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61.
The genetic defect in the p67phox-deficient form of chronic granulomatous disease (CGD) follows an autosomal recessive pattern of inheritance. When genomic DNA from normal individuals is digested with HindIII and probed with p67phox cDNA an allelic restriction fragment length polymorphism (RFLP) of 4.0 kb or 2.3 kb is detected. We cloned and characterized the p67phox gene using the cDNA and sequenced the exon/intron boundaries, mapping 16 exons on the 40-kb gene. The polymorphic region was then sequenced to identify the inheritance pattern of amniocentesis-derived fetal cells by genomic amplification. The proband, a 9-year-old female patient with p67phox-deficient CGD, and her phenotypically normal mother are homozygous for the RFLP marker, whereas the father and two brothers are heterozygous. The fetus was shown to be heterozygous as well, showing it had inherited at least one normal p67phox gene from the father and that it was predicted to have a normal phenotype. Cord blood samples at birth showed normal oxidative function. Amplification allows rapid detection of the inheritance pattern for fetal diagnosis in informative families. We report the genomic structure of p67phox and an amplification-based method for detection of the marker on chromosome 1q25, used here for prenatal diagnosis of CGD. 相似文献
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63.
Langerhans cell histiocytosis of bone. 总被引:13,自引:0,他引:13
Langerhans cell histiocytosis (LCH), previously called histiocytosis X, refers to a spectrum of disease characterized by idiopathic proliferation of histiocytes producing focal or systemic manifestations. Causes and pathogenesis remain unclear. However, recent studies suggest abnormal immune regulation as an important factor. The three classic syndromes may have considerable clinical overlap: eosinophilic granuloma, in which the disease is limited to bone in patients usually 5-15 years old; Hand-Schüller-Christian disease, characterized by multifocal bone lesions and extraskeletal involvement of the reticuloendothelial system (RES) usually seen in children 1-5 years old; and Letterer-Siwe disease, in which there is disseminated involvement of the RES with a fulminant clinical course in children less than 2 years old. Osseous involvement is typically in the flat bones, with lesions of the skull, pelvis, and ribs accounting for more than half of all lesions. About 30% of lesions are in long bones. Radiographic appearance of osseous LCH depends on site of involvement and phase of the disease. Early lesions appear aggressive with poorly defined margins and lamellated periosteal reaction. Late lesions appear well defined and may show sclerotic margins and expanded remodeled appearance. 相似文献
64.
65.
In vitro activities and targets of three cephem antibiotics against Haemophilus influenzae. 总被引:2,自引:4,他引:2
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P M Mendelman L L Henritzy D O Chaffin K Lent A L Smith T L Stull E A Wiley 《Antimicrobial agents and chemotherapy》1989,33(11):1878-1882
The antimicrobial activities of cefixime, cefpodoxime, and ceftibuten were determined with 18 ampicillin-susceptible (Amps), 13 ampicillin-resistant beta-lactamase-producing (AmprBLP), and 7 ampicillin-resistant non-beta-lactamase-producing (AmprNBLP) strains of Haemophilus influenzae. An effect of inoculum density on apparent MIC, the bactericidal activity of these agents, and the targets of the three cephems were determined. The MICs of cefixime, cefpodoxime, and ceftibuten for 90% of the Amps and AmprBLP isolates were 0.04, 0.08, and 0.08 microgram/ml, respectively. In contrast, the MICs for 90% of the AmprNBLP strains were 0.96, 1.92, and 7.68 micrograms/ml. No significant inoculum effect was observed for any group of strains comparing inocula of 10(3) and 10(5) CFU, whereas only the AmprNBLP isolates showed a marked effect at an inoculum of 10(6) CFU. Although bactericidal levels were achieved for the Amps and AmprBLP strains, tolerance to cefixime and ceftibuten was observed. The bactericidal activity for the AmprNBLP strains was limited, with cefixime showing the highest activity of the three cephems. Penicillin-binding proteins 2, 4, and 5 revealed high affinity, with 50% inhibitory concentration levels below the MIC for all three cephems, suggesting that these are important targets of these agents in H. influenzae. We conclude that the cephems are highly active in vitro against Amps and AmprBLP strains of H. influenzae, but less so against AmprNBLP isolates. 相似文献
66.
Plasma dihydroxyphenylalanine and total body and regional noradrenergic activity in humans 总被引:4,自引:0,他引:4
G Eisenhofer J E Brush R O Cannon R Stull I J Kopin D S Goldstein 《The Journal of clinical endocrinology and metabolism》1989,68(2):247-255
Dihydroxyphenylalanine (DOPA) is the immediate product of the rate-limiting step in catecholamine biosynthesis, hydroxylation of tyrosine. This study examined whether plasma concentrations of DOPA are related to tyrosine hydroxylase activity. Plasma concentrations of DOPA, norepinephrine, and the norepinephrine metabolites 3,4-dihydroxyphenylglycol (DHPG) and 3-methoxy-4-hydroxyphenylglycol (MHPG) were measured in arterial blood and blood draining the heart, brain, and forearm of 21 patients undergoing cardiac catheterization. Rates of entry of norepinephrine into arterial plasma and plasma draining the heart were estimated using infusions of radioactive norepinephrine. Arterial plasma DOPA correlated positively with arterial plasma DHPG (r = 0.63), MHPG (r = 0.47), norepinephrine (r = 0.67), and the rate of entry of norepinephrine into arterial plasma (r = 0.62). There were significant arteriovenous increments in plasma DOPA: 28% across the heart, 18% across the brain, and 32% across the forearm. Arteriovenous increments in plasma DOPA across the brain correlated positively with increments in plasma DHPG (r = 0.83), but not with increments in norepinephrine or MHPG. In the arm, where MHPG was the major metabolite, arteriovenous increments in DOPA correlated positively with increments in MHPG (r = 0.52) and with the combined increments in MHPG, DHPG, and norepinephrine (r = 0.60). In the heart, where DHPG was the major metabolite, arteriovenous increments in DOPA correlated positively with increments in DHPG (r = 0.72) and the combined increments in DHPG, MHPG, and norepinephrine (r = 0.62). The rate at which norepinephrine entered the great cardiac venous plasma from tissues of the heart correlated positively with the rate at which DOPA overflowed from the heart into the systemic circulation (r = 0.56). The relationships between plasma DOPA and norepinephrine metabolism and the rates of norepinephrine entry into plasma support the view that plasma DOPA reflects tyrosine hydroxylase activity. 相似文献
67.
Pharmacokinetics of midazolam in Vietnamese subjects 总被引:2,自引:0,他引:2
KR BALSON DJ MORGAN BH RICHMOND ME McALINDON SL ELLIOTT ND YEOMANS 《Journal of gastroenterology and hepatology》1996,11(10):1177-1180
68.
69.
Household knowledge, attitudes and practices related to pet contact and associated zoonoses in Ontario, Canada 总被引:3,自引:0,他引:3
ABSTRACT: BACKGROUND: Many human infections are transmitted through contact with animals (zoonoses), including household pets. Although pet ownership is common in most countries and non-pet owners may have frequent contact with pets, there is limited knowledge of the public's pet contact practices and awareness of zoonotic disease risks from pets. The objective of this study was to characterize the general public's knowledge, attitudes and risks related to pet ownership and animal contact in southern Ontario, Canada. METHODS: A self-administered questionnaire was distributed to individuals at two multi-physician clinics in Waterloo, Ontario, Canada during 2010. A single adult from each household was invited to participate in the study. RESULTS: Seventy five percent (641/853) of individuals approached completed the questionnaire. Pet ownership and contact were common; 64% of participants had a pet in their household and 37% of non-pet owning households had a member with at least weekly animal contact outside the home. Pet ownership was high (55%) for households with individuals at higher risk for infections (i.e., < 5 yrs, > 64 yrs, immunocompromised). Most respondents (64%) indicated that they had never received information regarding pet-associated disease risks. When given a list of 11 infectious pathogens, respondents were only able to correctly classify just over half on their potential to be transmitted from pets to people (mean 6.4); independently, pet owners and those who recalled receiving information in the past about this topic were able to make significantly more correct identifications. Pet (36%) and non-pet owning households (10%) reported dog or cat bites or scratches during the preceding year. Households with individuals at higher risk for an infection did not differ from the remaining households regarding their perceived disease risk of pets, zoonotic disease knowledge, recall of being asked by their medical provider if they owned any pets, or recall of having received information regarding pet-associated disease risks and preventive measures. CONCLUSIONS: These results suggest that there is a need for accessible zoonotic disease information for both pet and non-owning households, with additional efforts made by veterinary, human and public health personnel. Immediate educational efforts directed toward households with individuals at higher risk to infections are especially needed. 相似文献
70.
The efficacy of the Sydney ambulance paramedic service in dealing with out-of-hospital cardiac and other emergencies was examined. The outcome of 182 cases (from a total of 1,799 casualty calls) treated by a paramedic service was compared with the outcome of 104 similar cases (from a total of 2,376 calls) treated by a general duties service. There were 33 cases of cardiac arrest in the general duties group; resuscitation was attempted in 12 and none survived. There were 49 cases of cardiac arrest in the paramedic group; resuscitation was attempted in 21 cases and 4 survived. There were 35 cases of suspected myocardial infarction in the general duties group; 7 died compared with 58 cases and 4 deaths, in the paramedic group (mortality 20%, cf. 7%; difference not significant). The increased cost of a paramedic call, less than half of an entire hospital day, appears justified by better results. 相似文献