Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a significant number of UCD patients are affected by their disease in a non-classical way: presenting outside the newborn period, following a mild course, presenting with unusual clinical features, or asymptomatic patients with only biochemical signs of a UCD. These patients are surviving into adolescence and adulthood, rendering this group of diseases clinically relevant to adult physicians as well as pediatricians. In preparation for an international workshop we collected data on all patients with non-classical UCDs treated by the participants in 20 European metabolic centres. Information was collected on a cohort of 208 patients 50% of which were ≥ 16 years old. The largest subgroup (121 patients) had X-linked ornithine transcarbamylase deficiency (OTCD) of whom 83 were female and 29% of these were asymptomatic. In index patients, there was a mean delay from first symptoms to diagnosis of 1.6 years. Cognitive impairment was present in 36% of all patients including female OTCD patients (in 31%) and those 41 patients identified presymptomatically following positive newborn screening (in 12%). In conclusion, UCD patients with non-classical clinical presentations require the interest and care of adult physicians and have a high risk of neurological complications. To improve the outcome of UCDs, a greater awareness by health professionals of the importance of hyperammonemia and UCDs, and ultimately avoidance of the still long delay to correctly diagnose the patients, is crucial.

Changes in Psychological Characteristics of Working Adults in Different Stages of Economic Transition in Lithuania

Global economic changes have psychological consequences and Mr. Lepeska set out to assess these changes in working adults in Lithuania between 1993 and 1997. He surveyed two groups of working adults, with a total of 200 people, randomly selected and representing different organisations and professions. In both groups around 30% of participants were managers, with the remainder working in non-managerial positions. The participants were surveyed twice, once in 1993 and the second time in 1997,using various psychodiagnostic tools to measure their psychological characteristics. The results showed that strategies for coping with stress have changed, with problem solving strategies being used more often, and avoidance behaviour or seeking social support less. Men tended to have rejected these strategy more radically than women. Attitudes towards work had become more positive, with managers' attitudes having changed more significantly than those of employees from lower levels of organisations. Younger people were more positive towards work-related changes, while situational anxiety tended to increase with age, although overall it remained low. Mr. Lepeska found that while there were some indications of an increasing individualist in relation to peers, the traditional collective orientation of Lithuanian adults had if anything increased. People have become more accepting of an unequal distribution of power, making it difficult to increase the participation of subordinates in decision making. He also noted a tendency for Lithuanians to see their organisations as traditional families, expecting them to take care of them physically and economically in return for loyalty. The strong feminine orientation with its stress on interpersonal relations and overall quality of life has also strengthened, but the ability of Lithuanians to take initiative and control their environment was relatively low. Mr. Lepeska concludes that organisations should seek to recruit people who are able to adjust more easily to changes and consider measuring dominance, individualism, and attitudes to work-related change and situational anxiety in the process of professional selection. There should also be more emphasis on team building and on training managers to maintain closer relationships with their subordinates so as to increase the latter's participation in decision making. Good interpersonal relations can be a strong work motivator, as may be special attention to the security needs of older employees.

Health care for older persons in Switzerland: a country profile

Switzerland has the second-most-expensive healthcare system worldwide, with 11.5% of gross domestic product spent on health care in 2003. Switzerland has a healthcare system with universal insurance coverage and a social insurance system, ensuring an adequate financial situation for 96% of the 1.1 million older inhabitants. Key concerns related to the care of older persons are topics such as increasing healthcare costs, growing public awareness of patient autonomy, and challenges related to assisted suicide. In 2004, the Swiss Academy of Medical Sciences issued guidelines for the care of disabled older persons. Since 2000, geriatrics has been a board-certified discipline with a 3-year training program in addition to 5 years of training in internal or family medicine. There are approximately 125 certified geriatricians in Switzerland, working primarily in geriatric centers in urban areas. Switzerland has an excellent research environment, ranking second of all countries worldwide in life sciences research-but only 13th in aging research. This is in part due to a lack of specific training programs promoting research on aging and inadequate funding. In addition, there is a shortage of academic geriatricians in Switzerland, in part due to the fact that two of five Swiss universities had no academic geriatric departments in 2005. With more-adequate financial resources for academic geriatrics, Switzerland would have the opportunity to contribute more to aging research internationally and to improved care for older patients.

[Metaphylaxis of recurrent renal calcium stones]

Calcium containing renal stones represent a common medical problem and show a high rate of recurrence. Therefore, besides the treatment of acute stone episodes, also the prevention of new stone episodes is of crucial importance in the medical care of stone formers. To avoid stone recurrences, medical as well as dietary measures should be established based on the results of a thorough evaluation and the elaboration of an individual risk profile. This review article describes and discusses the currently established treatment options for the prophylaxis of calcium-containing renal stones.

[Reconstruction of a periodontally compromised dentition]

The presented case report describes a systematic treatment concept, the treatment sequence and the maintenance care of a sixty-seven-year old female patient suffering from generalized chronic periodontitis with advanced attachment loss. Due to a pretherapeutic risk assessment, several teeth were classified as "irrational to treat" or "doubtful". Therefore, a comprehensive reconstructive rehabilitation after active periodontal therapy was necessary. The restoration of a periodontally compromised dentition represents various difficulties. The patient wished to have fixed reconstructions. Depending upon anatomical conditions several different reconstructions were used: conventional bridges, partly using a resected molar root, a solely implant-retained bridge and a combined implant-tooth-retained bridge.

Swiss recommendations for the management of varicella zoster virus infections

Infections with varicella zoster virus (VZV) are common viral infections associated with significant morbidity. Diagnosis and management are complex, particularly in immunocompromised patients and during pregnancy. The present recommendations have been established by a multidisciplinary panel of specialists and endorsed by numerous Swiss medical societies involved in the medical care of such patients (Appendix). The aim was to improve the care of affected patients and to reduce complications.

Magnetic resonance imaging for diagnosis and assessment of cartilage defect repairs

Clinical magnetic resonance imaging (MRI) is the method of choice for the non-invasive evaluation of articular cartilage defects and the follow-up of cartilage repair procedures. The use of cartilage-sensitive sequences and a high spatial-resolution technique enables the evaluation of cartilage morphology even in the early stages of disease, as well as assessment of cartilage repair. Sequences that offer high contrast between articular cartilage and adjacent structures, such as the fat-suppressed, 3-dimensional, spoiled gradient-echo sequence and the fast spin-echo sequence, are accurate and reliable for evaluating intrachondral lesions and surface defects of articular cartilage. These sequences can also be performed together in reasonable examination times. In addition to morphology, new MRI techniques provide insight into the biochemical composition of articular cartilage and cartilage repair tissue. These techniques enable the diagnosis of early cartilage degeneration and help to monitor the effect and outcome of various surgical and non-surgical cartilage repair therapies.

Timing of initiation of antiretroviral therapy in AIDS-free HIV-1-infected patients: a collaborative analysis of 18 HIV cohort studies

BACKGROUND: The CD4 cell count at which combination antiretroviral therapy should be started is a central, unresolved issue in the care of HIV-1-infected patients. In the absence of randomised trials, we examined this question in prospective cohort studies. METHODS: We analysed data from 18 cohort studies of patients with HIV. Antiretroviral-naive patients from 15 of these studies were eligible for inclusion if they had started combination antiretroviral therapy (while AIDS-free, with a CD4 cell count less than 550 cells per microL, and with no history of injecting drug use) on or after Jan 1, 1998. We used data from patients followed up in seven of the cohorts in the era before the introduction of combination therapy (1989-95) to estimate distributions of lead times (from the first CD4 cell count measurement in an upper range to the upper threshold of a lower range) and unseen AIDS and death events (occurring before the upper threshold of a lower CD4 cell count range is reached) in the absence of treatment. These estimations were used to impute completed datasets in which lead times and unseen AIDS and death events were added to data for treated patients in deferred therapy groups. We compared the effect of deferred initiation of combination therapy with immediate initiation on rates of AIDS and death, and on death alone, in adjacent CD4 cell count ranges of width 100 cells per microL. FINDINGS: Data were obtained for 21 247 patients who were followed up during the era before the introduction of combination therapy and 24 444 patients who were followed up from the start of treatment. Deferring combination therapy until a CD4 cell count of 251-350 cells per microL was associated with higher rates of AIDS and death than starting therapy in the range 351-450 cells per microL (hazard ratio [HR] 1.28, 95% CI 1.04-1.57). The adverse effect of deferring treatment increased with decreasing CD4 cell count threshold. Deferred initiation of combination therapy was also associated with higher mortality rates, although effects on mortality were less marked than effects on AIDS and death (HR 1.13, 0.80-1.60, for deferred initiation of treatment at CD4 cell count 251-350 cells per microL compared with initiation at 351-450 cells per microL). INTERPRETATION: Our results suggest that 350 cells per microL should be the minimum threshold for initiation of antiretroviral therapy, and should help to guide physicians and patients in deciding when to start treatment.

Immune response deviation and enhanced expression of chemokine receptor CCR4 in TBI patients due to unknown serum factors

BACKGROUND: Severe brain trauma leads to an activation of the immune system. To this date, neither the exact perturbation of the specific immune reaction induced by the traumatic brain injury (TBI), nor the interactions leading to the infiltration of peripheral immune cells into the brain are fully understood. PATIENTS AND METHODS: Serum was collected from 17 patients with TBI and a long bone fracture, 24 patients with an isolated long bone fracture and from healthy individuals. The effect of the serum on normal human monocytes and T-lymphocytes was tested in vitro by assessing proliferation and expression of surface markers, chemokine receptors and cytokines. RESULTS: Serum collected from patients with a TBI and a long bone fracture increased the expression of the chemokine receptor CCR4 in monocytes when compared to patients with an isolated long bone fracture. Extending this comparison to T-lymphocytes, the serum from TBI patients induced lower proliferation rates and decreased expression of the pro-inflammatory cytokine TNF-alpha, while simultaneously increasing the secretion of immune-modulatory cytokines (IL-4, IL-10 and TGF-beta) (p<0.05). CONCLUSION: Patients with a TBI release currently unknown soluble factors into the circulating blood that up regulate expression of chemokine receptor CCR4 in peripheral blood monocytes whilst concurrently inducing expression of immunosuppressive cytokines by activated T-lymphocytes.

Scabies outbreak in an intensive care unit with 1,659 exposed individuals--key factors for controlling the outbreak

OBJECTIVE: To investigate a large outbreak of scabies in an intensive care unit of a university hospital and an affiliated rehabilitation center, and to establish effective control measures to prevent further transmission. DESIGN: Outbreak investigation. SETTING: The intensive care unit of a 750-bed university hospital and an affiliated 92-bed rehabilitation center. METHODS: All exposed individuals were screened by a senior staff dermatologist. Scabies was diagnosed on the basis of (1) identification of mites by skin scraping, (2) identification of mites by dermoscopy, or (3) clinical examination of patients without history of prior treatment for typical burrows. During a follow-up period of 6 months, the attack rate was calculated as the number of symptomatic individuals divided by the total number of exposed individuals. INTERVENTIONS: All exposed healthcare workers (HCWs) and their household members underwent preemptive treatment. Initially, the most effective registered drug in Switzerland (ie, topical lindane) was prescribed, but this prescription was switched to topical permethrin or systemic ivermectin as a result of the progression of the outbreak. Individuals with any signs or symptoms of scabies underwent dermatological examination. RESULTS: Within 7 months, 19 cases of scabies were diagnosed, 6 in children with a mean age of 3.1 years after exposure to the index patient with HIV and crusted scabies. A total of 1,640 exposed individuals underwent preemptive treatment. The highest attack rate of 26%-32% was observed among HCWs involved in the care of the index patient. A too-restricted definition of individuals at risk, noncompliance with treatment, and the limited effectiveness of lindane likely led to treatment failure, relapse, and reinfestation within families. CONCLUSIONS: Crusted scabies resulted in high attack rates among HCWs and household contacts. Timely institution of hygienic precautions with close monitoring and widespread, simultaneous scabicide treatment of all exposed individuals are essential for control of an outbreak.

[Treatment of ascites, hyponatremia and hepatorenal syndrome in liver cirrhosis]

Ascites and hyponatremia are frequent complications of advanced liver cirrhosis. Over 50 % of cirrhotic patients develop ascites and about one third gets hyponatremic. The development of ascites is due to an increased sodium retention in the kidneys, leading to expansion of extracellular volume and accumulation of fluid in the peritoneum. Hyponatremia is related to an impairment in the renal capacity to eliminate solute-free water that causes water retention that is disproportionate to the sodium retention, thus causing a reduction in serum sodium concentration. The exact pathogenesis of sodium retention is not clear, yet. The main pathogenic factor responsible for hyponatremia is a nonosmotic hypersecretion of vasopressin from the neurohypophysis. There is evidence suggesting that hyponatremia predisposes to hepatic encephalopathy. Impairment in glomerular filtration rate in hepatorenal syndrome is due to renal vasoconstriction. Treatment of ascites consists of potassium sparing diuretics, loop diuretics, and/or paracentesis. The current standard of care of hyponatremia based on fluid restriction is unsatisfactory. Currently, a new family of drugs, known as vaptans, which act by specifically antagonizing the effects of vasopressin on the V2 receptors located in the kidney, is evaluated for their role in the management of hyponatremia. Because data on long-term administration are still incomplete, they cannot be used routinely, yet. Liver transplantation is the treatment of choice for hepatorenal syndrome. As bridge to transplantation long-term administration of intravenous albumin and vasoconstrictors can be used.

Plurality of tree species responses to drought perturbation in Bornean tropical rain forest

Drought perturbation driven by the El Niño Southern Oscillation (ENSO) is a principal stochastic variable determining the dynamics of lowland rain forest in S.E. Asia. Mortality, recruitment and stem growth rates at Danum in Sabah (Malaysian Borneo) were recorded in two 4-ha plots (trees ≥ 10 cm gbh) for two periods, 1986–1996 and 1996–2001. Mortality and growth were also recorded in a sample of subplots for small trees (10 to <50 cm gbh) in two sub-periods, 1996–1999 and 1999–2001. Dynamics variables were employed to build indices of drought response for each of the 34 most abundant plot-level species (22 at the subplot level), these being interval-weighted percentage changes between periods and sub-periods. A significant yet complex effect of the strong 1997/1998 drought at the forest community level was shown by randomization procedures followed by multiple hypothesis testing. Despite a general resistance of the forest to drought, large and significant differences in short-term responses were apparent for several species. Using a diagrammatic form of stability analysis, different species showed immediate or lagged effects, high or low degrees of resilience or even oscillatory dynamics. In the context of the local topographic gradient, species’ responses define the newly termed perturbation response niche. The largest responses, particularly for recruitment and growth, were among the small trees, many of which are members of understorey taxa. The results bring with them a novel approach to understanding community dynamics: the kaleidoscopic complexity of idiosyncratic responses to stochastic perturbations suggests that plurality, rather than neutrality, of responses may be essential to understanding these tropical forests. The basis to the various responses lies with the mechanisms of tree-soil water relations which are physiologically predictable: the timing and intensity of the next drought, however, is not. To date, environmental stochasticity has been insufficiently incorporated into models of tropical forest dynamics, a step that might considerably improve the reality of theories about these globally important ecosystems.

Orphan Care: An Introduction

This collection aims to cast light on the social work profession and its care for orphans in middle and low income nations. Four countries are profiled in this work, and the focus in each portrayal is the work done by professionals as well as the socio-political context of this work in the area of care for orphaned children. As will be argued later, both our international perspective and our understanding of the needs and care of orphans around the world are limited in the English language social work literature. This work represents an attempt to address these limitations. I whole-heartedly embrace Watts’ urgent call,

Orphan Care: An Introduction

This collection aims to cast light on the social work profession and its care for orphans in middle and low income nations. Four countries are profiled in this work, and the focus in each portrayal is the work done by professionals as well as the socio-political context of this work in the area of care for orphaned children. As will be argued later, both our international perspective and our understanding of the needs and care of orphans around the world are limited in the English language social work literature. This work represents an attempt to address these limitations. I whole-heartedly embrace Watts’ urgent call, “International and comparative social work and social welfare have some catching up to do…In order to seek answers, we need to recognize we have much to learn from each other. We have much to learn about how social work is practiced in countries different from our own. We have much to learn about the similarities and the differences in social work in various countries. Our learning about its many facets and expressions can challenge our own interpretations of reality and our own truth claims and move us to new ways of thinking and new ways of understanding” (1997, p. 5).

[Community-integrated acute psychiatric care. Options and limitations]

The shift of psychiatric care from the hospital to the community has been accompanied by a reduction of hospital beds and shortened durations of inpatient treatment, but also by an increase in admissions. This evolution may be largely attributed to the prime focus of community mental health institutions on rehabilitation. The continued implementation of reforms in psychiatric care is contingent upon effectively halting the "revolving door phenomenon" by incorporating community-integrated treatment approaches into the care of acutely ill patients. Since the mid-1960s, a series of studies have established the efficacy of two community-integrated modalities for the treatment of acute psychiatric illness, i.e. home-based and day hospital treatment. In general, these approaches not only seem to be as effective as inpatient care for certain groups of patients but also reduce their need of hospitalisation, thereby contributing towards a cost effective, comprehensive psychiatric care system.