Reversibility of dilated cardiomyopathy by low-dose oral roxithromycin in a patient with chronic lyme-borreliosis

It has been shown earlier that dilated cardiomyopathy can be associated withBorrelia burgdorferi infection.Here the authors present a case: a fifty-nine-year-old man who presented with dyspnea, oligoarthritis, paresthesia in both hands, and acrodermatitis chronica atrophicans. Upon further cardiologic exploration by cardiac catheterization and two-dimensional echocardiography (volume-length-area method), the patient exhibited an ejection fraction (EF) of 49%. Serology revealed IgG ELISA positive and IIFT 1:64 positive forB. burgdorferi. The patient received 2 × 150 mg roxithromycin orally for six weeks. Upon a second examination after termination of treatment (three months later), the patient presented with negativeB. burgdorferi serology and normal EF (70%). While cardiac manifestations thus apparently vanished, other symptoms persisted.This case may give new insight into mechanisms of action of macrolides againstB. burgdorferi (a field where information is inherently scant). One may, however, argue that in a well-perfused organ like the heart, tissue-activity of roxithromycin may suffice in order to unfold its activity againstB. burgdorferi.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

Successful treatment of periungual warts using photodynamic therapy: a pilot study

AIM: The aim of this pilot study was an investigation on photodynamic therapy (PDT) whether it is a good alternative for treating periungual and subungual warts of the hands. STUDY DESIGN: Twenty patients (mean age: 30.5 years) with a total of 40 periungual and subungual warts were treated with PDT. A photosensitizer, 20%delta-aminolevulinic acid was applied on the warts. After a mean incubation time of 4.6 h (SD: 1.2), the warts were irradiated with the VersaLight for 5-30 min (15.2 +/- 4.3 min). RESULTS: After a mean of 4.5 treatments a mean clearance of 100% was achieved in 90% of the patients. One patient (5%) showed a clearance of 50% and another showed no improvement. The subungual or periungual location of the wart had no influence on the number of treatments or end result (P > 0.05). There were two recurrences during the mean follow-up period of 5.9 months (SD: 7.6). Besides mainly pain and hyperpigmentation, most treatments had no side-effects. CONCLUSION: PDT can offer a good alternative for treating periungual warts of the hands. Larger studies are indicated.     

Absence of structural alterations of the multidrug resistance genes in transitional cell carcinoma

Summary Tumor DNA from 27 patients with treated or untreated transitional cell carcinomas of the urinary tract was screened for genomic alterations of the multidrug resistance genes in order to determine whether structural changes of these genes are important in primary urothelial tumors. None of the tumors showed evidence of amplification or rearrangements of either mdr1 or mdr2. The lack of amplification or rearrangements observed in these tumors suggests that structural alterations of the mdr1 and mdr2 genes are not important mediators of drug resistance in TCC.Supported in part by grant CA-34775 from the National Institutes of Health and by a grant from the Heckscher Foundation for ChildrenDr. Klein is a fellow of the American Cancer Society     

Biological and physical properties of autogenous vascularized fibular grafts in dogs

The biological and biomechanical properties of normal fibulae, fibulae that had had a sham operation, and both vascularized and non-vascularized autogenous grafts were studied in dogs at three months after the operation. The study was designed to quantify and correlate changes in these properties in orthotopic, stably fixed, weight-bearing grafts and to provide a baseline for additional studies of allografts. The grafts were eight centimeters long and internally fixed. The mechanical properties of the grafts were studied by torsional testing. Metabolic turnover of the grafts was evaluated by preoperative labeling of the dogs with 3H-tetracycline for resorption of bone mineral and with 3H-proline for turnover of collagen. Cortical bone area and porosity were measured. Postoperative formation of bone was evaluated by sequential labeling with fluorochrome. The vascularized grafts resembled the fibulae that had had a sham operation and those that had not had an operation with regard to the total number of osteons and the remodeling process, as measured both morphometrically and metabolically. The vascularized grafts were stronger and stiffer than the non-vascularized grafts and were not different from the bones that had had a sham operation. In contrast, the non-vascularized grafts were smaller, weaker, less stiff, and more porotic, had fewer osteons, and demonstrated increased turnover and resorption compared with the vascularized grafts, the bones that had had a sham operation, and the bones that had not been operated on.     

Case report: Concordant traumatic brainstem contusion delayed diagnosis in a young man with Wilson's disease

Wilson's disease is a hereditary autosomal recessive disorder of copper metabolism. The corresponding gene locus has been localized on the long arm of chromosome 13. Three different clinical variants of the disease can be distinguished: hepato-cerebral, abdominal/hepatic, and central nervous type. The heterogeneity of symptoms can cause problems in differential diagnosis, especially when another concordant disorder can also explain the pathogenesis of symptoms. The case report of a young man who suffered from brainstem contusion demonstrates the possibilities of misinterpretation because presenting symptoms could be attributed either to traumatic brain injury followed by adjustment disorder or Wilson's disease. Clinical signs included leftsided hemiparesis, bilateral gaze direction nystagmus, marked dysarthria with consecutive pervasive mutism, choreo-athetoid movements, spasmodic torticollis and diplopia dependent on gaze direction. Slit lamp examination showed Kayser-Fleischer's corneal ring. EEG- and computer assisted tomography investigations revealed non-specific findings. The patient was treated with D-Penicillamine. Alternative treatment with oral zinc preparations is discussed.

---

Zusammenfassung Beim Morbus Wilson handelt es sich um eine autosomal rezessiv vererbte Störung des Kupferstoffwechsels. Der Genort konnte auf dem langen Arm des Chromosoms 13 lokalisiert werden. Klinisch können aufgrund ihrer Symptomatik drei Verlaufsformen (hepato-zerebraler, abdominalhepatischer und zerebraler Typ) unterschieden werden. Die Vielfalt der Symptome kann differentialdiagnostische Schwierigkeiten bereiten. Das Beispiel eines jungen Mannes mit einer traumatischen Hirnstammkontusion zeigt, wie die Diagnose der hepato-lentikulären Erkrankung dadurch erschwert wurde, daß die Pathogenese der Symptome durch die Hirnstammkontusion und darauf folgende Anpassungsstörungen erklärt worden war. Die Symptomatik bestand aus linksseitiger Hemiparese, lateralem Blickrichtungsnystagmus, Dysarthrie mit nachfolgendem universalem Mutismus, choreo-athetodischen Bewegungsstörungen, Torticollis spasmoidicus und blickrichtungsabhängigem Auftreten von Doppelbildern. Bei der Spaltlampenuntersuchung stellte sich der Kayser-Fleischer Ring dar. EEG- und computertomographische Untersuchungen erbrachten nur unspezifische Befunde. Die Behandlung erfolgte mit D-Penicillamin. Die alternative Behandlung mit oraler Gabe von Zinksalzen wird diskutiert.

---

Résumé La maladie de Wilson est une affection héréditaire autosomale recessive concernant le métabolisme cuivré. Le locus du gène a été situé sur le bras long du chromosome 13. Du point de vue clinique on distingue trois formes symptomatologiques: le type hepato-cérébral, hepato-abdominal et cérébral. La diversité des signes cliniques peut poser des problèmes de diagnostic différentiel, car d'autres affections peuvent se présenter avec cette même Symptomatologie. Nous rapportons ici l'exemple d'un homme jeune, porteur d'une maladie de Wilson et victime d'une contusion traumatique du tronc cérébral, dont les signes cliniques ainsi que les troubles du comportement pouvaient été autant rapportés à la contusion du tronc cérébral qu'à l'affection métabolique.La Symptomatologie comprenait une hemiparesie gauche, un nystagmus lateralisé, une dysarthrie avec mutisme secondaire universel, des mouvements choréo-athétosiques, un torticolis spasmodique et une diplopie dépendante de la direction du regard. L'examen à la lampe à fente permettait à mettre en evidence un anneau de Kayser Fleischer. L'EEG et le scanner cérébral ne montraient pas d'anomalies specifique.Le traitement a consisté en l'administration de D-Penicillamine. Traitment alternative avec les sels de zinc est discuté.

     

La psychothérapie de l'enfant : la symbolisation accompagnée

The psychotherapy of children may be carried out by psychiatrists and psychologists, but also by psychomotricians, language therapists, etc. It varies according to age, pathology, context, expectancies. Symptoms, language use, introspection capacities, capacities in various domains such as language, body expression, etc. are taken into account. Treatment is indicated according to each individual situation. Psychotherapy is conceived as a method for accompanying symbolisation. It is meant to help children use playing and creativity as methods of symbolisation. It does not aim at searching unconscious significations. Art therapy may now be used in the field of social interventions or teaching, as a way to reduce the violence of contemporary society.