Quality of life after a stay in the intensive care unit

The study of quality of life is a critical indicator in evaluating the care of patients in intensive care. This must be measured to detect signs of psychological and physical sequelae and adapt patient support accordingly.     

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

Direct-to-consumer (DTC) genetic testing services raise scientific, regulatory and ethical questions. A report was prepared by consultation with an expert Working Group and published by the academies of science (European Academies of Science Advisory Council, EASAC) and medicine (Federation of European Academies of Medicine, FEAM). This report reviews current scientific evidence, ascertains the principles that should underpin the options for action by policy-makers, and discusses the potential for devising proportionate and flexible regulation that enables future innovation, taking account of the work of other expert groups, most notably the European Society of Human Genetics. EASAC–FEAM concluded that DTC genetic testing has little clinical value at present, and expresses especial caution in several specific respects, for example relating to testing for high penetrance, serious disorders, prenatal screening, nutrigenomic and pharmacogenetic testing. It was emphasised that regulation must be on the basis that claims about the link between genetic marker and disease are scientifically valid. Other key issues to address include quality assurance (that includes the professional interpretation of results), transparent supply of accurate information, consideration of the implications for established health services, and clarification of consent procedures for any use of data for research purposes. There are important implications: for the European Commission, in revising the Directive on In Vitro Diagnostic Medical Devices; for professional bodies, in supporting training and guideline development; for the broader research community, in generating the evidence base; and for the public health community, in improving the routine translation of research advances into clinical practice.Advances in genomics are leading to the discovery of new genes that cause disease or increase its risk. Until recently, human genetic testing was usually confined to specialist medical genetic services, focused on relatively rare, inherited diseases. However, in a changing landscape, there has been increasing interest in the development of genetic tests for determining susceptibility to the more common, complex disorders.¹ Since 2007, such tests are increasingly offered through the internet, but action by regulatory authorities to scrutinise this provision has been relatively slow.²Consumer genetic services raise scientific and ethical as well as regulatory questions. There are concerns that overstated claims create unrealistic consumer expectations, may harm privacy and induce confusion and anxiety. For example, one recent study³ finds little concordance in results for cancer risk from personal genome screening and the family history-based risk assessment commonly used in genetic counselling services. There have been several initiatives by professional or advisory bodies to identify the issues for managing such tests, most notably by the European Society of Human Genetics (ESHG)⁴ but also, for example, in the UK by the Human Genetics Commission⁵ and in the United States by the American Medical Association.⁶     

Androgen receptor gene haplotype is associated with male infertility

The purpose of the current study was to evaluate the importance of androgen receptor ( AR ) gene haplotypes and polymorphic CAG/GGN microsatellites in the aetiology of male infertility. We genotyped six haplotype-tagging single nucleotide polymorphisms and CAG/GGN microsatellites of the AR gene in 112 infertile and 212 control Estonian men. A total of 13 AR haplotypes (HAP1–13) were identified, among which HAP4 was found to confer increased risk for male infertility (OR = 5.15, 95% CI = 1.75–15.15, p  = 0.003). However, infertile patients and controls had similar lengths and distributions of both AR CAG (mean ± SD number of repeats 21.1 ± 2.5 vs . 21.2 ± 2.3, respectively) and GGN (mean ± SD number of repeats 22.5 ± 1.5 vs . 22.4 ± 1.9, respectively) repeats. In addition, HAP2 was associated with more CAG repeats ( r  = 1.17, p  = 0.033) and HAP3 with fewer CAG repeats ( r  = −2.93, p  < 0.001) than the major haplotype HAP1. HAP3 and HAP4 were associated with more GGN repeats ( r  = 1.35, p  = 0.001 and r  = 1.36, p  = 0.002, respectively) than HAP1. In conclusion, our results implicated the AR -HAP4 gene haplotype in increased risk for male infertility, while no association was found between AR CAG/GGN microsatellites and impaired spermatogenesis.     

Investigating gene expression profile of non-small cell lung cancer

Lung cancer is mainly a lifestyle-associated disease with poor prognosis and the lowest five year survival rate of all types of cancer. Lung cancers are divided into two main groups: small cell lung cancer (SCLC) and non-small cell lung cancer (NSCLC). Surgical treatment is generally indicated in cases of early stage NSCLC, and those patients treated with radical and aggressive surgery have a somewhat better survival rate. The main problems with lung cancer treatment are due to late diagnosis, rapidly developing drug resistance and side effects of the treatment that are experienced by almost all patients. The next step for distinguishing histologically complicated lung cancers and determining optimal treatment strategies is gene expression analysis. Supported by gene expression data, it is possible to prognosticate the course of the disease.     

Opinions of families,staff, and patients about family participation in care in intensive care units

PurposeThe aims of the study were to assess opinions of caregivers, families, and patients about involvement of families in the care of intensive care unit (ICU) patients; to evaluate the prevalence of symptoms of anxiety and depression in family members; and to measure family satisfaction with care.Materials and MethodsBetween days 3 and 5, perceptions by families and ICU staff of family involvement in care were collected prospectively at a single center. Family members completed the Hospital Anxiety and Depression Scale (HADS) and a satisfaction scale (Critical Care Family Needs Inventory). Nurses recorded care provided spontaneously by families. Characteristics of patient-relative pairs (n = 101) and ICU staff (n = 45) were collected. Patients described their perceptions of family participation in care during a telephone interview, 206 ± 147 days after hospital discharge.ResultsThe numbers of patient-relative pairs for whom ICU staff reported favorable perceptions were 101 (100%) of 101 for physicians, 91 (90%) for nurses, and 95 (94%) for nursing assistants. Only 4 (3.9%) of 101 families refused participation in care. Only 14 (13.8%) of 101 families provided care spontaneously. The HADS score showed symptoms of anxiety in 58 (58.5%) of 99 and of depression in 26 (26.2%) of 99 family members. The satisfaction score was high (11.0 ± 1.25). Among patients, 34 (77.2%) of 44 had a favorable perception of family participation in care.ConclusionsFamilies and ICU staff were very supportive of family participation in care. Most patients were also favorable to care by family members.     

Platelet count decline: an early prognostic marker in critically ill patients with prolonged ICU stays

BACKGROUND: Thrombocytopenia is common in ICU patients. The objective of this study was to evaluate possible links between declining platelet counts early in the ICU stay and survival. METHODS: All patients who were admitted to the ICU for at least 5 days and had no thrombocytopenia at the time of admission were included in the study. A multivariable logistic regression model, with hospital mortality as the outcome variable, was built. RESULTS: We included 1,077 patients in the study. At ICU admission, the median platelet count was not significantly different in survivors (256 x 10(9) cells/L; interquartile range [IQR], 206 to 330 x 10(9) cells/L) and nonsurvivors (262 x 10(9) cells/L; 211 to 351 x 10(9) cells/L). Median simplified acute physiology scores II (SAPS II) at ICU admission was worse in nonsurvivors than in survivors (50 [IQR, 37 to 63] vs 37 [IQR, 27 to 48], respectively; p < 0.0001), as was the mean (+/- SD) sequential organ failure assessment (SOFA) score on day 3 (6.3 +/- 3.24 vs 4 +/- 2.8, respectively; p < 0.0001). Absolute platelet counts were lowest on day 4, but differed significantly between survivors and nonsurvivors only on day 7. Conversely, any percentage decline in platelet counts from 10 to 60% on day 4 was significantly associated with mortality. By multivariable analysis, a 30% decline in platelet count independently predicted death (odds ratio, 1.54; 95% confidence interval, 1.12 to 2.14; p = 0.008), in addition to increasing or stable SOFA scores from ICU admission to day 4, older age, male gender, ICU admission for coma, worse SAPS II score at ICU admission, transfer from another ward, and comorbidity. CONCLUSION: In patients who spend > 5 days in the ICU and have normal platelet counts at ICU admission, a decline in platelet counts provides prognostic information. This parameter deserves to be included in new scoring systems.