Association study between vitiligo and autoimmune-related genes CYP27B1, REL,TNFAIP3, IL2 and IL21

The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases.     

The rat brachial plexus and its terminal branches: An experimental model for the study of peripheral nerve regeneration

Despite the introduction of microsurgical techniques into clinical practice, the results of surgical procedures involving the brachial plexus and peripheral nerves are still far from spectacular. We therefore studied the rat brachial plexus and its terminal branches in 203 rats. Detailed anatomic and morphologic analyses of the biceps brachii and musculocutaneous nerve, finger flexors, flexor carpi radialis, and the median nerve were performed. Various sources of conventional and vascularized nerve grafts were explored. After musculocutaneous nerve section or median nerve section, there were no articular contractures or automutilations, which constitutes an advantage for these experimental models over the sciatic nerve model. The brachial plexus and its terminal branches provide a good experimental model which can be used to assess the development and normal control of muscle function, examine the mechanisms underlying functional recovery, and test the effects of treatments to enhance recovery. © 1995 Wiley-Liss, Inc.     

Mitotic and meiotic detection of radiation-induced translocations in mouse stem cell spermatogonia using fluorescencein situ hybridization

The efficiency of two methods of detection of translocations induced in mouse stem cell spermatogonia by X-ray doses of 2, 5 and 7 Gy was compared: classical multivalent analysis at diakinesis-metaphase I of meiosis and observation via fluorescencein situ hybridization analysis of mitotic or meiotic stages. Specific DNA libraries for chromosomes 1, 11 and 13 were used. The results obtained indicate that (a) chromosomes 1, 11 and 13 are more involved in multivalent formation than expected on the basis of DNA content and (b) if the mitotic FISH analysis data are corrected for the observed over-representation, the frequencies of induced translocations are similar to those recorded in the classical multivalent studies, suggesting equal scoring efficiencies in both systems.     

Pregnancy and uncomplicated vaginal delivery only 13 months after cardiac transplantation (case report)

Summary Background Pregnancy is prossible in female patients who underwent cardiac transplantation but is associated with unpredictable risks. Methods A 23-year old female patient underwent cardiac transplantation because of dilatative cardiomyopathy. Results Against our advice, she became pregnant 4 months after transplantation. Following an uneventful pregnancy, spontaneous vaginal delivery occurred 13 months after transplantation. The patient gave birth to a healthy new-born in good physical condition. Thereafter, the patient refused to attend any further routine follow-up control. 9 months after delivery, the patient was admitted to hospital in severe cardiac shock. Biopsy showed a serious, acute rejection which was treated with a course of methylprednisolone. Clinically, the patient recovered within 1 week, but died from acute myocardial infarction 1 day after discharge from hospital. Conclusions Only women without a history of rejection episodes, with good kidney function, good graft function, and high compliance should be counselled to become pregnant.      

Pulmonale Thrombendarterektomie: Die Therapie der chronisch thromboembolischen pulmonalen Hypertension— Initiale chirurgische Erfahrung

Zusammenfassung Grundlagen Die pulmonale Thrombendarterektomie stellt eine effektive Therapie zur Behandlung von Patienten mit chronisch thromboembolischer pulmonalar Hypertonie dar. Wir berichten über unsere Erfahrungen mit dieser Operationstechnik bei den ersten 9 Patienten. Methodik Zwischen 1992 und Oktober 1994 wurde bei 9 Patienten eine pulmonale Thrombendarterektomie durchgeführt. über eine mediane Sternotomie wurden die Pulmonalarterien beider Seiten bis in ihre subsegmentalen Aufzweigungen im Sinne einer echten Endarterektomie vom organisierten thromboembolischen Material befreit. Zumeist waren Perioden des totalen Kreislaufstillstandes in tiefer Hypothermie notwendig, wobei diese zunehmend verkürzt werden konnten und 3 Patienten vollst?ndig ohne Kreislaufstopp operiert wurden. Ergebnisse Die perioperative Mortalit?t betrug 11%, wobei der 1. Patient am 14. postoperativen Tag an den Folgen eines Reperfusions?dems verstarb. Alle anderen Patienten sind 4 bis 22 Monate (im Mittel 13 Monate) nach dem Eingriff am Leben und zeigen eine Hochsignifikante Verbesserung ihrer h?modynamischen Situation (mean PAP pr?operativ: 62 mm Hg, postoperativ: 30 mm Hg p<0,001; Cardiac Index pr?operativ: 2,1 1/min/m², postoperativ: 3,6 l/min/m² p=0,001). W?hrend pr?operativ alle Patienten in NYHA-Klasse III oder IV waren, sind die 8 überlebenden jetzt alle in Klasse I oder II. Schlu?folgerungen Die pulmonale Thrombendarterektomie bietet eine erfolgreiche Therapiem?glichkeit für Patienten mit chronisch thromboembolischer pulmonaler Hypertonie mit einer in Anbetracht fehlender konservativer Altermativen akzeptablen Mortalit?t und ausgezeichneten funktionellen Langzeitergebnissen.      

Topographic brain mapping of EEG before and after open-heart surgery

The brain function of 60 patients undergoing open-heart surgery (36 patients receiving coronary artery bypass, 21 patients valve replacements, 3 both) was investigated before and 10 days after the operation utilizing topographic brain mapping of the electroencephalogram (EEG). The postoperative EEG changes were characterized by a slight delta-theta increase, an alpha decrease [especially in the fast alpha (10.5-13 Hz) band] and a beta increase in the relative power. The total power and the absolute power of the delta-theta, alpha and beta showed a decrease, the dominant frequency a significant slowing from 9.7 to 9.3 Hz. The centroid of alpha and beta activity decreased as well. These results are similar to findings obtained in patients with organic brain syndrome. The EEG changes were prominent over the left hemisphere, which may be of particular clinical relevance.     

Aprotinin increases release of von Willebrand factor in cultured human umbilical vein endothelial cells.

Through the perioperative administration of the proteinase inhibitor aprotinin, hemostasis can be improved and postoperative bleeding reduced after cardiac operations. The mechanism of action has been only partially clarified. The goal of our study was to investigate the influence of aprotinin on the synthesis of von Willebrand factor (vWF) in human endothelial cells. Human umbilical vein endothelial cells (HUVEC) were cultivated in vitro and incubated with different aprotinin concentrations (55, 100, and 215 mol/L). With all investigated aprotinin concentrations, there was an increase in vWF synthesis compared with basal secretion (p less than 0.001). When the HUVEC were preincubated with aprotinin and stimulated with thrombin, there was a further significant increase in vWF synthesis. HUVEC that, were first incubated with aprotinin and then stimulated with thrombin demonstrated a significant increase in vWF synthesis compared with basal secretion in nonincubated cells (p less than 0.0001). Also, compared with the cells that had received thrombin stimulation alone, the combination of aprotinin incubation and thrombin stimulation led to a significantly higher vWF concentration (p less than 0.05). Because vWF is necessary for the interaction with platelet factor glycoprotein Ib and platelet adhesion, the demonstrated increase in vWF synthesis could be one of the mechanisms of action of aprotinin leading to its blood-sparing effect.