[Evaluation of physician-accompanied vacation trips for heart patients ("heart vacation trips"). Participants' satisfaction and long term impact on health related quality of life]. / Evaluation ärztlich betreuter Reisen für Herzkranke ("Herzreisen"). Zufriedenheit der Reiseteilnehmer und langfristige Auswirkungen auf die gesundheitsbezogene Lebensqualität.

Physician-accompanied vacation trips for heart patients (so-called "heart vacations trips") have been offered since 1981 and have been regulated by guidelines by the German Society of Prevention and Rehabilitation of Cardiovascular Diseases since 1993. The goal of this evaluation is to assess the satisfaction of the participants and to analyze the long-term impact on health-related quality of life. Between October 1995 and May 1998, 22 vacation trips with 228 participants were evaluated. Satisfaction with the vacation trips was assessed by a questionnaire specifically designed for this study. Health-related quality of life was measured with 5 discrete scales from the standardized and validated instrument "Profile of Quality of Life for the Chronically Ill" ("physical capacity", "ability to enjoy and relax", "positive mood", "absence of negative mood", "sociability"). The proportion of satisfied or very satisfied participants ranged from 81 % (accommodations) to 94 % (physician care). Regarding health-related quality of life, significant or borderline significant improvements were observed on three of the five scales (ability to enjoy and relax: p = 0.02, positive mood: p = 0.001, physical capacity: p = 0.08). Stratified analyses showed improvements for younger participants (< or = 70 years) on all five quality of life scales, whereas no statistically significant improvement was found for older participants. Participants who had a cardiovascular disease other than coronary heart disease showed significant improvements on four scales, whereas participants with coronary heart disease only showed an increase on the scale "positive mood". This evaluation shows that physician-accompanied vacation trips were assessed very positively by the participants and that these trips are associated with long-term improvement in health-related quality of life for specific groups of participants.

Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection.

Since the first reports of successful pregnancies after treatment with intracytoplasmic sperm injection (ICSI) in humans numerous attempts have been made to assess the genetic risks of this highly invasive technique. During the study period (February 1995-November 96), 142 couples were referred to our genetic counselling unit prior to ICSI. In three couples, genetic counselling revealed a high recurrence risk for a monogenic disease (myotonic dystrophy, hereditary ataxia and polycystic kidney disease). In nine out of 128 men (7%) an abnormal karyotype was identified, including three Robertsonian translocations, two reciprocal translocations, three sex chromosome aberrations and one case with centric fission of chromosome no. 7. A total of 14 men refused chromosomal analysis. Only one of the 122 women examined had an abnormal karyotype (47, XXX). Five out of six men with congenital bilateral absence of the vas deferens (CBAVD) had at least one mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Three had mutations in both CFTR alleles, including one case in which the second mutation was the 5T allele. One patient with CBAVD and a single Delta F508 CFTR mutation also had left renal agenesis. In conclusion, we strongly recommend that genetic counselling, chromosomal analysis and, in the case of CBAVD, screening for CFTR mutations should be offered to all couples with a diagnosis of male or idiopathic infertility.

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.

X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal beta-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport protein. There is a striking variability of endocrinological and neurological symptoms in patients with ALD, with no clearly evident correlation between mutations of the ALD gene and the different neurological phenotypes. No data on endocrinological symptoms and the ALD genotype have been published so far. We report endocrinological, clinical, laboratory and molecular genetic data from 55 patients with ALD from 34 families. Endocrinological symptoms of adrenal insufficiency were observed in 33 patients, 20 of whom showed additional neurological symptoms of cerebral ALD or adrenomyeloneuropathy. Isolated neurological symptoms were seen in 12 patients; in nine patients there were neither endocrinological nor neurological symptoms. Mutations of the ALD gene (n = 28) were detected in 50 patients (including nine sets of brothers) from 32 families. No correlation was found between the ALD gene mutation and endocrinological dysfunction. However, we found that all sets of brothers were concordant for the endocrinological phenotype (cortisol synthesis was reduced in two sets and normal in seven sets), whereas four sets showed a discordant neurological phenotype. As yet unknown hereditary factors other than mutations within the ALD gene may interfere with the endocrinological phenotype more strongly than with the neurological phenotype of ALD.

Arrested cerebral adrenoleukodystrophy: a clinical and proton magnetic resonance spectroscopy study in three patients.

We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N-acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy.

Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

We report on monozygotic twins with different clinical phenotypes of X-linked adrenoleukodystrophy. At the age of 10 years both boys were neurologically asymptomatic. The first cranial magnetic resonance examination showed normal findings in the first twin and parietooccipital demyelination in the second. The latter developed behavioral problems 9 months later, followed by visual impairment and gait ataxia. His cranial magnetic resonance image at the age of 11 years showed progressive demyelination. In contrast, neurological status and magnetic resonance images remained normal in the first twin. The same point mutation in exon 8 of the adrenoleukodystrophy gene (C2203T) was detected in both boys. All genotype examinations were consistent with the diagnosis of monozygotic twins, suggesting that some nongenetic factors may be important for different adrenoleukodystrophy phenotypes.

Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.

Adrenoleukodystrophy (ALD), an X-linked inherited metabolic disorder, is the most frequent inborn peroxisomal disease. It leads to demyelination in the central and peripheral nervous system. Defective beta-oxidation of saturated very long chain fatty acids (VLCFAs; C22:0-C26:0) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system, peripheral nerves, adrenal gland, and blood. The ALD gene has been recently identified and encodes a 745-amino-acid protein. We screened patients with adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN) from 20 kindreds for mutations in the ALD gene. Eleven missense and two nonsense mutations, five deletions, and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD-gene mRNA. Four mutations could be shown to be de novo. All mutations could be confirmed in carriers by sequencing genomic DNA. No correlation between the type of mutation and the severity of the phenotype could be observed. The mutations were not detected in the ALD gene of 30 healthy persons.

[Measuring quality of life in weekly assessment of the disease course in myocardial infarct patients--initial results of methodology]. / Lebensqualitätsmessungen im wöchentlich erhobenen Verlauf bei Herzinfarktpatienten--Erste Ergebnisse zur Methodik.

In a quality-of-life study in the first year after successful in-patient rehabilitation following first infarct, a questionnaire method for daily and weekly evaluation of subjective life quality was carried out. The questionnaire presents varying aspects in particular processes concerning the assessment and valuation of life quality. Errors in measurement resulting from processes of memory and revaluation as they are possible in methods with longer intervals of data collection are avoided. An investigation of the reliability of this method revealed good reliability. To definitely assess the validity of this evaluation, further inquiries will be necessary. However, the correlation analysis points to a great significance of the collected weekly data.

[Does health knowledge affect behavior?]. / Beeinflusst Gesundheitswissen das Verhalten?

An investigation was carried out into how far personal behaviour with regard to health is controlled by consciousness and attitude towards health-relevant subjects. 387 young men between the ages of 18 and 22 were interviewed on their knowledge, views and health behaviour in respect of the following problem areas: sport, smoking, alcohol consumption, food and use of medicines. 76% of the men who had graduated from German High School (compared with 60% who had not) are engaged in sports on a regular basis. It was not possible to find any concurrence between the positive assessment of sports in terms of health and the extent of training. 89% of all the respondents considered smoking to be very damaging to health. There were no significant differences between smokers and non-smokers, nor was there any significant difference in the consumption of alcohol between high-school graduates and non-graduates. The men who participated more actively in sports indicated a much lower consumption of alcohol. The high-school graduates paid greater attention to dietary fibres in the food and tended to avoid cholesterol (71% compared with 53%). 86% of all the respondents took no medicines and there were no significant differences between the groups. By and large it was established that the translation of cognitively established health-relevant attitudes into reality and personal action was indeed poor.

[School sports--early prevention of coronary heart disease?]. / Schulsport--eine frühe Prävention der koronaren Herzkrankheit?

In its usual form, school sports is neither calculated to motivate a lifelong pursuance of sports, nor is it particularly suitable for primary prevention of coronary heart disease. In view of the multifactorial pathogenetic nature of this disease, school sports can be nothing more than an adjunctive prophylactic measure. Epidemiological studies have shown a high level of probability for the usefulness of physical exercise as a preventive measure in childhood and adolescence. However, the findings of sports-medical research on endurance sports must be taken into account. In a controlled study of Hamburg children covering a period of 3 years, it was shown that pupils with high self-esteem, which was particularly encouraged, have better pre-conditions for a lifelong interest in active sports.

[Cancer in residents of heavy traffic areas]. / Krebs bei Anwohnern verkehrsreicher Strassen.

A part of the emission of automobiles (exhaust gases, brake-block rubbing-off) is known to be cancerogenic. This study examines the risk of getting cancer, for citizens of Hamburg who are living in streets with high traffic frequency (more than 30,000 automobiles a day). The cancer frequency from 61,636 exposed persons were (standardised to age and specific for sex) related to 11,794 cases of cancer in the years of 1970 to 1972 in the population of Hamburg (1.8 million citizens). 483 cases of all cancer were found within the study group and vs. 455.0 had been expected (SMR = 1.06). 242 of these were men vs. 217 had been expected/SMR = 1.12). 100 cases of death from pulmonary cancer were found and vs. 74.5 expected (SMR = 1.34), 53 cases of colonic cancer vs. 31.5 expected (SMR = 1.68). The presented data cannot explain external variables, such as smoking cigarettes. The risk of getting cancer for citizens, who are living in streets with high automobile frequency and -emissions, should be evaluated further more by specific studies.

Community phase of cardiac rehabilitation.

Although their effects cannot be shown to statistically alter coronary heart disease mortality or morbidity, voluntary health organizations throughout the world clearly play an important role in bringing about favorable changes in the natural history of this disease and in the community phase of its management. In particular, voluntary organizations are able to conduct research surveys and field trials and by so doing favorably influence state health administration. They are able to correct temporary deficiencies in health services, particularly in the form of psychosocial support and cardiac health education. Observers note that the major change in community phase management has occurred with the wider use of coronary bypass surgery since 1975. More objective data, especially relating to psychosocial factors, can be expected when further research (especially the MONICA Study) is completed. Throughout the world, however, existing voluntary health organizations could be more active in the community phase of cardiac rehabilitation. It would seem an area where such organizations could well do more. A challenging question that should be constantly reviewed is 'Can we do more to reduce the effects of invalidism in cardiac patients?'