114 research outputs found
Calcul par ordinateur et techniques de fouille. Précisions sur le Kébarien ancien de Jiita (Liban)
No full textDifferent ways of factorial analysis have been utilised to check the stratigraphy recognised during the five years excavation in the Kebaran levels at Jiita II (Lebanon). Once the stratigraphy securely established, the same methods were used to isolate the various fades of this Kebaran. The result is that the early Kebaran of Jiita includes some aspects, characteristic enough to be distinguished, but their succession is rather quick. So it is necessary to follow a very precise and rigourous way of digging.Trois méthodes d'analyse factorielle ont été utilisées pour vérifier la stratigraphie observée durant cinq années de fouilles dans les niveaux Kébariens du gisement de Jiita II (Liban), puis, une fois la stratigraphie établie de façon sûre, pour déterminer les différents faciès de ce Kébarien ancien. Il apparaît ainsi que ce dernier comporte des aspects suffisamment caractéristiques pour pouvoir être distingués, mais que leur succession rapide exige, pour qu'on puisse les reconnaître, une méthode de fouille extrêmement rigoureuse.Hours F., Loiselet J. Calcul par ordinateur et techniques de fouille. Précisions sur le Kébarien ancien de Jiita (Liban). In: Paléorient, 1975, vol. 3. pp. 151-179
Diabetes mellitus and optic atrophy: A study of Wolfram syndrome in the Lebanese population
No full textWolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). WFS seems to be a heterogeneous disease that has not yet been fully characterized in terms of clinical features and pathophysiological mechanisms because the number of patients in most series was small. In this study we describe 31 Lebanese WFS patients belonging to 17 families; this, to our knowledge, is the largest number of patients reported in one series so far. Criteria for diagnosis of WFS were the presence of insulin-dependent diabetes mellitus and optic atrophy unexplained by any other disease. Central diabetes insipidus was found in 87percent of the patients, and sensorineural deafness confirmed by audiograms was present in 64.5percent. Other less frequent features included neurological and psychiatric abnormalities, urodynamic abnormalities, limited joint motility, cardiovascular and gastrointestinal autonomic neuropathy, hypergonadotropic hypogonadism in males, and diabetic microvascular disease. New features, not reported in previous descriptions, such as heart malformations and anterior pituitary dysfunction, were recognized in some of the patients and participated in the morbidity and mortality of the disease. Genetic analysis revealed WFS1 gene mutations in three families (23.5percent), whereas no abnormalities were detected in mitochondrial DNA. In conclusion, WFS is a devastating disease for the patients and their families. More information about WFS will lead to a better understanding of this disease and hopefully to improvement in means of its prevention and treatment.ALDENHOVEL HBG, 1991, NEUROPEDIATRICS, V22, P103; Al-Sheyyab M, 2001, EUR J PEDIATR, V160, P243, DOI 10.1007-s004310000704; BARRETT TG, 1995, LANCET, V346, P1458, DOI 10.1016-S0140-6736(95)92473-6; Barrett TG, 2000, J MED GENET, V37, P463, DOI 10.1136-jmg.37.6.463; Barrientos A, 1996, AM J HUM GENET, V58, P963; Barrientos A, 1996, J CLIN INVEST, V97, P1570, DOI 10.1172-JCI118581; Baz P, 1999, DIABETES CARE, V22, P1376; Bekir NA, 2000, ACTA OPHTHALMOL SCAN, V78, P480, DOI 10.1034-j.1600-0420.2000.078004480.x; BUNDEY S, 1992, J INHERIT METAB DIS, V15, P315, DOI 10.1007-BF02435965; Collier DA, 1996, AM J HUM GENET, V59, P855; COX RW, 1993, DIABETES CARE, V16, P662; CURADO FJA, 2000, ACTAS UROL ESP, V24, P504; El-Shanti H, 2000, AM J HUM GENET, V66, P1229, DOI 10.1086-302858; Evans KL, 2000, AM J MED GENET, V96, P158, DOI 10.1002-(SICI)1096-8628(20000403)96:2158::AID-AJMG63.0.CO;2-8; Genis D, 1997, ACTA NEUROPATHOL, V93, P426; Gomez-Zaera M, 2001, MOL GENET METAB, V72, P72, DOI 10.1006-mgme.2000.3107; GUNN T, 1976, J PEDIATR, V89, P565, DOI 10.1016-S0022-3476(76)80387-3; Gupta K L, 1994, J Assoc Physicians India, V42, P831; Hardy C, 1999, AM J HUM GENET, V65, P1279, DOI 10.1086-302609; HOFFMANN S, 1997, GENOMICS, V39, P8; HOMAN MR, 1987, DIABETES CARE, V10, P664; Inoue H, 1998, NAT GENET, V20, P143, DOI 10.1038-2441; Kato T, 2001, NEUROSCI RES, V40, P105, DOI 10.1016-S0168-0102(01)00221-8; KINSLEY BT, 1995, DIABETES CARE, V18, P1566, DOI 10.2337-diacare.18.12.1566; Krittiyawong Sirinate, 2000, Journal of the Medical Association of Thailand, V83, P1283; Krolewski AS, 1996, ENDOCRIN METAB CLIN, V25, P217, DOI 10.1016-S0889-8529(05)70322-4; LEIVASANTANA C, 1993, REV NEUROL, V149, P26; LIM M C L, 1990, Annals Academy of Medicine Singapore, V19, P548; Middle F, 2000, AM J MED GENET, V96, P154, DOI 10.1002-(SICI)1096-8628(20000403)96:2154::AID-AJMG53.0.CO;2-F; Ohata T, 1998, HUM GENET, V103, P470, DOI 10.1007-s004390050852; POLYMEROPOULOS MH, 1994, NAT GENET, V8, P95, DOI 10.1038-ng0994-95; ROCCHINI AP, 1995, MOSS ADAMS HEART DIS, P43; Sam W, 2001, CLIN GENET, V59, P136, DOI 10.1034-j.1399-0004.2001.590214.x; Seshiah V, 1987, J Assoc Physicians India, V35, P528; SOLIMAN AT, 1995, ARCH DIS CHILD, V73, P251; Swift M, 2000, BIOL PSYCHIAT, V47, P787, DOI 10.1016-S0006-3223(00)00244-4; SWIFT RG, 1990, LANCET, V336, P667, DOI 10.1016-0140-6736(90)92157-D; Swift RG, 1998, MOL PSYCHIATR, V3, P86, DOI 10.1038-sj.mp.4000344; Takeda K, 2001, HUM MOL GENET, V10, P477, DOI 10.1093-hmg-10.5.477; Tanizawa Y, 2000, Rinsho Byori, V48, P941; Tekgul S, 1999, J UROLOGY, V161, P616, DOI 10.1016-S0022-5347(01)61982-7; Tessa A, 2001, Hum Mutat, V17, P348, DOI 10.1002-humu.32; Torres R, 2001, MOL PSYCHIATR, V6, P39, DOI 10.1038-sj.mp.4000787; Wolfram D. J., 1938, MAYO CLIN P, V13, P71557565
Molecular and biochemical characterization of Jak-3 deficiency in a patient with severe combined immunodeficiency over twenty years after bone marrow transplantation. Implications for treatment.
No full textSevere combined immunodeficiency (SCID) comprises a heterogenous group of disorders that are fatal unless treated by bone marrow transplantation (BMT). The most common form of SCID (T-B+ SCID) is due to mutations of either the common gamma chain (γc) or of γc coupled JAK3 kinase. We report an unusual JAK3 defect in a female who was successfully treated > 20 years ago with a BMT using her HLA-identical father as the donor. Persistence of genetically and biochemically defective autologous B cells, associated with reconstitution of cellular and humoral immunity, suggests that integrity of the γc-JAK3 signalling pathway is not strictly required for immunoglobulin production
A comparison of the sensitivity of European and African/Australian strains of of Mycoplasma mycoides subsp. mycoides SC to growth inhibiting antisera in vitro
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Haplotype diversity and linkage disequilibrium at human G 6 PD recent origin of alleles that confer malarial resistance
No full textThe frequencies of Low-activity alleles of glucose-6-phosphate dehydrogenase in humans are highly correlated with the prevalence of malaria. These "deficiency" alleles are thought to provide reduced risk from infection by the Plasmodium parasite and are maintained at high frequency despite the hemopathologies that they cause. Haplotype analysis of "A-" and "Med" mutations at this Locus indicates that they have evolved independently and have increased in frequency at a rate that is too rapid to be explained by random genetic drift. Statistical modeling indicates that the A- allele arose within the past 3840 to 11,760 years and the Med allele arose within the past 1600 to 6640 years. These results support the hypothesis that malaria has had a major impact on humans only since the introduction of agriculture within the past 10,000 years and provide a striking example of the signature of selection on the human genome
A Workstation For Ers-1 / J-ers-1 / Multifrequency Polarimetric Sar Calibration And Validation
No full textTracking and orbit determination performance of the GRAS instrument on MetOp-A
No full textThe global navigation satellite system receiver for atmospheric sounding (GRAS) on MetOp-A is the first European GPS receiver providing dual-frequency navigation and occultation measurements from a spaceborne platform on a routine basis. The receiver is based on ESA’s AGGA-2 correlator chip, which implements a high-quality tracking scheme for semi-codeless P(Y) code tracking on the L1 and L2 frequency. Data collected with the zenith antenna on MetOp-A have been used to perform an in-flight characterization of the GRAS instrument with focus on the tracking and navigation performance. Besides an assessment of the receiver noise and systematic measurement errors, the study addresses the precise orbit determination accuracy achievable with the GRAS receiver. A consistency on the 5 cm level is demonstrated for reduced dynamics orbit solutions computed independently by four different agencies and software packages. With purely kinematic solutions, 10 cm accuracy is obtained. As a part of the analysis, an empirical antenna offset correction and preliminary phase center correction map are derived, which notably reduce the carrier phase residuals and improve the consistency of kinematic orbit determination results.Delft Institute of earth Observation and Space SystemsAerospace Engineerin
High intensity neutrino oscillation facilities in Europe
No full textThe EUROnu project has studied three possible options for future, high intensity neutrino oscillation facilities in Europe. The first is a Super Beam, in which the neutrinos come from the decay of pions created by bombarding targets with a 4 MW proton beam from the CERN High Power Superconducting Proton Linac. The far detector for this facility is the 500 kt MEMPHYS water Cherenkov, located in the Fréjus tunnel. The second facility is the Neutrino Factory, in which the neutrinos come from the decay of μ+ and μ- beams in a storage ring. The far detector in this case is a 100 kt magnetized iron neutrino detector at a baseline of 2000 km. The third option is a Beta Beam, in which the neutrinos come from the decay of beta emitting isotopes, in particular 6He and 18Ne, also stored in a ring. The far detector is also the MEMPHYS detector in the Fréjus tunnel. EUROnu has undertaken conceptual designs of these facilities and studied the performance of the detectors. Based on this, it has determined the physics reach of each facility, in particular for the measurement of CP violation in the lepton sector, and estimated the cost of construction. These have demonstrated that the best facility to build is the Neutrino Factory. However, if a powerful proton driver is constructed for another purpose or if the MEMPHYS detector is built for astroparticle physics, the Super Beam also becomes very attractive
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