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61.
Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?   总被引:2,自引:0,他引:2  
We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.  相似文献   
62.
There is limited information on the relationship between parental practices that specifically discourage current cigarette smoking and adolescent cessation, and how this relationship varies by age. Among 1629 adolescent smokers, self-reported receipt of parental communication not to smoke was significantly and positively associated with readiness to quit. The strength and significance of this association decreased from early to middle adolescence and was not significant in late adolescence.  相似文献   
63.
Reduction of transmission of human immunodeficiency virus type 1 (HIV-1) through human milk is needed. Alkyl sulfates such as sodium dodecyl sulfate (SDS) are microbicidal against HIV-1 at low concentrations, have little to no toxicity, and are inexpensive. The authors have reported that treatment of HIV-1-infected human milk with < or = 1% (10 mg/mL) SDS for 10 minutes inactivates cell-free and cell-associated virus. The SDS can be removed with a commercially available resin after treatment without recovery of viral infectivity. In this article, the authors report results of selective biochemical analyses (ie, protein, immunoglobulins, lipids, cells, and electrolytes) of human milk subjected to SDS treatment and removal. The SDS treatment or removal had no significant effects on the milk components studied. Therefore, the use of alkyl sulfate microbicides to treat milk from HIV-1-positive women may be a simple, practical, and nutritionally sound way to prevent or reduce transmission of HIV-1 while still feeding with mother's own milk.  相似文献   
64.
65.
Hip fractures among elderly people frequently result in permanent disabilities, nursing home placement, and death. The bulk of hip fracture research focuses on elderly women. Within the Veterans Health Administration (VHA), the majority of patients are men. There are no published national reports on hip fractures with large male samples, or on related inpatient mortality among veterans. This retrospective study of 13,546 veterans with hip fracture discharges from 1998-2002 found unadjusted mortality rates are higher in the VHA, compared with the general population. VHA patients tend to be older men in poor health who stay in the hospital longer Increased knowledge about the risks and outcomes associated with hip fractures in men could lead to improved primary and secondary injury-prevention programs. Rehabilitation nurses in acute care can be catalysts in proactively incorporating protective devices, screening for osteoporosis, and initiating lifestyle changes in their plans of care to optimize outcomes for hip fracture patients.  相似文献   
66.
Extramarital involvement (EMI) occurs with high prevalence among couples in clinical and community settings, frequently resulting in considerable distress both to participants and their spouses. The field lacks a synthesized review of this literature. Without such a synthesis, it has been difficult for researchers and clinicians to have an understanding of what is and is not known about EMI. This article reviews the large and scattered EMI literature using a framework that encompasses multiple source domains across the temporal process of engaging in and responding to EMI. In addition, this review delineates conceptual and methodological limitations to previous work in this area and articulates directions for further research.  相似文献   
67.
68.
The etiology of cardiac allograft vasculopathy is not known, but may be preceded by both endothelial cell and smooth muscle dysfunction of the epicardial coronary arteries. We here report a case of acute, reversible coronary artery vasospasm which caused a myocardial infarction in a cardiac transplant recipient. The patient had a complex post-transplant course, including an episode of severe vascular rejection several months before this presentation. Interestingly, the event was captured in its early stages because the patient presented with chest pain: a rare event because of the denervation of the transplanted heart. Our ability to document the etiology of this patient's myocardial infarction supports the concept that cardiac allograft vasculopathy is a progressive disease that, in its early stages, may include a reversible component of abnormal vasoreactivity.  相似文献   
69.
We compared nicotine dependence and withdrawal in male alcoholic and control ever-smokers, controlling for relevant demographic and clinical variables. Alcoholics were more likely to meet criteria for moderate or severe nicotine dependence and endorse more nicotine dependence symptoms. Symptoms reported more frequently by alcoholics included: (a) using nicotine in larger amounts or over a longer time than intended; (b) continued use despite problems caused or exacerbated by nicotine; (c) marked tolerance; and (d) experiencing characteristic nicotine withdrawal symptoms. Alcoholics also smoked more heavily. Other than “headaches,” and “decreased heart rate,” alcoholics consistently endorsed nicotine withdrawal symptoms at a higher rate. After controlling for demographic and clinical variables and level of nicotine dependence, only “feel depressed” differed significantly between groups. Our research supports previous findings suggesting that nicotine dependence is more severe in those with a history of alcohol dependence. As a result, alcoholics may experience greater discomfort from nicotine withdrawal upon smoking cessation.  相似文献   
70.
Current knowledge about alcohol and marital functioning is limited by restrictive sample selection, inattention to the literature on individual-based alcoholic subtypes, and lack of research linking individual differences among alcoholics to marital functioning. The present study was designed to study marital functioning of alcoholics in light of current alcohol typologies. Subjects were part of a larger study on conjoint treatment of alcoholic males and their female partners. Four typologies—including Type 1/2, In-Home/Out-of-home, SteadyIEpisodic, and EarlyILate Onset—were tested for replicability and discriminant validity before linking them to marital functioning. Discriminant validity was found only for the Early (59%)-versus Late (41 %)-Onset typology; thus, further analyses linked only this typology with marital functioning. At baseline, Early-Onset couples reported more marital instability, and the females in these couples were more distressed. During treatment, Early-Onset couples reported higher daily marital satisfaction than Late-Onset couples. Regardless of age of onset, males reported higher marital satisfaction than their spouses during treatment, but their satisfaction did not increase during treatment. Female partners' marital satisfaction increased during treatment. Female partners of Late-Onset males reported particularly low marital satisfaction during treatment. Parsing the sample according to the early-/late-onset typology yielded different predictors of marital satisfaction for males and females within each subtype. For female partners of Early-Onset alcoholics, psychological distress unrelated to her pattner's drinking severity was most associated with her own marital satisfaction, whereas marital adjustment of female partners of Late-Onset alcoholics was most associated with the male's level of perceptual accuracy regarding her needs. This pattern was reversed for the males; marital adjustment of Early-Onset alcoholics was most associated with his partner's perceptual accuracy of his needs, whereas marital functioning of Late-Onset alcoholics was best accounted for by his own psychological distress.  相似文献   
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