山东地区先天性心脏病患者CFC1基因突变研究

目的对山东地区126例先天性心脏病患者进行CFC1基因突变筛查,阐明CFC1基因突变类型和特点,为先天性心脏病患者的基因诊断和基因治疗提供理论依据。方法．从126例先天性心脏病患者外周血白细胞中提取基因组DNA,进行PCR扩增CFC1第2和3外显子,对PCR产物进行直接测序分析。结果在126例先天性心脏病患者患儿的CFC1基因第2、3外显子测序中,均未发现基因突变。结论CFC1基因突变率低,可能不是山东地区先天性心脏病患儿的主要致病基因。     

Retinitis pigmentosa in a young man with Noonan syndrome: Further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

We report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. In addition, decreased vision, refractive errors, strabismus, and optic disc anomalies were reported in CFC patients. This observation suggests that NS and CFC are variable manifestations of the same entity. © 1996 Wiley-Liss, Inc.     

Should patients with polycystic ovarian syndrome be treated with metformin?

The recognition of insulin resistance as a principal factor in the pathogenesis of polycystic ovarian syndrome (PCOS) has led to the use of insulin-lowering agents, also called 'insulin-sensitizing drugs', for its treatment. The most extensively studied insulin-lowering agent in the treatment of PCOS is metformin: an oral antihyperglycaemic agent used initially in the treatment of type 2 diabetes mellitus. Metformin is effective in the treatment of PCOS-related anovulation and infertility. Moreover, preliminary evidence indicates that metformin may also be effective in decreasing the risk of early spontaneous miscarriage in women with PCOS. Metformin also appears to induce cardioprotective effects on serum lipids as well as plasminogen activator inhibitor (PAI)-1 and may decrease the risk of development of type 2 diabetes. The highly promising therapeutic profile of metformin is related to the role of this agent in controlling an important aetiologic factor in the pathogenesis of PCOS: hyperinsulinaemia.     

Clinical Experience with Growth Hormone Treatment in Patients with β-Thalassaemia Major

The aetiology of the growth retardation occurring in patients with beta-thalassaemia major is considered to be multifactorial. Although growth hormone (GH) secretion appears to be normal in many thalassaemic patients with short stature, there is evidence indicating impaired GH secretion in approximately 3% of patients. The response to recombinant human GH treatment (rHGH) is not predictable, based on either the parameters known to affect the response to treatment or the type of defect in the GH-insulin-like growth factor (IGF-1) axis. The wide variation in growth velocity observed during rHGH treatment suggests that treatment with the usual dose of rHGH (0.6 U/kg/week) cannot be considered effective in all patients, although rHGH has been successful in some patients. Therefore further studies are required in order to evaluate the effects of supraphysiological doses of rHGH on growth. Since these patients are prone to develop abnormal glucose homeostasis, oral glucose tolerance tests must be performed periodically during rHGH treatment.     

Correlation of clinical outcomes with β-glucan levels in patients with invasive candidiasis

The correlation of β-glucan (BG) levels with clinical outcomes in invasive candidiasis (IC) remains unknown. Patients with proven IC were followed prospectively from diagnosis to outcome with twice-weekly serum BG sampling. Correlation of BG with clinical outcome was assessed in each patient. BG levels tend to decrease in successfully treated patients and increase in treatment failures. BG levels may be useful as surrogates for outcome evaluation of IC.     

Do patients with sleep maintenance insomnia have a problem with sleep maintenance?

Do patients with primary insomnia differ from good sleepers with respect to the number or duration of awakenings or to the stages from which awakenings occur? To address this question, polysomnography (PSG) records were evaluated in 10 good sleepers (GS) and 10 primary insomnia patients (PI). PSG records were evaluated for occurrence and duration of awakenings and for the stage immediately preceding each awakening. PIs woke more frequently and for longer durations than did GSs. PIs' awakenings tended to occur from Stages 1 or 2; GSs' occurred from epochs scored as movement times. The data from this study represent the first attempt to characterize the stages from which awakenings occur in sleep maintenance insomnia.     

Preschool children’s attachment security is associated with their sharing with others

The current study examined relations between preschool children’s attachment pattern and their sharing behavior. To this end, 26 German children aged five years (15 girls) were first administered an Attachment Story Completion Task to assess their attachment pattern and the degree of their attachment security. Immediately thereafter, they participated in an established paradigm, a mini-dictator game, that assessed their inclination to share costly as well as noncostly with a friend, a disliked other, and a stranger. Analyses showed that degree of attachment security was positively correlated with children’s generosity towards a disliked other and their inclination to engage in costly sharing. Moreover, the absence of an organized attachment pattern was related to a general decrease in generosity towards all recipients. The results point to the functional role of children’s attachment for the early development of sharing behavior.     

Crohn's disease associated with Sweet's syndrome and Sjögren's syndrome treated with infliximab

The association of Crohn''s disease (CD) and Sweet''s syndrome is rare and the presence of Sjögren''s syndrome in Crohn''s disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn''s disease associated with Sweet''s syndrome, one of which is the first case of CD and Sweet''s concomitantly associated with Sjögren''s syndrome. Both cases responded rapidly to Infliximab therapy with complete resolution of the skin lesions.     

Hypoxia inducible factor 1α in hepatocellular carcinoma with cirrhosis: Association with prognosis

Background

Hypoxia inducible factor 1α (HIF-1α) is a protein related with carcinogenesis and metastasis in many tumors. However, little is known about the prognostic value of HIF-1α in hepatocellular carcinoma (HCC) patients with cirrhosis.

Elasticity changes anti-correlate with NO production for human endothelial cells stimulated with TNF-α

Tumor necrosis factor alpha (TNF-α) is a critical cytokine that is involved in systemic inflammatory response and contributes to the activation of the pro-inflammatory phenotype of the endothelium. In the present study, effects of TNF-α on morphology and elasticity of endothelium in relation to the production of NO and actin fiber reorganization were analyzed in human dermal microvascular endothelial cells. The cells were incubated in MCDB medium solution and stimulated with 10  \textng/ml10\;\text{ng/ml} of TNF-α. Atomic force microscopy measurements have enabled characterization of cell morphology and elastic properties in physiological conditions. The spectrophotometric Griess method was applied to estimate nitric oxide (NO) production of the cells. We demonstrated that TNF-α-induced changes in elasticity of endothelium anti-correlate with NO production and are associated with the reorganization of actin cytoskeleton.     

Does power matter with ECT?

BACKGROUND: To assess the incidence of depressed inpatients requiring high output ECT and the response of this group compared with a group requiring standard output ECT. METHODS: We reviewed the records of 59 consecutive inpatients that were treated with bilateral ECT between January 2001 and January 2004. Diagnosis of major depression was based on DSM IV criteria. Response and remission to ECT (respectively defined as a 50% reduction in score and a score of < or = 7 on the Hamilton Rating Scale for Depression; HRSD) of both groups were compared. RESULTS: Of the 59 patients, 13 (22%) required high output ECT. These patients needed significantly more ECT treatments than patients in the standard dose group (16.4+/-7.1 versus 10.4+/-4.5; p=0.01). In total, 31 of 46 patients (67%) requiring standard output ECT and 11 of the 13 patients (85%) requiring high output ECT responded to ECT. This difference is not significant. LIMITATIONS: This study has a retrospective nature and a rather homogenous sample. CONCLUSION: In this study 1 in 5 of the depressed inpatients needs a high dose energy of bilateral ECT to induce an adequate seizure. The efficacy of ECT in these patients is similar to that in the standard dose group. Considering these facts, high output ECT devices should be available for use in routine clinical practice.     

Developmental change associated with human immunodeficiency virus infection in school‐age children with hemophilia

This study was designed to examine (a) developmental change associated with human immunodeficiency virus (HIV) infection in hemophilic boys ages 6 to 16 years and (b) whether age at infection was a critical variable in developmental change for children with HIV disease. Of the 11 subjects, 5 were HIV‐seronegative (HIV‐), and 6 were HIV‐seropositive (HIV+). The HIV+ children were asymptomatic at entry, but by the end of the study, one child had received a diagnosis of AIDS. All subjects were medically well at each time of assessment Standardized measures of general intelligence, academic achievement, neurological development, and problem behaviors were administered to each child every 6 months for 2 years. Both the HIV‐ and HIV+ children performed within age expectations at each time of assessment, and their parents reported very few behavior problems, indicating that the children were adjusting well to chronic illness. Both groups obtained lower achievement test scores than expected for their level of general intellectual ability. Differences were found in the pattern of retest effects for the two groups. There were improvements in Wechsler intelligence test performance over time for the HIV‐ children, but the HIV+ children demonstrated subtle declines in performance on measures of verbal and perceptual abilities. The HIV+ children infected at a younger age (M = 3 years, 11 months) performed more poorly on measures of perceptually related skills and demonstrated more deficient retest effects generally on tasks requiring visual‐motor coordination and perceptual organization than those infected at an older age (M = 9 years, 4 months). In addition, they exhibited more frequent signs of neurological problems than those infected later in life. The findings are discussed in terms of percolation theory, and implications for the children's educational planning are considered.