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Neurofibromatosis 2 is an autosomal-dominant disease, which is characterized by vestibular schwannomas, cataract, retinal hamartomas as well as tumors of the peripheral and central nerve system, demonstrating a variety of expression. The ophthalmologist plays an important role in making the diagnosis, as several ocular manifestations may be shown during childhood, before tumors of the central nerve system become symptomatic. An early diagnosis of NF 2 may prevent deafness by early surgical intervention. Due to primary and secondary reasons such as age-related processes, different sensations like hearing or vision may be compromised. Neuropathy may lead to vestibular disturbances and loss of muscle control. Therapeutic options include cataract surgery, implantation of cochlear or brainstem implants as well as conservative therapy of the ocular surface in paresis of the VIIth cranial nerve or learning to read from the lips. The human NF2 gene was cloned from chromosome 22 in 1993. The major part of the genetic alterations described so far are point mutations as well as deletions or insertions in or around the exons. Geno-phenotype correlations allow some predictions of the course of the disease to be made. 相似文献
73.
Olbrich A Urak L Gröppel G Serles W Novak K Porsche B Benninger F Czech T Baumgartner C Feucht M 《Epilepsy research》2002,48(1-2):103-110
PURPOSE: To determine the frequency and lateralizing value of clinical seizure symptoms in children and adolescents with drug-resistant temporal lobe epilepsy (TLE). METHODS: Patients enrolled had to be <18 years of age and seizure free at follow-up for at least 12 months after epilepsy surgery. Patients were assigned to two age groups, children (age<12 years) and adolescents (age>12 and <18 years). Video-tapes were reviewed blinded to patients' demographic data and results of additional investigations by two independent raters. Clinical signs of known lateralizing significance in adults and additional clinical signs without lateralizing value were assessed. RESULTS: 14 patients (eight boys; 2-18 years) fulfilled the inclusion criteria. Inter-observer agreement was excellent (kappa coefficient: 0.82). Compared with adult series, no differences were found concerning overall occurrence of lateralizing signs and lateralizing accuracy. There were age-related differences, however, concerning the occurrence of individual signs: secondary generalization, complex automatisms and version were less frequent in children than in adolescents. CONCLUSIONS: Clinical signs of lateralizing value can also be found in children and adolescents, provided that the evaluation protocols used consider developmental aspects. 相似文献
74.
Lennertz A Fertmann J Thomae R Illner WD Hillebrand GE Feucht HE Land W Samtleben W Bosch T 《Therapeutic apheresis and dialysis : official peer-reviewed journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy》2003,7(6):529-535
Acute and chronic rejection after kidney transplantation has long been exclusively attributed to cellular and vascular mechanisms. Modern immunosuppressive therapy, therefore, addresses the cellular immune system. Rising experiences in kidney transplantation in the last few decades have revealed that some types of rejection are refractory to the conventional immunosuppressive treatment. Humoral rejection. which has previously been reported as a crucial factor in hyperacute rejection, is now suspected to play also an important role in acute and chronic rejection. Acute humoral rejection (AHR) is characterized by immunohistochemical detection of C4d deposits in peritubular capillaries. As shown for other antibody-mediated diseases, such as some autoimmune diseases, plasmapheresis has been suggested to be an efficient therapeutic approach in AHR. We present four patients with C4d-positive AHR in the early phase after kidney transplantation. In three of the four patients, humoral graft rejection was successfully treated by plasmapheresis. Graft function was significantly improved with a stable long-term outcome. One patient lost the graft. Although the number of patients with C4d-positive AHR treated by plasmapheresis is limited, plasma exchange appears to be an efficient and powerful therapeutic approach to control humoral rejection. 相似文献
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Age-dependent acquisition of hepatitis G virus/GB virus C in a nonrisk population: detection of the virus by antibodies 下载免费PDF全文
Feucht HH Schröter M Zöllner B Polywka S Laufs R 《Journal of clinical microbiology》1999,37(5):1294-1297
Until now there have been few seroepidemiological data for hepatitis G virus/GB virus type C (HGV/GBV-C). A four-antigen HGV/GBV-C immunoblot was established to examine 446 serum specimens from healthy individuals without risk factors for parenteral viral transmission. These individuals were divided into seven groups according to age. Seroprevalence rates were low for children and adolescents (5.6%) and increased for the age groups assumed to be the most sexually active (15.3 to 26.8%). Remarkably, none of the 80 individuals who tested positive for HGV/GBV-C antibodies were simultaneously positive for HGV/GBV-C viremia. From our data we conclude that HGV/GBV-C infection is widespread in the general population (16 to 25%). The development of an antibody response is associated with clearance of HGV/GBV-C viremia. Due to the lack of risk factors for HGV/GBV-C infection of blood, other efficient transmission routes must exist. It must be assumed that HGV/GBV-C transmission may be linked to sexual activity. 相似文献
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Genotyping of hepatitis C virus types 1, 2, 3, and 4 by a one-step LightCycler method using three different pairs of hybridization probes 下载免费PDF全文
Schröter M Zöllner B Schäfer P Landt O Lass U Laufs R Feucht HH 《Journal of clinical microbiology》2002,40(6):2046-2050
Determination of hepatitis C virus (HCV) genotypes has become increasingly important during the last years for prediction of the clinical course and the outcome of antiviral therapy. Therefore, numerous different methods have been developed to enable HCV genotyping. However, many of them are very laborious and expensive, leading to limited usage in daily routine diagnostics. We have established a method which combines the speed of the new LightCycler technology with the use of amplification products generated for diagnostic quantitative HCV RNA determination. Differentiation of HCV genotypes is performed with these amplicons in a single step by using fluorophore-labeled hybridization probes. Although currently only two different acceptor fluorophores are available for the LightCycler, types 1, 2, 3, and 4, which are by far the prevailing HCV genotypes in Europe and the United States, can be distinguished. Genotypes of specimens from 190 chronically HCV-infected patients were determined by the LightCycler method and compared with the results of nucleotide sequencing. Concordant results were obtained for all samples. This new method offers a fast and convenient possibility to determine the quantitative HCV RNA load and the genotype in large-scale settings within about 4 h. 相似文献
80.
M Anderson J Kaufman T R Simon L Barrios L Paulozzi G Ryan R Hammond W Modzeleski T Feucht L Potter 《JAMA》2001,286(21):2695-2702
CONTEXT: Despite the public alarm following a series of high-profile school shootings that occurred in the United States during the late 1990s, little is known about the actual incidence and characteristics of school-associated violent deaths. OBJECTIVE: To describe recent trends and features of school-associated violent deaths in the United States. DESIGN, SETTING, AND SUBJECTS: Population-based surveillance study of data collected from media databases, state and local agencies, and police and school officials for July 1, 1994, through June 30, 1999. A case was defined as a homicide, suicide, legal intervention, or unintentional firearm-related death of a student or nonstudent in which the fatal injury occurred (1) on the campus of a public or private elementary or secondary school, (2) while the victim was on the way to or from such a school, or (3) while the victim was attending or traveling to or from an official school-sponsored event. MAIN OUTCOME MEASURES: National estimates of risk of school-associated violent death; national trends in school-associated violent deaths; common features of these events; and potential risk factors for perpetration and victimization. RESULTS: Between 1994 and 1999, 220 events resulting in 253 deaths were identified; 202 events involved 1 death and 18 involved multiple deaths (median, 2 deaths per multiple-victim event). Of the 220 events, 172 were homicides, 30 were suicides, 11 were homicide-suicides, 5 were legal intervention deaths, and 2 were unintentional firearm-related deaths. Students accounted for 172 (68.0%) of these deaths, resulting in an estimated average annual incidence of 0.068 per 100 000 students. Between 1992 and 1999, the rate of single-victim student homicides decreased significantly (P =.03); however, homicide rates for students killed in multiple-victim events increased (P =.047). Most events occurred around the start of the school day, the lunch period, or the end of the school day. For 120 (54.5%) of the incidents, respondents reported that a note, threat, or other action potentially indicating risk for violence occurred prior to the event. Homicide offenders were more likely than homicide victims to have expressed some form of suicidal behavior prior to the event (odds ratio [OR], 6.96; 95% confidence interval [CI], 1.96-24.65) and been bullied by their peers (OR, 2.57; 95% CI, 1.12-5.92). CONCLUSIONS: Although school-associated violent deaths remain rare events, they have occurred often enough to allow for the detection of patterns and the identification of potential risk factors. This information may help schools respond to this problem. 相似文献