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Major Defects (major + defect)
Selected Abstracts,, T-cell anergy in human immunodeficiency virus-infected persons with opportunistic infections and recovery after highly active antiretroviral therapyIMMUNOLOGY, Issue 4 2000F. Martini Summary ,, T lymphocytes recognize non-peptidic microbial antigens without antigen processing and major histocompatibility complex (MHC) restriction, representing an early defence mechanism against invading pathogens. As a defective response to non-peptidic antigens was observed in human immunodeficiency virus-positive (HIV+) persons, the aims of this study were twofold: to analyse the incidence of ,, T-cell anergy in HIV+ patients with opportunistic infections/co-infections (HIV-OIC), and to investigate the role of highly active antiretroviral therapy (HAART) on ,, T-cell functions. Peripheral ,, T-cell distribution and in vitro reactivity to a non-peptidic mycobacterial antigen, isopentenyl pyrophosphate (IPP), were analysed. ,, T-cell subset distribution was altered more in HIV-OIC patients than in asymptomatic HIV+ subjects (HIV-ASY). Specifically, the V,2/V,1 ratio was inverted as a consequence of a decrease in V,2 T-cell number. Moreover, IPP-stimulated V,2 T cells from the HIV-OIC group displayed a major defect in interferon-, (IFN-,) production. Interestingly, HAART induced a sustained recovery of naive CD45RA+ and CD62L+ T cells and restored ,, T-cell function. Accordingly, in vitro CD45RA depletion resulted in ,, T-cell hyporesponsiveness. Altogether, the incidence of ,, T-cell anergy was increased in HIV-OIC patients and dependent on CD45RA helper function. Moreover, HAART was able to restore ,, T-cell reactivity, extending the immune recovery to non-peptidic microbial antigens. [source] Systemic inactivation of Hs6st1 in mice is associated with late postnatal mortality without major defects in organogenesisGENESIS: THE JOURNAL OF GENETICS AND DEVELOPMENT, Issue 10 2008Konstantin I. Izvolsky No abstract is available for this article. [source] Li-Deficient, Off-Congruent MgO:LiNbO3 Crystals Prepared by Postgrown Li-Poor Vapor Transport Equilibration for Integrated OpticsJOURNAL OF THE AMERICAN CERAMIC SOCIETY, Issue 7 2010De-Long Zhang Li-deficient, off-congruent Z -cut MgO:LiNbO3 (MgO:LN) crystals for integrated optics were prepared by carrying out postgrown Li-poor vapor transport equilibration (VTE) treatments on congruently grown MgO (5 mol% in melt):LiNbO3 plates at 1100°C for durations ranging from 40 to 395 h. Secondary ion mass spectrometry analysis, surface ordinary refractive index measurement, and neutron activation analysis were carried out on the VTE crystals to verify that the Mg and Nb ions did not diffuse out of the crystal during the VTE procedure and their distributions over the whole plate retain its homogeneity. The VTE duration dependence of the Li2O content reduction was determined using gravimetric method, and the crystalline phase was by powder X-ray diffraction. The results show that the Li2O content decreases with a prolonged VTE and the Li2O content reduction in the saturation regime is about 2.9 mol%. All of the VTE crystals still retain the LN phase, and Li-vacancy and NbLi are the major defects in the VTE crystal. OH absorption study reveals that the doped MgO concentration is below the photorefractive threshold for all VTE crystals. The optical absorption edge (OAE) of the VTE-treated MgO:LN was also measured as a function of the VTE duration. On the basis of the known Li2O content and measured OAE, the photon-energy fit reported previously, valid for the evaluation of Li2O content in a pure LN, is corrected for the Li-poor VTE-treated MgO:LNs. Finally, the applicability of the Li-deficient off-congruent MgO:LN crystals prepared by the Li-poor VTE method is demonstrated by characterizing the optical damage and Er diffusion properties of a single-mode Ti:MgO:Er:LiNbO3 strip waveguide fabricated on an Li-poor VTE-prepared MgO:LN crystal. [source] Cutaneous Markers of Primary Immunodeficiency Diseases in ChildrenPEDIATRIC DERMATOLOGY, Issue 2 2000Angelica Berron-Ruiz M.D. We studied PIDs in a large pediatric hospital, their association with cutaneous alterations, and the importance of cutaneous alterations as diagnostic markers. Among 382,383 pediatric patients, 130 (0.0003%) had a PID: humoral in 27, cellular and combined in 18, phagocytic in 37, and associated with major defects in 45. An average of two cutaneous alterations were present in 90 (69%) patients: infections in 80, eczema-dermatitis in 38, and miscellaneous in 57. In 71 (79%) patients the cutaneous alterations preceded and were the basis for the clinical immunologic diagnosis. Only two PIDs were not associated with cutaneous lesions. [source] Detection of fetal structural abnormalities at the 11,14 week ultrasound scanPRENATAL DIAGNOSIS, Issue 1 2002M. H. B. Carvalho Abstract The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11,14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11,14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11,14 week scan. Fetal structural abnormalities at the 11,14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd. [source] Role of the cytoplasmic domain of the L1 cell adhesion molecule in brain developmentTHE JOURNAL OF COMPARATIVE NEUROLOGY, Issue 7 2010Yukiko Nakamura Abstract Mutations in the human L1CAM gene cause X-linked hydrocephalus and MASA (Mental retardation, Aphasia, Shuffling gait, Adducted thumbs) syndrome. In vitro studies have shown that the L1 cytoplasmic domain (L1CD) is involved in L1 trafficking, neurite branching, signaling, and interactions with the cytoskeleton. L1cam knockout (L1KO) mice have hydrocephalus, a small cerebellum, hyperfasciculation of corticothalamic tracts, and abnormal peripheral nerves. To explore the function of the L1CD, we made three new mice lines in which different parts of the L1CD have been altered. In all mutant lines L1 protein is expressed and transported into the axon. Interestingly, these new L1CD mutant lines display normal brain morphology. However, the expression of L1 protein in the adult is dramatically reduced in the two L1CD mutant lines that lack the ankyrin-binding region and they show defects in motor function. Therefore, the L1CD is not responsible for the major defects observed in L1KO mice, yet it is required for continued L1 protein expression and motor function in the adult. J. Comp. Neurol. 518:1113,1132, 2010. © 2009 Wiley-Liss, Inc. [source] Sex differences in the prevalence of human birth defects: A population-based study,BIRTH DEFECTS RESEARCH, Issue 5 2001Joseph M. Lary Background Sex differences in the prevalence of several human birth defects have often been reported in the literature, but the extent of sex differences for most birth defects is unknown. To determine the full extent of sex differences in birth defects in a population, we examined population-based data from the Metropolitan Atlanta Congenital Defects Program (MACDP). Methods MACDP records were analyzed for 1968 through 1995. We determined the sex-specific prevalence of all major birth defects, using the total number of live births by sex during these years as the denominator. For each specific defect, we calculated a relative risk with regard to sex on the basis of the ratio of prevalence among males to prevalence among females. Male,female relative risks were also determined for total major birth defects and for several broad categories of defects. Results The overall prevalence of major defects at birth was 3.9% among males and 2.8% among females. All but two of the major categories of birth defects (nervous system defects and endocrine system defects) had a higher prevalence among males. Defects of the sex organs were eight and one-half times more prevalent among males and accounted for about half of the increased risk of birth defects among males relative to females. Urinary tract defects were 62% more prevalent among males, and gastrointestinal tract defects were 55% more prevalent among males. Among specific defect types, twofold or greater differences in prevalence by sex were common. Conclusions Our data indicate that sex differences in the prevalence of specific human birth defects are common, and male infants are at greater risk for birth defects than female infants. Several mechanisms have been proposed to account for these differences. Teratology 64:237,251, 2001. Published 2001 Wiley-Liss, Inc. [source] | |||||||||||||