Tonic pupil,areflexia, and segmental anhidrosis: two additional cases of Ross syndrome and review of the literature

Summary Two patients are described with the triad of tonic pupil, hyporeflexia and segmental anhidrosis (Ross syndrome). Only 18 cases of this syndrome have been reported in the literature so far. While tonic pupil and reduced sweating can be attributed to the affection of postganglionic cholinergic parasympathetic and sympathetic fibres projecting to the iris and sweat glands, respectively, the pathogenesis of diminished or lost tendon jerks remains obscure. To identify the characteristic clinical features, the previous cases of Ross syndrome are reviewed. Recent evidence of subclinical disturbances of sweating in most patients with Adie's syndrome, i.e. tonic pupil and areflexia, casts doubt on the nosological concept of Ross syndrome as a distinct clinical entity.     

Electromechanical properties of perfusion/metabolism mismatch: comparison of nonfluoroscopic electroanatomic mapping with 18F-FDG PET.

The aim of this study was to compare nonfluoroscopic electroanatomic mapping (NOGA), SPECT perfusion imaging, and PET metabolic imaging for assessment of myocardial viability. In particular, we sought to elucidate differences of electromechanical properties between the perfusion/metabolism mismatch as an indicator of a potentially reversible ischemic injury and the perfusion/metabolism match indicating irreversibly damaged myocardial tissue. METHODS: Twenty-one patients with coronary artery disease underwent NOGA mapping of endocardial unipolar voltage, cardiac 18F-FDG PET of glucose utilization, and resting 201Tl SPECT of myocardial perfusion. RESULTS: Electrical activity was 10.8 +/- 4.6 mV (mean +/- SD) in normal myocardium and was unchanged in hypoperfused segments with maintained glucose metabolism (perfusion/metabolism mismatch), 9.3 +/- 3.4 mV (P = not significant). In contrast, hypoperfused segments with a perfusion/metabolism match and nonviable segments showed significantly lower voltage (6.9 +/- 3.1 mV, P < 0.0001 and 4.1 +/- 1.1 mV, P < 0.0001 vs. normal). In hypoperfused segments, metabolic activity was more closely related to endocardial voltage than was myocardial perfusion (201Tl vs. voltage: r = 0.38, SEE = 3.2, P < 0.001; 18F-FDG PET vs. voltage: r = 0.6, SEE = 2.8, P < 0.0001). CONCLUSION: In hypoperfused myocardium, electrical activity by NOGA mapping is more closely related to PET metabolic activity than to SPECT myocardial perfusion. As NOGA mapping does not differentiate hypoperfused myocardium with enhanced glucose utilization from normal myocardium, results from NOGA mapping need to be correlated with results from perfusion imaging to identify hypoperfused, yet viable, myocardium and to stratify patients for revascularization procedures.     

In Vivo Skin Penetration of Acitretin in Volunteers Using Three Sampling Techniques

Etretinate and acitretin are given orally to treat psoriasis and various keratinization disorders. Acitretin, the main active metabolite of etretinate, has the pharmacokinetic advantage of being rapidly eliminated, but it shares etretinate's toxicologic profile. Thus a topical delivery of acitretin with no or reduced systemic adverse effects is desirable. To characterize the therapeutic potential of topically delivered acitretin, we quantitatively assessed its percutaneous penetration in healthy human volunteers. Additionally, three skin sampling techniques, the punch biopsy, the shave biopsy, and the suction blister technique, were validated to quantitate acitretin in the skin. The results suggest that topical delivery of acitretin renders skin concentrations which exceed those reported after oral administration of etretinate or acitretin. However, because of possible interlaminate drug contamination, drug localization within a particular skin compartment cannot be determined.     

Expressed-emotion development and course of schizophrenic illness: considerations based on results of a CFI replication

This study examines the correlation between development of expressed emotion (EE) in relatives and course of illness of 99 DSM-III schizophrenic patients. Patients whose relatives were high EE at baseline and at the 2nd CFI approximately 20 months later had a poor prognosis at the very outset of the study and an unfavourable course of illness. They had a higher rehospitalisation rate, more symptoms, lower psychosocial assessment, and a poorer 2-year and even 8-year outcome. Patients from families with a fluctuating EE or a consistently low EE had better courses. Expessed emotion is therefore a valid predictor not only of symptomatic relapses, but also of other important aspects of schizophrenia. The connection between EE index and course of illness seerns not to be simply reactive or causal, but complex and non-uniform.     

Molekulare Ansätze zur Gentherapie

Zum Thema Zell- und molekularbiologische Methoden haben es in den letzten 25 Jahren erm?glicht, Erkenntnisse in intra- und interzellul?re Funktionsabl?ufe und deren St?rungen zu gewinnen. Besonders in der Onkologie kam es zu einem zunehmenden Wissen über dysregulierte Gene, sog. Onkogene, welche ein dysfunktionelles (Onko)Protein produzieren und damit Zellwachstum und Proliferation in Richtung Malignit?t beeinflussen k?nnen. Tumorsuppressorgene (TSG) wirken regulierend auf den Zellzyklus ein, und im Falle einer vererbten Mutation des einen Allels und einer Deletion des intakten Allels durch Funktionsverlust k?nnen Malignome induziert bzw. Malignomentstehung begünstigt werden. Ein Beispiel hierfür ist das Li-Fraumeni-Syndrom, bei welchem es aufgrund einer Mutation des Tumorsuppressorgens p53 zu einer geh?uften Inzidenz von Mamma- und Ovarialkarzinomen kommt. ?nderungen von Proteasen- oder Adh?sionsmolekülfunktionen von Zellen spielen eine wichtige Rolle bei der Tumorzellinvasion und Metastasierung. Blockierung von Proteasesystemen, z. B. Urokinase/Plasmin-System oder Matrixmetalloproteasen, führen zu einer Inhibierung von Tumorzellinvasion und Metastasierung in vitro und in vivo. Bei einigen Malignomen kommt es zu einer Vermehrung von Genkopien, einer sog. Genamplifikation, wie sie z. B. für Rezeptoren der epidermal „Growth-factor-Familie“ (EGF-R, erbB2, erbB3, erbB4) beschrieben sind. Die betroffenen Zellen reagieren dadurch vermehrt auf autokrine und parakrine Signale und hyperproliferieren. Die Gentherapie stellt durch Wiederherstellung physiologischer Funktionsabl?ufe einen vielversprechenden Ansatz zur Behandlung maligner Erkrankungen dar. Der vorliegende übersichtsartikel wird ohne Anspruch auf Vollst?ndigkeit nach einer kurzen Einführung in die Grundlagenaspekte der Gentherapie und deren derzeitigen Probleme pr?klinische und erste klinische Ergebnisse darstellen.     

The topographic organization of the retinal ganglion cell layer of the lizard Ctenophorus nuchalis.

The numbers of neurons of the ganglion cell layer (GCL) and their distribution in the retina of an Australian lizard Ctenophorus nuchalis were investigated. Retinal wholemounts and sections were prepared for light microscopic and optic nerves for electron microscopic study. Counts of cell numbers in the GCL from wholemounts varied from 200,000 to 380,000. Neurons in the GCL were non-uniformly distributed, forming a high cell density streak along the naso-temporal axis of the retina. Neurons of the GCL formed 2 to 9 layers in the visual streak and a single layer in the rest of the retina. The number of neurons of the GCL in this area was estimated at about 2,100,000. Although the visual streak represented only 16% of the total retinal surface area, it contained about 90% of all neurons of the GCL. Optic axon counts yielded 147,000 myelinated and 2,643,000 unmyelinated fibres. The estimated optic fibre number of 2,790,000 was 18.2% less than the total number of neurons counted from sections in the GCL of the same eye. The unexpected high number of neurons in the area of the visual streak indicates that cell numbers obtained only from wholemount preparations may vastly underestimate the total neuron numbers in the GCL of the lizard retina.     

Safety of virus inactivated antithrombin III concentrate ANTITHROMBIN III IMMUNO (AT III)

In a prospective clinical trial the risk of infection after application of virus inactivated antithrombin III concentrate ANTITHROMBIN III IMMUNO (AT III) was investigated in patients undergoing cardiovascular surgery. The study was conducted according to the recommendations of the International Committee on Thrombosis and Hemostasis (ICTH), with the exception that most patients required additional blood products as well as AT III.

Twenty-seven patients were eligible to test for the risk of acquiring hepatitis B. Twenty-six patients could be evaluated in terms of hepatitis NANB transmission considering ALT-levels whereas 20 patients could be tested for anti-HCV one year after surgery. Samples from 78 patients could be monitored for anti-HIV-1. None of these patients showed any signs of infection. AT III IMMUNO seems to be an antithrombin III concentrate with low or absent infectivity.     

Ultrasound diagnosis of hip dysplasia--current status and future perspectives]

Hip sonography provides a safe pathoanatomical assessment of a newborn hip joint at the earliest possible moment. Based on this safe diagnosis an adequate biomechanical treatment can be started instantly. The mean age of healing even of originally decentered hip joints is 7.5 months, if earliest sonographic diagnosis and adequate biomechanical treatment are performed correctly. Secondary hip surgery can be reduced to a minimum. Cost-benefit-analysis, too, supports the institution of a general sonographic screening of all newborn hip joints.     

Three-dimensional force measurements on mandibular implants supporting overdentures.

The purpose of this study was to determine masticatory and functional forces in three axes on mandibular implants supporting overdentures. Five edentulous test subjects were selected, each having two mandibular implants. Three-dimensional piezoelectric force transducers were mounted on the two-part ITI Bonefit implants and rigidly connected to the denture. Forces in vertical, lateromedial, and anteroposterior directions were measured by means of electrostatic plotter records. The test modalities were light tapping, grinding, maximal occlusal force, and chewing test food. Results showed that the five subjects developed similar stress patterns but quantitatively different occlusal and chewing forces. In all but one subject, reduced maximal occlusal force was found compared to dentate subjects and edentulous subjects with fixed partial prostheses supported by implants. The recordings of chewing cycles when eating test food resulted in very regular rhythmic strokes, similar to those of dentate subjects but with slightly reduced speed. All stress patterns showed that occlusal and chewing forces were mainly directed in vertical, medial, and anterior dimensions. The dominating component was vertical.