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41.
Diego A. Gomez Philip A. May Barbara G. Tabachnick Julie M. Hasken Elizabeth R. Lyden Wendy O. Kalberg H. Eugene Hoyme Melanie A. Manning Margaret P. Adam Luther K. Robinson Kenneth Lyons Jones David Buckley Omar A. Abdul‐Rahman 《American journal of medical genetics. Part A》2020,182(10):2243-2252
Fetal alcohol spectrum disorders (FASD) describe a range of physical, behavioral, and neurologic deficits in individuals exposed to alcohol prenatally. Reduced palpebral fissure length is one of the cardinal facial features of FASD. However, other ocular measurements have not been studied extensively in FASD. Using the Fetal Alcohol Syndrome Epidemiologic Research (FASER) database, we investigated how inner canthal distance (ICD), interpupillary distance (IPD), and outer canthal distance (OCD) centiles differed between FASD and non‐FASD individuals. We compared ocular measurement centiles in children with FASD to non‐FASD individuals and observed reductions in all three centiles for ICD, IPD, and OCD. However, when our non‐FASD children who had various forms of growth deficiency (microcephaly, short‐stature, or underweight) were compared to controls, we did not observe a similar reduction in ocular measurements. This suggests that reductions in ocular measurements are a direct effect of alcohol on ocular development independent of its effect on growth parameters, which is consistent with animal models showing a negative effect of alcohol on developing neural crest cells. Interpupillary distance centile appeared to be the most significantly reduced ocular measure we evaluated, suggesting it may be a useful measure to be considered in the diagnosis of FASD. 相似文献
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Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP) 总被引:8,自引:0,他引:8
Rowe PS; Oudet CL; Francis F; Sinding C; Pannetier S; Econs MJ; Strom TM; Meitinger T; Garabedian M; David A; Macher MA; Questiaux E; Popowska E; Pronicka E; Read AP; Mokrzycki A; Glorieux FH; Drezner MK; Hanauer A; Lehrach H; Goulding JN; O'Riordan JL 《Human molecular genetics》1997,6(4):539-549
Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with
homologies to endopeptidases, on the X-chromosome), are responsible for
X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family
of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has
raised important questions regarding PEX function at the molecular level.
The aim of this study was to analyse 99 HYP families for PEX gene
mutations, and to correlate predicted changes in the protein structure with
Zn2+ metallopeptidase gene function. Primers flanking 22 characterised
exons were used to amplify DNA by PCR, and SSCP was then used to screen for
mutations. Deletions, insertions, nonsense mutations, stop codons and
splice mutations occurred in 83% of families screened for in all 22 exons,
and 51% of a separate set of families screened in 17 PEX gene exons.
Missense mutations in four regions of the gene were informative regarding
function, with one mutation in the Zn2+-binding site predicted to alter
substrate enzyme interaction and catalysis. Computer analysis of the
remaining mutations predicted changes in secondary structure,
N-glycosylation, protein phosphorylation and catalytic site molecular
structure. The wide range of mutations that align with regions required for
protease activity in NEP suggests that PEX also functions as a protease,
and may act by processing factor(s) involved in bone mineral metabolism.
相似文献
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Thomas M Morgan Lan Xiao Patrick Lyons Bethany Kassebaum Harlan M Krumholz John A Spertus 《BMC medical genetics》2008,9(1):66
Background
Many candidate genes have been reported to be risk factors for acute coronary syndrome (ACS), but their impact on clinical prognosis following ACS is unknown. 相似文献47.
Huyse FJ de Jonge P Slaets JP Herzog T Lobo A Lyons JS Opmeer BC Stein B Arolt V Balogh N Cardoso G Fink P Rigatelli M 《Psychosomatics》2001,42(3):222-228
The authors developed a screening instrument to detect patients in need of complex care coordination at admission to a general hospital. On the basis of a series of risk factors for care complexity, the authors constructed a short, care complexity prediction instrument (COMPRI) and assessed its qualities. The COMPRI is an easily administered screening instrument that detects patients at risk for complex care needs for whom care coordination is indicated. COMPRI's predictive power exceeds all currently available case-mix instruments. 相似文献
48.
Murine model of pulmonary anthrax: kinetics of dissemination, histopathology, and mouse strain susceptibility 下载免费PDF全文
Lyons CR Lovchik J Hutt J Lipscomb MF Wang E Heninger S Berliba L Garrison K 《Infection and immunity》2004,72(8):4801-4809
Bioweapons are most often designed for delivery to the lung, although this route is not the usual portal of entry for many of the pathogens in the natural environment. Vaccines and therapeutics that are efficacious for natural routes of infection may not be effective against the pulmonary route. Pulmonary models are needed to investigate the importance of specific bacterial genes in virulence, to identify components of the host immune system that are important in providing innate and acquired protection, and for testing diagnostic and therapeutic strategies. This report describes the characteristics of host and Bacillus anthracis interactions in a murine pulmonary-infection model. The infective dose varied depending on the route and method of inoculation. The germination process in the lung began within 1 h of inoculation into the lung, although growth within the lung was limited. B. anthracis was found in the lung-associated lymph nodes approximately 5 h after infection. Minimal pneumonitis was associated with the lung infection, but significant systemic pathology was noted after dissemination. Infected mice typically succumbed to infection approximately 3 to 4 days after inoculation. The 50% lethal doses differed among inbred strains of mice, but within a given mouse strain, neither the age nor the sex of the mice influenced susceptibility to B. anthracis. 相似文献
49.
Asthma medication use in pregnancy and fetal growth 总被引:3,自引:0,他引:3
Bakhireva LN Jones KL Schatz M Johnson D Chambers CD;Organization Of Teratology Information Services Research Group 《The Journal of allergy and clinical immunology》2005,116(3):503-509
BACKGROUND: Given the high prevalence of asthma in pregnancy, it is important to understand the relationship between asthma medications and fetal growth in the context of appropriate treatment. OBJECTIVE: This study examines the effect of inhaled corticosteroids, systemic corticosteroids, and beta(2)-agonists on fetal growth in 654 infants born to women with asthma compared with 303 infants born to controls without asthma. METHODS: Subjects for this prospective study were enrolled throughout North America between 1998 and 2003 and followed up by the Organization of Teratology Information Services. Incidence of small for gestational age (SGA) infants and mean birth size measures were compared among groups. RESULTS: Mean birth weight of full-term infants born to mothers who used systemic corticosteroids (3373 g) was lower than in the beta(2)-agonist group (3552 g) and controls without asthma (3540 g; P < .05) after adjustment for other risk factors. However, no differences in the incidence of SGA for weight were observed among groups. Adjusted mean birth length was slightly shorter in the systemic steroid group compared with controls (P=.02). Incidence of SGA for length and head circumference and mean head circumference did not vary among groups (P>.05). CONCLUSION: The treatment of asthma with systemic corticosteroids resulted in a deficit of about 200 g in birth weight compared with controls and exclusive beta(2)-agonist users and no increased incidence of SGA. These results suggest that asthma management with beta(2)-agonists and/or inhaled corticosteroids during pregnancy does not impair fetal growth, whereas systemic corticosteroids have a minimal effect which should be weighed against the necessity to control severe asthma. 相似文献
50.
This 1990 study examines the relationship between the degree of use of patient care resources and the degree of supervision of residents by attending physicians (as perceived by residents) at a large midwestern teaching hospital. Ratings of the degree of clinical autonomy allowed residents by 65 attending physicians--each of whom had a general internal medicine practice with a significant hospital component--were provided by 23 former internal medicine chief residents and 17 internal medicine residents who were in their third year at the time of the study. A regression model was used to test the association between hospital resource use (as shown by total hospital charges to patients and their lengths of stay) and the residents' mean ratings of the degrees of autonomy the attending physicians permitted residents, for 7,169 of these physicians' patients discharged between 1986 and 1989 in 28 diagnosis-related groups. The analysis was controlled for patients' insurance status and chronic disease comorbidities. The patients whose attending physicians were rated as allowing substantial clinical autonomy had significantly lower total charges and lengths of stay (p less than .0001). These results suggest that internal medicine residents have an inherently conservative practice style that values low-intensity workups and rapid discharge of patients. 相似文献