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41.
Genetic counseling is a process that emphasizes accurate diagnosis of hereditary conditions and communication of information to families. Genetic counseling involves systematic collection of family and medical history, a physical examination by a certified clinical geneticist, sharing of information with the family, and follow-up and support services. The issues that arise in genetic counseling can differ for every family and are often dependent on the degree of deafness present in the family, age of onset, and linguistic and cultural orientation. It is important for the genetic counselor to consider these factors in the provision of genetic services. With the increasing application of molecular genetics to the diagnosis and management of hereditary deafness and the increasing participation of families with deafness in research studies, the involvement of genetic counselors to provide information and education to consumers as well as medical professionals and researchers is becoming even more critical. The success of genetic counseling for the provision of information to families and the delineation of types of hereditary deafness through clinical and laboratory research is dependent on appropriate referrals by medical professionals, including otolaryngologists. A working relationship between otolaryngologists and clinical geneticists for the referral and evaluation of patients with hereditary deafness or deafness of "unknown" etiology is important. 相似文献
42.
A set of symptoms has been described during the past two decades that has been called the "sick building syndrome." These symptoms include eye, nose, and throat irritation; headache; mental fatigue; and respiratory distress. It is likely that the volatile organic compounds (VOCs) present in synthetic materials used in homes and office buildings contribute to these symptoms. However, there have been very few studies in which humans have been exposed to known amounts of VOCs under carefully controlled conditions. In this study, 14 subjects were exposed to a mixture of VOCs (25 mg/m3 total hydrocarbon) that is representative of what is found in new homes and office buildings. Because irritations of the nose and throat are symptoms often associated with the upper respiratory tract and may result from an inflammatory response in the upper airways, we used nasal lavage to monitor neutrophil (PMN) influx into the nasal passages following exposure to VOCs. There were statistically significant increases in PMNs, both immediately after a 4-h exposure to VOCs and 18 h later. 相似文献
43.
A research assistant in the Office of the General Counsel of the American Medical Association responds to a question which suggests that physicians are ethically and legally required to use only ordinary, but not extraordinary, means to prolong life. She responds in the negative, explaining briefly the varying connotations which "extraordinary" treatment has in ethics, medicine, and law. 相似文献
44.
Walsh BT Agras WS Devlin MJ Fairburn CG Wilson GT Kahn C Chally MK 《The American journal of psychiatry》2000,157(8):1332-1334
OBJECTIVE: This was an investigation of whether treatment with fluoxetine is useful for individuals with bulimia nervosa who do not respond to psychotherapy or relapse afterward. METHOD: Twenty-two patients with bulimia nervosa who had not responded to, or had relapsed following, a course of cognitive behavior therapy or interpersonal psychotherapy were randomly assigned to receive placebo (N=9) or fluoxetine (60 mg/day, N=13) for 8 weeks. RESULTS: The median frequency of binge eating in the previous 28 days declined from 22 to four episodes in the fluoxetine group but increased from 15 to 18 episodes in the placebo group. Similarly, purging frequency in the previous 28 days declined from 30 to six episodes in the fluoxetine group but increased from 15 to 38 episodes in the placebo group. CONCLUSIONS: Fluoxetine may be a useful intervention for patients with bulimia nervosa who have not responded adequately to psychological treatment. 相似文献
45.
46.
Hans Gelderblom Ramon Salazar Jaap Verweij George Pentheroudakis Maja J A de Jonge Martin Devlin Christel van Hooije Francis Seguy Rosendo Obach Joan Pru?onosa Paola Principe Chris Twelves 《Clinical cancer research》2003,9(11):4101-4107
PURPOSE: Diflomotecan (BN80915) is an E-ring modified camptothecin analogue that possesses greater lactone stability in plasma compared with other topoisomerase I inhibitors, a potential advantage for antitumor activity. As with other camptothecins, oral administration has pharmacological and clinical advantages. This Phase I study was performed to assess the feasibility of the administration of oral diflomotecan, to determine the maximum-tolerated, dose its bioavailability, and to explore the pharmacokinetics. EXPERIMENTAL DESIGN: An initial i.v. bolus was administered to assess the bioavailability of diflomotecan. Fourteen days later, diflomotecan was administered p.o. once daily for 5 days to adult patients with solid malignant tumors and repeated every 3 weeks. BN80915 and its open lactone form BN80942 were measured. RESULTS: Twenty-two patients entered the study and received a total of 57 cycles of oral diflomotecan at flat dose levels of 0.10, 0.20, 0.27, and 0.35 mg. The main toxicity was hematological, but some patients experienced alopecia, mild gastrointestinal toxicity, and fatigue. At the 0.35-mg dose level, 2 of 4 patients experienced dose-limiting toxicity comprising grade 3 thrombocytopenia with epistaxis and febrile neutropenia in 1 patient and uncomplicated grade 4 neutropenia lasting for >7 days in another. Toxicity was acceptable at the 0.27-mg dose level at which dose-limiting toxicities were observed in 3 of 12 patients (grade 4 neutropenia > 7 days, complicated by fever in 1 patient but without other signs of infection). After two cycles of diflomotecan, 6 patients had disease stabilization, which was maintained in 2 patients for 9 months and >1 year, respectively. Diflomotecan pharmacokinetics were linear over the dose range studied. Systemic exposure correlated with the fall in WBC counts. The mean oral bioavailability (+/-SD) was 72.24 +/- 59.2% across all dose levels. Urinary excretion of BN80915 was very low. CONCLUSIONS: The recommended oral diflomotecan dose for Phase II studies is 0.27 mg/day x 5 every 3 weeks. This regimen is convenient and generally well tolerated with a favorable pharmacokinetic profile and high but variable bioavailability. 相似文献
47.
Impact of education for physicians on patient outcomes 总被引:4,自引:0,他引:4
NM Clark M Gong MA Schork D Evans D Roloff M Hurwitz L Maiman RB Mellins 《Pediatrics》1998,101(5):831-836
48.
Hemoglobin and albumin adducts of benzene oxide among workers exposed to high levels of benzene 总被引:3,自引:0,他引:3
Yeowell-O'Connell K; Rothman N; Smith MT; Hayes RB; Li G; Waidyanatha S; Dosemeci M; Zhang L; Yin S; Titenko-Holland N; Rappaport SM 《Carcinogenesis》1998,19(9):1565-1571
Benzene oxide (BO) reacts with cysteinyl residues in hemoglobin (Hb) and
albumin (Alb) to form protein adducts (BO-Hb and BO-Alb), which are
presumed to be specific biomarkers of exposure to benzene. We analyzed
BO-Hb in 43 exposed workers and 42 unexposed controls, and BO-Alb in a
subsample consisting of 19 workers and 19 controls from Shanghai, China, as
part of a larger cross-sectional study of benzene biomarkers. The adducts
were analyzed by gas chromatography-mass spectrometry following reaction of
the protein with trifluoroacetic anhydride and methanesulfonic acid. When
subjects were divided into controls (n = 42) and workers exposed to < or
=31 (n = 21) and >31 p.p.m. (n = 22) benzene, median BO-Hb levels were
32.0, 46.7 and 129 pmol/g globin, respectively (correlation with exposure:
Spearman r = 0.67, P < 0.0001). To our knowledge, these results
represent the first observation in humans that BO-Hb levels are
significantly correlated with benzene exposure. Median BO-Alb levels in
these 3 groups were 103 (n = 19), 351 (n = 7) and 2010 (n = 12) pmol/g Alb,
respectively, also reflecting a significant correlation with exposure
(Spearman r = 0.90, P < 0.0001). The blood dose of BO predicted from
both Hb and Alb adducts was very similar. These results clearly affirm the
use of both Hb and Alb adducts of BO as biomarkers of exposure to high
levels of benzene. As part of our investigation of the background levels of
BO-Hb and BO-Alb found in unexposed persons, we analyzed recombinant human
Hb and Alb for BO adducts. Significant levels of both BO-Hb (19.7 pmol/g)
and BO-Alb (41.9 pmol/g) were detected, suggesting that portions of the
observed background adducts reflect an artifact of the assay, while other
portions are indicative of either unknown exposures or endogenous
production of adducts.
相似文献
49.
Increased aneusomy and long arm deletion of chromosomes 5 and 7 in the lymphocytes of Chinese workers exposed to benzene 总被引:4,自引:1,他引:4
Zhang L; Rothman N; Wang Y; Hayes RB; Li G; Dosemeci M; Yin S; Kolachana P; Titenko-Holland N; Smith MT 《Carcinogenesis》1998,19(11):1955-1961
Two of the most common cytogenetic changes in therapy- and chemical-
related leukemia are the loss and long (q) arm deletion of chromosomes 5
and 7. The detection of these aberrations in lymphocytes of individuals
exposed to potential leukemogens may serve as useful biomarkers of
increased leukemia risk. We have used a novel fluorescence in situ
hybridization (FISH) procedure to determine if specific aberrations in
chromosomes 1, 5 and 7 occur at an elevated rate in the blood cells of
workers exposed to benzene. Forty-three healthy workers exposed to a wide
range of benzene concentrations (median 31 p.p.m., 8 h time-weighted
average) and 44 unexposed controls from Shanghai were studied. Whole blood
was cultured and metaphase spreads were harvested at 72 h. Benzene exposure
was associated with increases in the rates of monosomy 5 and 7 but not
monosomy 1 (P < 0.001, P < 0.0001 and P = 0.94, respectively) and
with increases in trisomy and tetrasomy frequencies of all three
chromosomes. Long arm deletion of chromosomes 5 and 7 was increased in a
dose-dependent fashion (P = 0.014 and P < 0.0001) up to 3.5-fold in the
exposed workers. These results demonstrate that leukemia-specific changes
in chromosomes 5 and 7 can be detected by FISH in the peripheral blood of
otherwise healthy benzene-exposed workers. We suggest that aberrations in
chromosomes 5 and 7 may be useful biomarkers of early biological effect for
benzene exposure.
相似文献
50.
新生儿复苏培训项目十年回顾 总被引:5,自引:1,他引:5
每年约2000万新生儿出生的中国,鼓励一对夫妻只生一个孩子,随着国民经济迅速发展,生活水平不断提高,每一个新生儿的健康都受到家庭及社会的高度关注。1991年中国要儿死亡率为50.2‰,1998年降至33.3‰,地区性差别很大,贫困地区最高可达56‰,一些条件较好的城市低至7.5‰。围产医学界公认围产窒息为要儿患病及死亡的首要原因,如合并早产、严重肺、脑疾病等后果更为严重。 相似文献