Dystrophia myotonica and pregnancy]

We describe the maternal and neonatal complications of pregnancy in two patients with myotonic dystrophy. The disease leads to an increased spontaneous abortion rate, hydramnios, prolonged first and second stages of labour, retained placenta, postpartum haemorrhages and anaesthetic sensitivity in the mother. The neonatal problems are caused by the congenital form of the disease. The major clinical features of congenital myotonic dystrophy are bilateral facial weakness, hypotonia, neonatal distress, feeding difficulties, talipes, tent-shaped mouth, mental retardation and delayed motor development. Relatives of a known myotonic dystrophy patient should be advised to let themselves be examined for this disease. If the disease is diagnosed, information should be given regarding possibilities for prenatal diagnosis. Pregnancy in myotonic dystrophy patients should be monitored by a gynaecologist. Labour has to take place in a hospital with intensive care facilities for mother and child.     

Applicability of a real-time quantitative PCR assay for diagnosis of respiratory syncytial virus infection in immunocompromised adults

Respiratory syncytial virus (RSV) accounts for the majority of respiratory virus infections, producing high mortality rates in immunocompromised patients with hematologic malignancies. The available methods for the rapid detection of RSV by antigen detection or PCR either lack sensitivity, require complex laboratory manipulation, or have not been evaluated in this patient population. To assess the applicability of a TaqMan-based real-time PCR technique for the detection of RSV A and B in immunocompromised adults, we developed a rapid, sensitive detection method that simultaneously detects RSV A and B and can be applied in routine diagnostics. The specificity of the assay was assessed using a panel of reference strains of other respiratory viruses and RSV. Electron microscopy-counted stocks of RSV A and B were used to develop a quantitative PCR format. Eleven copies of viral RNA could be detected for RSV A strain Long, and 14 copies could be detected for RSV B strain 9320, corresponding to 50% tissue culture infective doses of 0.86 and 0.34, respectively. The assay was evaluated on 411 combined nose and throat swabs derived from immunocompromised adults with or without signs of respiratory tract infection. The diagnostic efficacy of the TaqMan PCR determined on the clinical samples showed that this real-time PCR technique was substantially more sensitive than the combination of conventional viral culture and shell vial culture. None of the clinical specimens derived from patients without signs of respiratory illness were found to be positive for RSV by real-time TaqMan PCR.     

Low elementary movement speed is associated with poor motor skill in Turner's syndrome

The article aims to discriminate between 2 features that in principle both may be characteristic of the frequently observed poor motor performance in girls with Turner's syndrome (TS). On the one hand, a reduced movement speed that is independent of variations in spatial accuracy demands and therefore suggests a problem in motor execution. On the other hand, a disproportional slowing down of movement speed under spatial-accuracy demands, indicating a more central problem in motor programming. To assess their motor performance problems, 15 girls with TS (age 9.6-13.0 years) and 14 female controls (age 9.1-13.0 years) were tested using the Movement Assessment Battery for Children (MABC). In additionally, an experimental procedure using a variant of Fitts' graphic aiming task was used to try and disentangle the role of spatial-accuracy demands in different motor task conditions. The results of the MABC reestablish that overall motor performance in girls with TS is poor. The data from the Fitts' task reveal that TS girls move with the same accuracy as their normal peers but show a significantly lower speed independent of task difficulty. We conclude that a problem in motor execution is the main factor determining performance differences between girls with TS and controls.     

False-negative prenatal diagnosis of restrictive dermopathy

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis. © 1992 Wiley-Liss, Inc.     

Enhanced viral clearance in interleukin-18 gene-deficient mice after pulmonary infection with influenza A virus

T helper 1 driven immune responses facilitate host defence during viral infections. Because interleukin-18 (IL-18) mediates T helper 1 driven immune responses, and since mature IL-18 is up-regulated in human macrophages after influenza virus infection in vitro, it has been suggested that IL-18 plays an important role in the immune response to influenza. To determine the role of IL-18 in respiratory tract infection with influenza, IL-18 gene-deficient (IL-18(-/-)) and normal wildtype mice were intranasally inoculated with influenza A virus. Influenza resulted in an increase in constitutively expressed IL-18 in the lungs of wildtype mice. The clearance of influenza A was inhibited by IL-18, as indicated by reduced viral loads on day 8 and day 12 after infection in IL-18(-/-) mice. This enhanced viral clearance correlated with increased CD4(+) T-cell activation in the lungs as reflected by CD69 expression on the cell surface. Surprisingly, interferon-gamma (IFN-gamma) levels were similar in the lungs of IL-18(-/-) mice and wildtype mice. Intracellular IFN-gamma staining revealed similar expression levels in lung-derived natural killer cells, CD4(+) and CD8(+) T cells, indicating that IFN-gamma production is IL-18-independent during influenza virus infection. Tumour necrosis factor-alpha production by CD4(+) T cells was significantly lower in IL-18(-/-) mice than in wildtype mice. Our data indicate that endogenous IL-18 impairs viral clearance during influenza A infection.     

The incorporation of different demand concepts in the job demand-control model: effects on health care professionals

This paper reports a study of 212 health care professionals that focuses on job characteristics as predictors of employee health. By means of covariance structure modelling (LISREL 8) we tested the interactive assumptions of the Karasek (1979) Job Demand-Control (JD-C) Model [Karasek, R.A., Jr., 1979. Job demands, job decision latitude, and mental strain: implications for job redesign. Administrative Science Quarterly, 24, 285-307.] using three different concepts of job demands (i.e. psychological job demands, physical demands and emotional demands) in combination with a more focused measure of decision latitude (i.e. job autonomy) to predict employee health (i.e. job satisfaction, job involvement, emotional exhaustion and psychosomatic health complaints). Controlling for gender and age, the results partly support the JD-C hypotheses by finding three out of twelve assumed interaction effects. More specifically, different outcome variables are predicted by different combinations of job autonomy with the three kinds of job demands, respectively. In conclusion, although we refute the central hypotheses of the JD-C model to a large extent, the current (interactive) findings are quite illuminating and will be discussed in the context of their theoretical and practical implications. Researchers as well as practitioners have to broaden their perspective on 'job demands' in health care work and need to focus on different kinds of job demands to capture the complexity of this work setting.     

Relationship between anterior fontanelle pressure measurements and clinical signs in infantile hydrocephalus

The treatment of choice in progressive hydrocephalus is drainage of cerebrospinal fluid in order to reduce elevated intracranial pressure (ICP). Defining the right moment for surgical intervention, however, in a hydrocephalic infant on the basis of clinical signs alone can be a difficult task. Clinical signs of raised ICP are known to be unreliable and sometimes even misleading. In the present study, the relationship between long-term anterior fontanelle pressure (AFP) measurements and clinical signs was investigated in 37 infants with hydrocephalus. The decision as to whether to operate or not was based on clinical signs alone; AFP values were not taken into account. There was an overall difference between the non-operated group and the preoperative measurements in the operated group, and also between the preoperative and the postoperative measurements in the latter, in regard to both AFP measurements and clinical signs. Almost all preoperative AFP values were increased. The direct correlation () between most individual clinical signs and AFP levels, however, was low (=0.15–0.41). The clinical sign tense fontanelle showed the best correlation with the AFP levels (=0.75). Furthermore, using logistic regression analysis, no combination of clinical signs could be found which reliably predicted the AFP. The relationship between the AFP pressure variables and clinical signs was also examined. The pathological A-waves occurred only in the presence of raised (baseline) AFP, a situation in which considerably more frequent B-waves were observed as well. It was concluded that clinical signs of raised ICP in infantile hydrocephalus are not very reliable and AFP monitoring can therefore provide valuable information on intracranial dynamics in patients with dubious neurological manifestations of progressive hydrocephalus.     

Induction of apoptosis by heat and γ-radiation in a human lymphoid cell line; role of mitochondrial changes and caspase activation

Purpose: The aim of the study was to investigate the molecular mechanisms involved in apoptosis of human promyelocytic cells (HL60) induced by hyperthermia and to compare this to radiation-induced apoptosis as a reference model.

Materials and methods: Apoptosis of HL60 cells was induced by heat-treatment (43°C during 1?h) or by γ-radiation (8?Gy) and followed at increasing time periods after treatment with Annexin V binding to phosphatidylserine (PS). The transition of the mitochondrial membrane potential (Δψ_m) was estimated by the extent of mitochondrial JC-1 uptake. Bcl-2 and Bax protein expression levels were monitored using fluorescent-labelled antibodies. Caspase activation was studied using a fluorochrome-labelled pan-caspase inhibitor (FLICA), which also allowed one to study the kinetics of the apoptotic cascade.

Results: After heat-treatment or irradiation of HL60 cells, a decreased Δψ_m as well as PS membrane expression were detectable after 8?h. Bcl-2 and Bax protein expression levels were decreased and increased, respectively, 1?h after heat-treatment or irradiation. The apoptotic rate of HL60 cells, as measured by the FLICA binding, was faster with heat-treatment as compared to γ-irradiation. Addition of a pan-caspase inhibitor prevented PS externalization after heat-treatment but not after irradiation. The presence of a pan-caspase inhibitor did not influence the decrease of Δψ_m both after heat-treatment and γ-irradiation. However, the addition of the specific caspase-2 inhibitor zVDVAD-fmk prevented the mitochondrial breakdown after heat-treatment. Inhibition of caspase-2 had no effect on the γ-irradiation induced apoptosis.

Conclusion: These results suggest that the commitment to apoptosis in HL60 cells after heat-treatment is started by mitochondrial membrane transition involving the Bcl-2 family members and is mainly executed in a caspase-dependent pathway. The results suggest that caspase-2 plays a key role in the heat-induced apoptosis.     

Intervention Characteristics that Facilitate Return to Work After Sickness Absence: A Systematic Literature Review

Introduction In many Western countries, a vast amount of interventions exist that aim to facilitate return to work (RTW) after sickness absence. These interventions are usually focused on specific target populations such as employees with low back pain, stress-related complaints or adjustment disorders. The aim of the present study is to detect and identify characteristics of RTW interventions that generally facilitate return to work (i.e. in multiple target populations and across interventions). This type of knowledge is highly relevant to policy makers and health practitioners who want to deliver evidence based care that supports the employee??s health and participation in labour. Methods We performed a keyword search (systematic literature review) in seven databases (period: 1994?C2010). In total, 23 articles were included and assessed for their methodological quality. The characteristics of the interventions were evaluated as well. Results Early interventions, initiated in the first 6?weeks of the RTW process were scarce. These were effective to support RTW though. Multidisciplinary interventions appeared effective to support RTW in multiple target groups (e.g. back pain and adjustment disorders). Time contingent interventions in which activities followed a pre-defined schedule were effective in all physical complaints studied in this review. Activating interventions such as gradual RTW were effective in physical complaints. They have not been studied for people with psychological complaints. Conclusions Early- and multidisciplinary intervention and time-contingent-, activating interventions appear most effective to support RTW.