Die Adulte Refsum-Erkrankung

Zusammenfassung Die Adulte Refsum-Erkrankung ist eine der wenigen Formen tapetoretinaler Degenerationen, die einer Therapie zugänglich sind. Die Erkrankung ist durch einen erhöhten Plasmaphytansäurespiegel sowie erhöhte Phytansäuregewebskonzentrationen gekennzeichnet. Weitere Symptome neben der tapetoretinalen Degeneration sind periphere Polyneuropathie, zerebelläre Ataxie, neurosensorische Hörminderung, Anosmie, Ichthyose, Skelettveränderungen und Herzrhythmusstörungen. Durch eine phytansäurearme Diät können zumindest die Polyneuropathie und die Ataxie gebessert werden. Alle anderen Symptome können hinsichtlich ihrer Progredienz gestoppt oder gemildert werden. Der günstige Effekt der Diät erfordert, dass möglichst viele, am besten alle betroffenen Patienten erkannt werden, wobei dem Augenarzt durch die frühe Manifestation der tapetoretinalen Degeneration eine besondere Bedeutung zukommt. Eine in der Literatur berichtete Verzögerung von der Symptombeschreibung bis zur Diagnose von 11 Jahren ist nicht akzeptabel.Dieser Beitrag berücksichtigt die Egebnisse des 1st International Refsum Disease Workshop in Berlin (1.–2. April 2005), organisiert vom BMGS-Projekt SND-Netz in Aktion     

Acute intestinal intussusceptions in adults: analysis of 20 cases

AIM OF THE STUDY: To report our experience in the management of acute intestinal intussusceptions in adults. PATIENTS AND METHODS: Retrospective study of data of patients older than 15 years who were operated on for acute intestinal intussusceptions from January 1997 to December 2001. RESULTS: Twelve of the patients were males and eight females with an average age of 41 years (range: 16-71). The clinical and radiological findings were suggestive of bowel obstruction (N = 14), peritonitis (N = 5) and appendicular abscess (N = 1). Correct preoperative diagnosis of acute intestinal intussusceptions was established in 6 cases. Type of intussusception was jejunojejunal (N = 1), ileo-ileal (N = 8), ileocolic (N = 1), ileocecocolic (N = 7) and colocolic (N = 3). Necrosis was found in the intussusceptum in 10 cases and a tumor on the lead point in 14 cases (5 benign lesions and 9 malignant ones). For intussusception involving the colon, all patients underwent en bloc resection with immediate anastomosis, while intussusception located on the small bowel were treated by surgical reduction (N = 1), en bloc resection (N = 8) with immediate (N = 7) or delayed (N = 1) anastomosis. The mortality rate was 15%. CONCLUSION: In our experience, intussusceptions in adults is not an uncommon clinical entity but correct diagnosis is often established peroperatively. En bloc resection is recommended because of the frequency of neoplasms and bowel ischemia.     

Erfassung des hyperkinetischen Syndroms bei Erwachsenen

The attention-deficit hyperactivity disorder (ADHD) is one of the most common disorders in childhood and adolescence with a prevalence of app. 5%. The importance of ADHD in childhood as a factor of vulnerability for psychiatric disorders in adults is becoming a focus of discussion. It was shown that there is a comorbidity in adults with substance abuse, delinquency and personality disorders. There is a growing evidence that ADHD will persist in a significant number of patients during adulthood. This is the first german study to evaluate this interdependence. We examined 164 adult inpatients and 48 healthy volunteers with the Wender Utah Rating Scale (WURS), a retrospective self-evaluation scale for the diagnosis of ADHD in childhood, and the Eysenck impulsiveness questionnaire I7. It could be shown that the WURS and the I7 are suitable instruments for the evaluation of the ADHD in adults especially concerning the aspects of attention deficits and impulsiveness.     

Apnée du sommeil et paralysie cérébrale à l’âge adulte. À propos de trois observations

Respiratory disorders are frequent in cerebral palsy with restrictive and also obstructive disorders. Obstructive sleep apnea has been described in childhood but there are few data about this problem in adults. Usually clinical symptoms are snoring, apneas, nycturia, sleepiness, awakenings, headache, cognitive disorders, and depressive syndrome. Obesity is a strong risk factor. Moreover, prevalence increases with age in adults. We report three cases of adults with cerebral palsy suffering from obstructive sleep apnea. Particularities of this syndrome are discussed in cerebral palsy. Diagnosis may be difficult because of the existing impairment, which can mask specific clinical signs. According to the risk of impairment worsening and of cardiovascular disease, obstructive sleep apnea must be evoked in case of any doubt. Individuals who are suspected of having obstructive sleep apnea should undergo polysomnography to confirm the presence and severity of sleep disordered breathing.     

Acute type-B aortic dissection associated with isthmic coarctation in adult

The authors report a case of acute type-B aortic dissection in association with an unknown isthmic coarctation in a 30-year-old adult. Successful surgical repair was performed 6 months later without cardiopulmonary bypass. Physiopathological aspects and surgical strategy are discussed. Acute aortic dissection distal to isthmic coarctation is extremely rare and has been reported in only 5 other cases. Present case is the first, to our knowledge, to be operated without cardiopulmonary bypass.     

Le modèle du tempérament et du caractère de Cloninger appliqué dans le trouble bipolaire de l’adulte : recension de la littérature d’une approche tempéramentale

Context

Although psychiatric research uses clear diagnostic criteria to describe bipolar disorders, therapists in clinical practice are often confronted with patients presenting a number of symptoms with different degrees of intensity and belonging to more than one diagnostic category. With respect to this actual clinical complexity, there is an increasing interest in a dimensional approach of psychopathological traits to gain better understanding of mental disorders. In the 1980s, Robert Cloninger elaborated on a psychobiological model to explain personality in clinical groups as well as in general population. His model was then operationalised with a questionnaire evaluating temperament (harm avoidance, novelty seeking, reward dependence and persistence) and character (self-directeness, cooperativeness, self-transcendence): the Temperament and Character Inventory (TCI).

Objective

To review all studies conducted in adult bipolar samples on temperament and character according to Cloninger's psychobiological model.

Materials and methods

A search was conducted on MedLine and PsycInfo for all articles written in English or French, between 1986 and September 2008, on temperament and character in bipolar disorder. The words bipolar disorder or mania had to be associated with the following keywords temperament, TCI, Cloninger, TPQ, harm avoidance, novelty seeking, reward dependence.

Results

Across studies, compared to the general population, bipolar subjects have significantly higher harm avoidance, higher novelty seeking and lower self-directness. Some studies have investigated differences between bipolar disorders and other psychopathologies like depression, and borderline personality disorder. Among studies on depression and bipolar disorder, there is no consensus on the findings. Compared to borderline personality disorder patients, bipolar disorder subjects have lower harm avoidance and higher self-directness and cooperativeness. This finding is consistent with Cloninger's hypothesis that all personality disorders have lower self-directness than any axis I disorder. With respect to other temperament and character traits, studies yielded results either contradictory or non-significant. No difference was found when the bipolar group was subdivided according to the clinical presentation (type I vs II) and the suicidal risk, apart from harm avoidance. Bipolar subjects with substance related disorders displayed higher novelty seeking and lower persistence, which might be explained by a low dopaminergic activity that had to be compensated with drug intake. Low persistence causes greater difficulties to overcome substance dependence. However, it is not possible to determine whether these temperament characteristics are specifically linked to bipolar disorder, substance related disorders, or both. Similar limitations apply to bipolar patients with comorbid anxiety disorders, who presented higher harm avoidance and lower self-directness.

Conclusions

Across studies, there are limitations which impede the generalization of the findings to other clinical populations. Age, gender, cultural characteristics, mood status during evaluation, group size, versions of the TCI questionnaire, suicidal risk, clinical type (BP I vs II) and comorbidity differ from one study to another. These methodological variables should be controlled in future studies. Nevertheless, adult bipolar patients appear to present a different temperamental profile than other clinical groups and general population. Therefore, Cloninger's psychobiological model of temperament remains an interesting avenue for future researches in bipolar disorder.     

Standards, Options et Recommandations 2006. Prise en charge des patients adultes atteints de sarcome des tissus mous, de sarcome utérin ou de tumeur stromale gastro-intestinale

Context

The French National Federation of Comprehensive Cancer Centres (FNCLCC) initiated the update of clinical practice guidelines (CPGs) for the management of patients with soft tissue sarcoma, in collaboration with the French National Cancer Institute and the French Sarcoma Group (GSF-GETO), specialists from French public universities, general hospitals and private clinics. This work was based on the methodology developed by the Standards, Options and Recommendations (SOR) project.

Objectives

To update the SOR for the management of patients with soft tissue sarcoma, previously validated in 1995.

Methods

The methodology was based on a literature review and critical appraisal by a multidisciplinary group of experts who defined CPGs according to the definitions of the Standards, Options and Recommendations project. Once the guidelines were developed, they were reviewed by independent experts.

Results

Because of the difficulties inherent in diagnosing and treating sarcoma, it is essential to set up cooperative consulting for the management of these tumours. The updated SOR can serve as a tool to achieve that goal.     

EOG bei adulter vitelliformer Makuladegeneration (AVMD), schmetterlingsförmiger Patterndystrophie und Morbus Best

Ziel der Studie: In dieser Studie wurde das EOG bei adulter vitelliformer Makuladegeneration (AVMD) analysiert und mit dem EOG bei Morbus Best und schmetterlingsf?rmiger Pattern-Dystrophie verglichen. Patienten und Methode: Die Befunde von 49 Patienten (98 Augen) mit AVMD wurden retrospektiv ausgewertet. Von allen Patienten lagen Fundusfotos und eine Fluoreszenzangiographie vor. Bei 57 Augen konnte eine Nachbeobachtungszeit von 1,1 – 20 Jahren (Mittelwert 10,4 Jahre) erreicht werden. Das EOG wurde nach der Methode von Rohde et al. abgeleitet. Die Ergebnisse wurden mit denen bei Morbus Best und schmetterlingsf?rmiger Pattern-Dystrophie verglichen. Ergebnisse: Bei AVMD lagen die Mittelwerte der EOG-Parameter zu jedem Zeitpunkt im Normbereich. Es gab keine signifikanten Unterschiede der EOG-Werte zwischen den verschiedenen Stadien der Erkrankung. Bei Morbus Best lag lediglich das dunkeladaptierte Basispotential im Normbereich. Die Amplitude und die Latenzzeit des Hellanstiegs unterschieden sich signifikant von der AVMD. Bei der schmetterlingsf?rmigen Pattern-Dystrophie lagen die Mittelwerte aller EOG-Parameter im Normbereich. Der Hellanstieg war bei AVMD signifikant niedriger als bei der schmetterlingsf?rmigen Dystrophie. Schlu?folgerung: Die Mittelwerte der EOG-Parameter lagen bei AVMD im Normbereich. Im Lauf der Erkrankung kam es zu keiner signifikanten ?nderung des EOG. Trotz der morphologischen ?hnlichkeit waren die elektrophysiologischen Unterschiede zwischen AVMD und Morbus Best wesentlich ausgepr?gter als diejenigen zwischen AVMD und der schmetterlingsf?rmigen Pattern-Dystrophie.