Large French-Canadian family with Lewy body parkinsonism: exclusion of known loci.

The identification of rare, large families with Parkinson's disease (PD) has provided important clues that have contributed to our understanding of this complex disorder. We have identified a large French-Canadian kindred that spans five generations consisting of more than 90 individuals. A total of 65 individuals now have been examined, had venous blood drawn, and DNA extracted. Two-point and multipoint linkage analysis was performed to assess linkage to known PD genes or loci. Within the third and fourth generations of this family there are 10 living, plus 3 deceased members with well-documented levodopa responsive parkinsonism. Autopsy results on 1 member demonstrated the loss of pigmented neurons in the substantia nigra and the presence of alpha-synuclein positive Lewy bodies. Four of the PD patients have prominent postural and kinetic tremors that preceded their parkinsonism by up to 10 years. Two other individuals within the family have prominent isolated postural and kinetic tremors without parkinsonism. The alpha-synuclein(4q21.3-23), Parkin(6q25.2-27), PARK3 (2p13), PARK4, and ubiquitin carboxy terminal hydrolase-L1 (4p14-16.3) and PARK6 and PARK7 (1p35-36) loci were excluded in this kindred using closely linked markers. The clinical and pathological features of this family are consistent with the diagnosis of PD. This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome-wide screen has been undertaken in an effort to identify a novel PD gene.     

Breast Cancer Genes

Abstract: The identification of familial breast cancer genes heralds an era of directed breast cancer treatment. Currently, two hereditary breast cancer genes have been identified, BRCA-1 and BRCA-2 . Although accounting for only approximately 5% of all breast cancers, they are being used to identify women with germ-line alterations that are at high risk of developing breast or ovarian cancer. With the identification of such genes comes a need for consideration of the ethical issues associated with testing. These genes are also being examined from a biochemical standpoint encompassing both their biological roles and biochemical pathways in which they reside. Such studies are likely to lead to novel breast cancer therapies.     

The Helmholtz Total Artificial Heart Labtype

Abstract: To perform the first experimental tests for validation of a new gear unit concept, the pump chamber, diaphragm, and pusher plate design of an orthotopic electromechanical total artificial heart (TAH) (Helmholtz Labtype) was manufactured. In its early stage of development, it provides some of the most important features of the conceptual final artificial heart. The new gear unit transforms a uniform unidirectional rotational motor movement into translatory pusher plate movements, with resting phase in the end–diastolic position, and the angled pump chamber orientation determines the available space for the motor and gear unit. Furthermore, this labtype provides flexibility with regard to use of different types of structural parts for experimental investigations. The first in vitro test results, obtained with specially designed circulatory mockloops that simulate physiological preload and afterload conditions, are presented. They comprise pressure and flow generation, motor performance, efficiency, and energy consumption. The results prove the feasability of the new gear unit concept for an electromechanical artificial heart and allow a reliable determination of the necessary performance of the future brushless DC motor for the first in vivo TAH model.     

Patch test reactions in atopic patients

Patch testing was carried out in 851 atopic patients; 181 atopic dermatitis (AD) patients were additionally tested with 50% dilutions of the test substances. The occurrence of allergic and irritant reactions was frequent, being 57% and 33% for AD patients aged 28-41 years and 19-27 years, respectively. Among age-matched allergic rhinitis (AR)/allergic conjunctivitis (AC) or asthma (A) patients, the number of allergic reactions varied from 25 to 30%, and for irritant reactions was 24%. In all groups, nickel, fragrance-mix, balsam of Peru and neomycin were the commonest allergens. Contact allergy to ingredients of topical medicaments was common among AD patients and patients with severe and long-lasting dermatitis were most frequently sensitized. However, sensitivity to multiple substances was not common among those patients. The number of irritant reactions was considerable, but 50% dilution of the test substances did not solve the problem.     

工业X射线探伤防护剂量水平的研究

本文介绍了用实验方法研究不同管电压, 钢板厚度与散射线之间的关系.结果表明, 透射比随管电压升高而增加, 并随钢板厚度增加而下降；散射比随散射角的增大而逐渐下降, 至180°时为最低值。此研究为X射线探伤作业的辐射防护提供了依据。     

Clinical impact of CCM mutation detection in familial cavernous angioma

Introduction and background A 3-year-old Bosnian girl with a large symptomatic brainstem and multiple supratentorial cavernous angiomas, who underwent neurosurgical treatment, is presented. As multiple cavernomas are more common in familial cases, genetic analyses and neuroradiological imaging were performed in the patient and her parents to see whether there was any evidence for inheritance. This information is important for genetic counseling and provision of medical care for at-risk relatives. Currently, no recommendation is available on how to manage these cases.Results Genetic analyses demonstrated a novel CCM1 frameshift mutation (c.1683_1684insA; p.V562SfsX6) in the child and the asymptomatic 27-year-old mother. Sensitive gradient-echo magnetic resonance imaging of the mother revealed multiple supratentorial lesions, whereas analogous imaging of the father showed no pathological findings.Conclusion This case exemplifies that seemingly sporadic cases with multiple lesions might well be hereditary and that presymptomatic genetic testing of family members may identify relatives for whom clinical and neuroradiological monitoring is indicated.     

4666例妇女PCR检测HPV感染结果分析

目的:了解宫颈炎、宫颈及外阴赘生物、外阴疣等患者HPV感染的状况。方法:提取患者宫颈分泌物及脱落细胞、赘生物脱落细胞,用荧光定量PCR方法对提取物进行HPV6/11、HPV16/18检测。结果:4 666例患者中HPV感染率为25.50%;1 808例宫颈炎患者中HPV16/18型阳性率为13.38%;2 858例宫颈或外阴赘生物、外阴疣患者HPV6/11型阳性率为33.17%;228例同时接受了HPV6/11和HPV16/18型检测的患者中,有28例同时感染低危型及高危型乳头瘤病毒,占受检者的12.28%。结论:HPV在女性生殖道有较高的感染率,不同型别的乳头瘤病毒感染可导致不同的病变,HPV是影响女性生殖健康的重要危险因素;宫颈癌的年轻化与HPV感染低年龄段高感染率有密切关系;加强生殖健康宣传教育,提高性保健综合服务水平任重而道远。     

IgE and atopy in perinatally HIV-infected children

Elevated serum immunoglobulin E (IgE) and increased prevalence of atopy is reported in patients infected with human immunodeficiency virus (HIV). The elevated serum IgE may be attributed to polyclonal stimulation of B cells or IgE production against allergens, viruses, fungi and bacteria. This study investigates the prevalence of atopy in perinatally HIV-infected children, and the relationships between serum IgE (and other serum immunoglobulins) with atopy, CD4+ cell count and HIV-disease stage. Serum immunoglobulin levels, epicutaneous skin test for common aeroallergens, clinical Centers for Disease Control and Prevention (CDC) classification, CD4+ cell counts and allergy history were extracted from the charts of perinatally HIV-infected children on highly active antiretroviral therapy. The prevalence of atopy (52%) and the pattern of aeroallergen sensitivity were comparable with the US pediatric population. Serum IgE levels did not correlate with clinical disease stage. However, in non-atopic patients, serum IgE levels increased with disease progression (p = 0.02). There was an inverse relationship between the prevalence of elevated serum IgE levels and atopy with progression of disease (p = 0.019). Serum IgE did not correlate with atopy, CD4+ cell count, or duration of HIV infection or levels of serum immunoglobulins. This is the first study to show no increased prevalence of atopy in perinatally HIV-infected children compared with the general population. In advanced stages of HIV, elevated serum IgE may be specific for antigens other than those known as allergens.     

Prognostic value of supine scintigraphic heart function and simultaneous conventional exercise response in patients after myocardial infarction

A total of 240 survivors of one or more myocardial infarctions were consecutively admitted to perform supine exercise radionuclide ventriculography. Within 3 years after the test, 22 died; this group was compared to an age-matched control group of 22 survivors for left and right ventricular function during rest, exercise, and simultaneously assessed exercise performance as well as ECG variables. Evaluation of 3-year survival by linear discriminant analysis revealed an accuracy of 82% for discriminant models using ECG and exercise performance variables. Implementation of resting left ventricular ejection fraction and change of right ventricular ejection fraction during exercise, as well as scintigraphic presence or absence of dyskinesia, improved the accuracy of the model to 91% of correctly classified patients.     

Utility of pulmonary function testing in the management of chronic obstructive pulmonary disease

This study sought to measure the effect of pulmonary function testing (PFT) data on the decisions made by generalist physicians in the management of chronic obstructive pulmonary disease (COPD). 148 physicians were randomly assigned to two groups, both of which were asked to manage two identical fictitious but representative cases of COPD, which included history, physical, x-ray, and laboratory results. The experimental group received PFT results in addition. No significant difference was noted between the two groups in management based on availability of PFT data. The optimum utility of PFT data in the management of COPD may be exaggerated and has yet to be determined. Received from the Department of Medicine, Division of General Internal Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin. Presented at the Annual Scientific Meeting of the American College of Chest Physicians, October 28, 1992, Chicago, Illinois.