bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lack of correlation between phenotype and genotype in untreated 21‐hydroxylase‐deficient Indonesian patients
Authors: Goossens Kristel , Juniarto Achmad Z. , Timmerman Marianna A. , Faradz Sultana M. H. , Wolffenbuttel Katja P. , Drop Stenvert L. S. , De Jong Frank H. 
Published: February 2009

SummaryBackground Mutations inCYP21A2lead to deficiency of 21‐hydroxylase and can have either severe or moderate effects on phenotype, which can be prevented by early treatment. We studied long‐term effects of this deficiency on phenotype in patients who had not been treated for prolonged periods and correlated these phenotypes with the mutations found in our patients.Objective To assess the correlation between genotype and phenotype in untreated patients with 21‐hydroxylase deficiency.Design Subjects with 21‐hydroxylase deficiency were selected from a large population of Indonesian patients with disorders of sexual differentiation.CYP21A2mutations in these patients were correlated with their phenotype in terms of genital development and steroid hormone levels.Patients Fifteen 46,XX patients with ages between 1 and 33 years, of whom 12 had never been treated before.Measurements Mutations inCYP21A2, genital phenotype and steroid hormone levels.Results We found in all patientsCYP21A2mutations which affect enzyme activity, with a relatively high allele frequency of R356W (40%), I172N (20%) and IVS2 ‐ 1A > G (13%). Clitoris length was directly correlated with levels of testosterone, but not with age. The phenotype was not always concordant with the genotype: different phenotypes (mild to severe virilization) were found in sibling pairs with the mutations IVS2 ‐ 13A > G or I172N. The high frequency of homozygous mutants for R356W in patients aged from 1 to 11 years old is remarkable, as this mutation has been described only in salt‐wasting patients. In our study, this mutation caused a urogenital sinus in three out of seven cases, whereas in the remaining cases the labia were at least partially fused. This mutation caused severe virilization with remarkably high serum levels of renin. We found one novel substitution in intron 2 (IVS2 ‐ 37A > G), containing the branch site, which is likely to affect the CYP21‐enzyme. Two additional intron 2 substitutions were discovered, which are supposed to affect the 21‐hydroxylase (i.e. IVS2 + 33A > C and IVS2 + 67C > T).Conclusion We conclude that a correlation exists between the concentration of androgens and the extent of virilization. However, there was no clear correlation between genotype and phenotype, except for the mutation R356W.
High prevalence of autonomous cortisol and aldosterone secretion from adrenal adenomas
Authors: Piaditis Georgios P. , Kaltsas Gregory A. , Androulakis Ioannis I. , Gouli Aggeliki , Makras Polyzois , Papadogias Dimitrios , Dimitriou Konstantina , Ragkou Despina , Markou Athina , Vamvakidis Kyriakos , Zografos Georgios , Chrousos Georgios 
Published: February 2009

SummaryObjectives  Previous studies based on standard endocrine testing have shown a variable incidence of autonomous cortisol secretion (ACS) or autonomous aldosterone secretion (AAS) in patients with single adrenal adenomas (SAA). We tested whether the use of appropriate controls and modification of standard testing, aiming at eliminating interference from endogenous ACTH, reveals previously undetected subtle ACS and AAS by SAA.Design  Case control study.Patients  We investigated 151 patients with SAA and 72 matched controls with normal adrenal computerized tomography.Measurements  All participants had arterial blood pressure recorded, and serum cortisol and aldosterone measured before and after intravenous administration of 250 μg of ACTH, and following dexamethasone administration. Eighty‐three patients and all the controls had serum aldosterone and renin measured before and after saline infusion, and after a second saline infusion following dexamethasone administration.Results  Using the mean + 2 SD values obtained from controls after dexamethasone administration and saline infusion following dexamethasone administration, normal cut‐off values for cortisol (30·11 nm), aldosterone (67·59 pm), and aldosterone/renin ratio (9·74 pm/mU/l) were developed. Using these cut‐off values, the estimated incidence of ACS and AAS in patients with SAA was 56·63% and 24·10%, respectively, whereas 12·05% had autonomous secretion of both cortisol and aldosterone. Systolic and diastolic arterial blood pressure correlated significantly with the aldosterone/renin ratio following ΑCTH stimulation (P < 0·0002 and P < 0·001, respectively), and after saline infusion following dexamethasone administration (P < 0·003 and P < 0·002, respectively).Conclusions  By applying new cut‐offs, ACS and AAS in patients with a SAA is very common, and aldosterone secretion correlates with arterial blood pressure.
How do you initiate oestrogen therapy in a girl who has not undergone puberty?
Authors: Hindmarsh Peter C. 
Published: February 2009

SummaryThe physiology of puberty needs to be taken into consideration in the induction of puberty. Puberty is a relatively slow process and replacement therapy should mimic this. Long‐term maintenance requires careful monitoring and long‐term assessment of risk‐benefit. This has not been appreciably defined in the adolescent population. Options for fertility need careful consideration and may depend on the adequacy of pubertal induction in terms of uterine development. A number of regimens are available for pubertal induction but the lack of comparisons makes it difficult to advocate for a particular regimen. There remain a number of areas of uncertainty, and future studies need to consider these issues and whether there are cardiovascular risk factor advantages to certain preparations. The long‐term risks of breast and gynaecological malignancy remain uncertain. Long‐term cohort studies are required to address these issues.
Measurement of information and communication technology experience and attitudes to e‐learning of students in the healthcare professions: integrative review
Authors: Wilkinson Ann , While Alison E. , Roberts Julia 
Published: February 2009

AbstractTitle.  Measurement of information and communication technology experience and attitudes to e‐learning of students in the healthcare professions: integrative review. Aim.  This paper is a report of a review to describe and discuss the psychometric properties of instruments used in healthcare education settings measuring experience and attitudes of healthcare students regarding their information and communication technology skills and their use of computers and the Internet for education.Background.  Healthcare professionals are expected to be computer and information literate at registration. A previous review of evaluative studies of computer‐based learning suggests that methods of measuring learners’ attitudes to computers and computer aided learning are problematic.Data sources.  A search of eight health and social science databases located 49 papers, the majority published between 1995 and January 2007, focusing on the experience and attitudes of students in the healthcare professions towards computers and e‐learning.Review methods.  An integrative approach was adopted, with narrative description of findings. Criteria for inclusion were quantitative studies using survey tools with samples of healthcare students and concerning computer and information literacy skills, access to computers, experience with computers and use of computers and the Internet for education purposes.Results.  Since the 1980s a number of instruments have been developed, mostly in the United States of America, to measure attitudes to computers, anxiety about computer use, information and communication technology skills, satisfaction and more recently attitudes to the Internet and computers for education. The psychometric properties are poorly described.Conclusion.  Advances in computers and technology mean that many earlier tools are no longer valid. Measures of the experience and attitudes of healthcare students to the increased use of e‐learning require development in line with computer and technology advances.
Doctors’ assistants’ views of case management to improve chronic heart failure care in general practice: a qualitative study
Authors: Olbort Rebecca , Mahler Cornelia , Campbell Stephen , Reuschenbach Bernd , Müller‐Tasch Thomas , Szecsenyi Joachim , Peters‐Klimm Frank 
Published: February 2009

AbstractTitle.  Doctors’ assistants’ views of case management to improve chronic heart failure care in general practice: a qualitative study. Aim.  This paper is a report of a study to explore the views, concerns and experiences of doctors’ assistants of case management for patients with chronic heart failure, while experiencing the new role of being a case manager within the Heidelberg Integrated Case Management trial.Background.  Case management is being investigated as part of a randomised controlled trial aiming to improve care for patients with chronic systolic heart failure. In a complex, multifaceted intervention, trained doctors’ assistants (equivalent to a nursing role) adopted new tasks using standardised case management involving telephone monitoring, home visits and diagnostic screening.Method.  In April 2007, 3 months after implementation of the intervention programme, 27 doctors’ assistants participated in four focus group interviews discussing their views on, and experiences of, case management. Thematic analysis of the data was undertaken.Findings.  Participants believed that the most positive factors in case management were about interaction with patients, including opportunities for identifying disease and psychosocial problems. However, barriers included lack of time allocated to perform case management in addition to their normal role and poor cooperation within the practice team. According to the doctors’ assistants, the routine implementation of case management was acceptable, feasible and effective in improving the management of patients with chronic systolic heart failure.Conclusion.  Case management enhanced the role of doctors’ assistants, leading to increased awareness of the perspective of patients with chronic disease. In the wider international primary care practice nursing context, the orchestrated delegation of tasks using specific case management may be a promising strategy for improving the quality of care of chronically ill patients and enabling patient self‐management.
Predictors of critical care admission in emergency department patients triaged as low to moderate urgency
Authors: Considine Julie , Thomas Shane , Potter Robyn 
Published: February 2009

AbstractTitle.  Predictors of critical care admission in emergency department patients triaged as low to moderate urgency. Aim.  This paper is a report of a study to identify predictors of critical care admission in emergency department patients triaged as low to moderate urgency that may be apparent early in the emergency department episode of care.Background.  Observations of clinical practice show that a number of emergency department patients triaged as low to moderate urgency require critical care admission, raising questions about the relationship between illness severity and physiological status early in the emergency department episode of care.Methods.  A retrospective case control design was used. All participants were aged over 18 years, triaged to Australasian Triage Scale categories 3, 4 or 5, and attended emergency department between 1 July 2004 and 30 June 2005. Cases were admitted to intensive care unit or coronary care unit and controls were admitted to general medical or surgical units. Cases (n = 193) and controls (n = 193) were matched by age, gender, emergency department discharge diagnosis and triage category.Results.  Critical care admission associated with: (i) a presenting complaint of nausea, vomiting and diarrhoea (OR = 3·40, 95%CI:1·22–9·47, P = 0·019), (ii) heart rate abnormalities at triage (OR = 2·10, 95%CI:1·19–3·71, P = 0·011), (iii) temperature abnormalities at triage (OR = 2·87 95%CI:1·05–7·89, P = 0·041), (iv) respiratory rate at first nursing assessment (OR = 1·66, 95%CI:1·05–2·06, P = 0·31) or (v) heart rate abnormalities at first nursing assessment (OR = 1·57, 95%CI = 1·04−2·39, P = 0·033).Conclusion.  Derangements in temperature, respiratory rate and heart appear to increase risk of critical care admission. Further work using a prospective approach is needed to establish which physiological parameters have the highest predictive validity, the level(s) of physiological abnormality with highest clinical utility, and the optimal timing for collection of physiological data.
Nurse prescribing in dermatology: doctors’ and non‐prescribing nurses’ views
Authors: Stenner Karen , Carey Nicola , Courtenay Molly 
Published: February 2009

AbstractTitle.  Nurse prescribing in dermatology: doctors’ and non‐prescribing nurses’ views. Aim.  This paper is a report of a study conducted to explore doctor and non‐prescribing nurse views about nurse prescribing in the light of their experience in dermatology.Background.  The cooperation of healthcare professionals and peers is of key importance in enabling and supporting nurse prescribing. Lack of understanding of and opposition to nurse prescribing are known barriers to its implementation. Given the important role they play, it is necessary to consider how the recent expansion of nurse prescribing rights in England impacts on the views of healthcare professionals.Method.  Interviews with 12 doctors and six non‐prescribing nurses were conducted in 10 case study sites across England between 2006 and 2007. Participants all worked with nurses who prescribed for patients with dermatological conditions in secondary or primary care. Thematic analysis was conducted on the interview data.Results.  Participants were positive about their experiences of nurse prescribing having witnessed benefits from it, but had reservations about nurse prescribing in general. Acceptance was conditional upon the nurses’ level of experience, awareness of their own limitations and the context in which they prescribed. Fears that nurses would prescribe beyond their level of competence were expected to reduce as understanding and experience of nurse prescribing increased.Conclusion.  Indications are that nurse prescribing can be acceptable to doctors and nurses so long as it operates within recommended parameters. Greater promotion and assessment of standards and criteria are recommended to improve understanding and acceptance of nurse prescribing.
Parenting with a diagnosis bipolar disorder
Authors: Wilson Lynere , Crowe Marie 
Published: February 2009

AbstractTitle.  Parenting with a diagnosis bipolar disorder. Aim.  This paper is a report of a study of the ways in which bipolar disorder is constructed in the DSM‐IV and popular texts, and how parents who have been diagnosed as having a bipolar disorder construct their role as parent.Background.  Research into parenting and mental illness has typically taken a deficit‐based approach that focuses on the risks to children when a parent has a mental illness. Literature that considers parenting specifically in the context of bipolar disorder retains a focus on the increased risk to their children of psychopathology or psychosocial difficulties.Method.  A critical discourse analysis was conducted using interviews with five parents who had received a diagnosis of bipolar disorder. These interviews were examined in relation to the text that constructs the diagnosis of bipolar disorder (DSM‐IV) and the popular texts from which the parents drew their understandings of parenting.Findings.  The need to monitor and moderate emotions was a dominant theme that emerged from the analysis. For these parents this also involved teaching moderation to their children and monitoring it in their children’s development. The consequence of this for these parents was a heightened sense of the need for self‐surveillance.Conclusion.  The challenge for people working with parents who have been diagnosed with a bipolar disorder is to support them to feel confident in the management of their bipolar disorder and their ability to parent effectively.
An assessment of salmon farms and wild salmonids as sources of Lepeophtheirus salmonis (Krøyer) copepodids in the water column in Loch Torridon, Scotland
Authors: Penston M J , Davies I M 
Published: February 2009

AbstractWild salmonids and farmed salmon can both be sources of Lepeophtheirus salmonis (Krøyer, 1838) larvae. Farmed salmon smolts free of L. salmonis infections are stocked in sea cages and may subsequently contract L. salmonis infections, probably from wild fish. The contribution of gravid L. salmonis at Atlantic salmon, Salmo salar L., farms to populations of L. salmonis larvae in the water column has in the past been based on estimated parameters, such as louse fecundity. This present study augments these calculations by combining empirical data on densities of infective L. salmonis copepodids in the field with estimates of the number of gravid L. salmonis on farmed and wild salmonids in Loch Torridon. Data collected between 2002 and 2007 show a significant correlation between mean densities of L. salmonis copepodids recovered in the water column and the numbers of gravid L. salmonis at the local salmon farms. Generally, the farms with greatest numbers of salmon were observed to have stronger correlations with densities of copepodids in the water than the farms with fewer fish. The study suggests that louse management approaches, e.g. treatment trigger levels, need to take account of individual farm biomass, or numbers of fish. This study highlights the importance of control of L. salmonis on salmon farms for the co‐existence of both wild salmonid populations and the aquaculture industry.
The use of prevalence as a measure of lice burden: a case study of Lepeophtheirus salmonis on Scottish Atlantic salmon, Salmo salar L., farms
Authors: Baillie M , Lees F , Gettinby G , Revie C W 
Published: February 2009

AbstractThis study investigates the benefits of using prevalence as a summary measure of sea lice infestation on farmed Atlantic salmon, Salmo salar L. Aspects such as sampling effort, the relationship between abundance and prevalence arising from the negative binomial distribution, and how this relationship can be used to indicate the degree of aggregation of lice on a site at a given time point are discussed. As a case study, data were drawn from over 50 commercial Atlantic salmon farms on the west coast of Scotland between 2002 and 2006. Descriptive statistics and formal analysis using a linear modelling technique identified significant variations in sea lice prevalence across year class, region and season. Supporting evidence of a functional relationship between prevalence and abundance of sea lice is provided, which is explained through the negative binomial distribution.
Sea lice, Lepeophtheirus salmonis, transfer between wild sympatric adult and juvenile salmon on the north coast of British Columbia, Canada
Authors: Gottesfeld A S , Proctor B , Rolston L D , Carr‐Harris C 
Published: February 2009

AbstractWe examine sea lice, Lepeophtheirus salmonis, on juvenile and adult salmon from the north coast of British Columbia between 2004 and 2006 in an area that does not at present contain salmon farms. There is a pronounced zonation in the abundance of L. salmonis on juvenile pink salmon, Oncorhynchus gorbuscha, in the Skeena and Nass estuaries. Abundances in the proximal and distal zones of these estuaries are 0.01 and 0.05 respectively. The outer zones serve as feeding and staging areas for the pink salmon smolts. Returning Chinook, Oncorhynchus tshawytscha, and coho salmon, Oncorhynchus kisutch, concentrate in these areas. We collected data in 2006 to examine whether L. salmonis on returning adult salmon are an important source of the sea lice that appear on juvenile pink salmon. Nearly all (99%) of the sea lice on returning Chinook and over 80% on coho salmon were L. salmonis. Most of the L. salmonis were motile stages including many ovigerous females. There was a sharp increase in the abundance of sea lice on juvenile pink salmon smolts between May and July 2006 near the sites of adult captures. As there are no salmon farms on the north coast, few sticklebacks, Gasterosteus aculeatus, and very few resident salmonids until later in the summer, it seems that the most important reservoir of L. salmonis under natural conditions is returning adult salmon. This natural source of sea lice results in levels of abundance that are one or two orders of magnitude lower than those observed on juvenile pink salmon in areas with salmon farms such as the Broughton Archipelago.
A comparison of sea lice, Caligus rogercresseyi, fecundity in four areas in southern Chile
Authors: Bravo S , Erranz F , Lagos C 
Published: February 2009

AbstractA survey was carried out between March 2006 and February 2007 on the fecundity of Caligus rogercresseyi in four areas of Region X (Lat 42°S) in Chile. An average length of 4.83 ± 0.4 mm for gravid females and 4.78 ± 0.56 mm for males was recorded from the four areas, with no significant differences in length between sexes. Although females were largest in spring and summer, egg strings were longer and there were higher number of eggs per string in winter. The lowest salinity values were recorded in the Hornopirén area, which had the largest gravid females and the highest number of eggs per string during the study. The number of lice treatments showed no influence on the fecundity rate in the four areas. Prevalence and abundance of C. rogercresseyi were influenced by salinity and temperature.
Down syndrome: a cardiovascular perspective
Authors: Vis J. C. , Duffels M. G. J. , Winter M. M. , Weijerman M. E. , Cobben J. M. , Huisman S. A. , Mulder B. J. M. 
Published: February 2009

AbstractThis review focuses on the heart and vascular system in patients with Down syndrome. A clear knowledge on the wide spectrum of various abnormalities associated with this syndrome is essential for skilful management of cardiac problems in patients with Down syndrome. Epidemiology of congenital heart defects, cardiovascular aspects and thyroid‐related cardiac impairment in patients with Down syndrome will be discussed.
Bergmann's idiosyncratic rule: a role for fecundity selection?
Authors: THOMAS GAVIN H. 
Published: February 2009

AbstractThe negative relationship between temperature and geographical variation in body size, or Bergmann's rule, is among the most thoroughly studied ecogeographical rules, yet the pattern and process underlying it remain controversial. Bergmann's original observations were of body size clines among endotherms, but in the last 50 years there has been increasing recognition that both Bergmann's rule and its reverse occur in many ectotherm taxa. A new study of syngnathid fish by Wilson (2009) in this issue of Molecular Ecology sheds light on intriguing alternative mechanisms that may explain variation in the direction of body size clines across taxa. Wilson shows that Bergmann's rule is found in pipefish of the genus Syngnathus, but not in seahorses of the genus Hippocampus. His results suggest that polygamy in pipefish allows fecundity selection to favour large size at low temperatures, compensating for increases in brooding time.