The present study is confined to two shore-normal east-west trending transects, Viz. Punjavi and Onakkunnu, in the northern Kerala coast.

Polycyclic aromatic hydrocarbons and toxic trace metals in seawater and sediments from the west coast of India and their bioaccumulation in some selected species of fishes

Polycyclic Aromatic Hydrocarbons and other toxic compounds from industrial effluents are noted for their high potency for skin, lung, bladder and gastrointestinal cancers. Increased industrialization, and population growth led to greater production of wastes, Pesticides and PAHs have received attention due to their carcinogenic effects. The main objectives of the study were; to collect base line data on the concentration of PAHs in seawater and sediment from the west coast of India, the concentration of PAHs in certain species of fishes, the comparative levels of PAHs in fish, the influence of sediment characteristics on the concentration of PAH in sediment, changes in PAH concentration in water, sediment and fish, to provide a base line concentration of trace metals in water, sediment and fish, the seasonal changes in content of selected trace metals in water, sediment and fish from the west coast of India. The present study revealed that a predominance of silt and clay at all stations in the off Cochin area. The study has provided comprehensive information available to date for PAHs in seawater, sediment and fishes from the west cost of India especially from the Quilon to Mangalore region.

Nutrient Dynamics in the EEZ of the West Coast of India with Special Reference to the Oxygen Minimum Zone and Denitrification

The present work aims at deciphering the processes that control the nutrient distribution along the EEZ (Exclusive Economic Zone of India) of the west coast of India and to bring out its linkage with primary and secondary productivity. This work assume utmost importance as very few studies have hitherto focused entirely on the EEZ of the west coast of India to address the biochemical responses brought about by monsoons. The present study examines the seasonal variations in physicochemical parameters and associated primary biological responses along the west coast of India. This study targets to measure and understand the shelf ocean exchange in a typical coastal upwelling region of the southeast Arabian Sea, and the influence of convective mixing along the northern part of the west coast of India. The study focuses more directly on coastal upwelling along the southwest coast of India, within the EEZ. The effects of coastal upwelling, eddy formation and the offshore advection are apparent in the present investigation. This has consequences to fisheries and climate, in energy transfer to the food chain and the increased sequestering of carbon in the ocean. The study also focuses on the Oxygen Minimum Zone (OMZ) and dentrification observed along the EEZ of the west coast of India on a seasonal scale. In the study, an attempt is also made to demarcate the geographical boundaries of the denitrification zone in the EEZ of India and on the nature and magnitude of these variations, on a seasonal and inter annual scales

Studies on Diatoms along the South West Coast of India in Relation to the Hydrological Parameters

The main objective of the study was primarily to determine the effect of hydrographical parameters especially nutrients which were supplied externally to the seawater while culturing the diatom Chaetoceros calcitrans, under laboratory conditions, and to determine its optimum concentration for ideal growth of the culture, in such a condition of increased rate of pollution due to the industrialization and effluents. Also an attempt was made to study the possible correlation of diatom abundance in the South west Coast of India with the landings of the pelagic fishery resources, especially sardine, mackerel and anchovy, since these fishes are largely diatom feeders. Positive correlation was found between the diatoms and pelagic fish landings of Thalassery and Vizhinjam area while at Cochin there was less significant correlation between the two variables

Mixed layer characteristics and hydrography off the west and east coasts of India

In this thesis, a detailed attempt has been made to understand the general hydrography of the upper 300m of the water column, in the eastern Arabian Sea and the western Bay of Bengal, the two contrasting basins in the northern Indian Ocean, using recently collected data sets of Marine Research-Living Resources (MR-LR) assessment programme, funded by Department of Ocean Development, from various cruises, pertaining to different seasons. Initially it discuss the general hydrography of the west and east coasts of India are covered, in the context of mixed layer processes. The study describes the materials and methods . To compare the hydrography of the AS and BOB, a unique MLD(Mixed Layer Depth) definition for AS and BOB is essential, for which the 275 CTD profiles were used. A comparison has been made among the various MLD criteria with the actual MLD. The monthly evolution of MLD, barrier layer thickness and the role of atmospheric forcing on the dynamics of the mixed layer in the AS and BOB were studied. The general hydrography along the west coast of India is described. The upwelling/downwelling, winter cooling processes, in the context of chemical and biological parameters, are also addressed. Finally the general hydrography of the Bay of Bengal is covered. The most striking feature in the hydrography are the signature of an anticyclonic subtropical gyre during spring intermonsoon and a cold core eddy during winter monsoon. The TTS(Typical Tropical Structure) of the euphotic layer was also investigated.