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Parents' experiences of receiving the diagnosis of Turner syndrome: an explorative and retrospective study.

Turner syndrome (TS) is a sex-chromosome disorder occurring in approximately 1:2500 female births. In this explorative and retrospective study, 44 parents (33 mothers and 11 fathers) from different families, each containing a girl with TS, were interviewed to explore their perceptions and experiences of the diagnostic process, including the period of investigation and the time when the diagnosis was given. There was wide variation in degree of retrospection in this study; one parent who was interviewed had a daughter of 17 years of age who was diagnosed before 1 month of age. On the other hand, two girls had been diagnosed only 6 months before their parents were interviewed. Most parents (n=27) reported that it was professionals who observed that their daughter should be referred for investigation, and the remainder (n=17) reported that they themselves perceived the need for investigation. Their experiences were found to affect the parents' descriptions of the diagnostic process. The parents who initiated the investigation themselves described the diagnosis in terms of confirmation of their own suspicions. When professionals initiated the investigation the parents reported that they felt unprepared when they received the diagnosis. The results of this study indicate that the parents' experiences of receiving the diagnosis of TS appear to depend on the ability of the doctor to provide relevant information and to manage the psychosocial aspects correctly. A better understanding of parents' experiences should enable health professionals to counsel parents more effectively concerning the diagnosis of TS.

Adaptation, Psychological↗

[Magnetic resonance in osteoarticular exploration].

A major role in imaging of the locomotor apparatus. Today, magnetic resonance imaging (MRI) has replaced invasive explorations such as arthrography or saccoradiculography. However, x-rays and scans must often be performed beforehand. Indisputable indications. MRI is crucial in affections of the spongy bone (tumours, osteonecrosis, algodystrophy, fatigue fractures.) and the soft parts (tumours, myositis, fasciitis.). Depending on the situation. The indications for MRI must be weighed versus a scan or arthro-scan in many situations. In the case of strong suspicion of an internal articular disorder, the arthro-scan currently more precise must be preferred. In cases in which there is little clinical orientation, the MRI is justified because of its capacity for global articular and abarticular exploration.

Ankle Joint↗

[Non-invasive explorations in arteriopathy of the lower limbs].

FOR THE DIAGNOSIS OF AN ARTERIOPATHY: The approach is basically clinical, and vascular explorations are represented by the measurement of ankle blood pressure and calculation of the pressure index, a simple test that should systematically complete the examination. THE SEARCH FOR LOCAL LESIONS OF POTENTIALLY POOR PROGNOSIS: These are principally aneurysm and stenosis of the derivation routes that should be searched for using a Doppler in order to localise them and, completed by measurement of ankle blood pressure, specify the upstream impact and the ultrasound-Doppler analysis of certain selected areas. BEFORE REVASCULARISATION: The arteriography, examination of reference until recently, has certain limits that explain its more restricted use and the widened use of ultrasound-Doppler explorations, combined with magnetic resonance imaging and scanning.

Angiography↗

Expression of c-Fos, ICER, Krox-24 and JunB in the whisker-to-barrel pathway of rats: time course of induction upon whisker stimulation by tactile exploration of an enriched environment.

Modified tactile information has been shown to induce adaptive plasticity in the somatosensory cortex of rat. The cellular mechanisms resulting in plastic neuronal responses, however, are largely unknown. Inducible transcription factors have been proposed as one major link in the cascade from modified input to altered neuronal structure and function. We investigated the spatial and temporal patterns of transcription factor induction in the rat whisker-to-barrel pathway by placing the animals in a novel, enriched environment while having clipped sets of whiskers on one side of the face. Such stimulation resulted not only in a specific c-Fos induction in brainstem barrelettes and thalamic barreloids, but also in the barrel-related cortical columns, each with different time courses. In the barrel cortex, c-Fos and Krox-24 immunostaining showed a rapid induction with peak levels at 1 h and a return to basal levels after 14 h. JunB was induced after 1 h of exploration, declined at 6 h and returned to basal levels after this time point. The inducible cyclic AMP early repressor (ICER), a transcription factor of the cAMP signaling pathway, showed a maximum after 6 h, decreased slowly, but elevated levels were still detectable after 5 days. Our data demonstrate that upon whisker stimulation by exploration of a novel, enriched environment, (i) subcortical relay stations in the whisker-to-barrel pathway are able to express elevated levels of c-Fos and (ii) in the barrel cortex c-Fos, JunB, Krox-24 and ICER are differentially regulated in the temporal domain.

Animals↗

Viewer- and object-centered mental explorations of an imagined environment are not equivalent.

In this study we compared viewer-centered (VC) with object-centered (OC) mental exploration of an imagined clock drawn on the ground. An upper case F portrayed on a computer screen was to be imagined standing up in the center of the clock. In Expt. 1, an adjustment task was used to verify that the discrimination of clock directions rendered by this perspective drawing was quite accurate. Precision was not affected by the imaginary size of the clock. In Expt. 2, subjects either (1) indicated the clock location pointed by the F given their viewing position (VC condition), or (2) their location at the periphery of the clock given the location pointed by the F (OC condition). Response latencies were proportional to the explored imaginary distance and increased with the size of the imagined environment. We found an additional mean processing time of at least 2 s in the OC condition with respect to the VC condition. Results are interpreted within Kosslyn's (Kosslyn, S.M., A cognitive neuroscience of visual cognition: further developments. In: R.H. Logie and M. Denis (Eds.), Mental Images in Human Cognition, Elsevier Science Publishers, Amsterdam, 1991, pp. 351-381 [17]) framework of cognitive neuroscience.

Adult↗

Response shift in the perception of health for utility evaluation. an explorative investigation.

We previously showed that patients with newly diagnosed colon cancer change the internal standards on which they base their quality of life estimation. In the present investigation, we explored whether this response shift similarly affects the perception of health for utility evaluation in cancer clinical trials. After radical resection of adenocarcinoma of the colon (pT1-4 pN>0 M0 and pT3-4 pN0 M0) and perioperative chemotherapy, patients were randomised to three treatment arms: observation only (A), 5-fluorouracil (5-FU) 450 mg/m(2) plus levamisol (B), or 5-FU 600 mg/m(2) (C). Subjective health was assessed by a linear analogue self-assessment (LASA) scale anchored at 'perfect health-worst health' developed for serial assessment of utility values (Hürny C, van Wegberg B, Bacchi M, et al. Subjective health estimations (SHE) in patients with advanced breast cancer: an adapted utility concept for clinical trials. Br J Cancer 1998, 77, 985-991). Patients estimated their pre-surgery health among various quality of life indicators both before surgery and retrospectively thereafter, and their pre-adjuvant health both at the beginning of randomly assigned chemotherapy or observation and retrospectively approximately 2 months later. Thereafter, current subjective health was assessed. Paired t-tests were used to test the hypotheses of no change. Patients' estimated pre-surgery health was worse after surgery than before (n=127, mean change=-6.7, standard deviation (S.D.)=30, P=0.01), and their estimated pre-adjuvant health was worse under treatment or observation than at the beginning (n=132, mean change=-7.1, S.D.=23.8, P=0.001), in agreement with the quality of life indicators. Chemotherapy had no impact on these changes attributed to a response shift. Conventionally assessed changes between the beginning of adjuvant treatment or observation and 2 months later indicated no change in subjective health. Change scores relative to patients' retrospective estimation revealed an improvement (n=122, mean change=6.6, S.D.=24.8, P=0.004) in this period. Patients with colon cancer substantially reframe their internal standard of health as they do for quality of life. This explorative finding questions the assumption, generally made in decision models, that health estimates for utility evaluation are independent of time. Given that patients may change their standards, comparisons of health estimates across different populations and clinical situations are to be interpreted with caution.

Adenocarcinoma↗

Exploring the expanded role of nurses in critical care.

This paper reports on a small research study that explored the perceptions of staff in an intensive/coronary/high-dependency care unit on the expanded role of nurses in critical care. The research was undertaken in two phases. In the first phase, focus groups and interviews of nursing and medical staff were used as methods to explore their perceptions. Data were analysed by thematic content analysis and generated four categories: specialized skills; maintaining competence; how far nurses can go; and training and education. Using verbatim examples from the participants, these categories are described. In summary, it was found that both doctors and nurses were in favour of nursing role developments, and for the nurses this was driven by their desire to meet the patients' needs. In a smaller second phase, a questionnaire was developed based on information gained in the first phase. It was utilized to seek the views of all the nursing staff on specific role-expansion activities. Findings revealed substantial support for developing the role of critical care nurses in a number of activities: cannulation; venepuncture; ordering blood tests and X-rays; performing physiotherapy; inserting arterial lines; performing elective cardioversion; thrombolysis treatment and intubation. This research study has yielded important information. However, it is recognized that, whilst these roles may be new to this particular critical care unit, there are many other units where they may already be common practice. Whenever new roles are developed, it is important to evaluate their effectiveness in measurable terms and regular audit is advisable. Further research is therefore recommended on both the development and evaluation of new roles in critical care.

Attitude of Health Personnel↗

Exploring women's needs in an Amazon region of Ecuador.

This study broadly explored women's perceptions of their most pressing problems and needs in the mostly rural Amazonian province of Orellana in Ecuador in mid-2000. In-depth interviews with community women and health and social service providers used two rapid structured, qualitative methods--free-listing and pile-sorting--to explore the 'insider's' perspective, with the participation of local organisations, and generated discussion on the emerging issues, giving an opportunity for action aimed at improving women's situation. Unequal gender relations, subordination of women, economic problems, men drinking too much and domestic violence were identified as the most pressing concerns. Several reproductive and sexual health problems were also identified and information about others elicited. This paper describes the methodology used in the research, reports on the 20 most cited problems and looks more closely at the findings in relation to violence against women, lack of access to contraception and ambiguities arising from the need to resort to clandestine abortion. Despite the existence of innovative national policies related to domestic violence and reproductive health, there is a scarcity of resources and poor infrastructure in Orellana. Patronising attitudes on the part of health service staff also greatly limit women's access to reproductive and sexual health services.

Abortion, Induced↗

Exploration of the dopamine transporter: in vitro and in vivo characterization of a high-affinity and high-specificity iodinated tropane derivative (E)-N-(3-iodoprop-2-enyl)-2beta-carbomethoxy-3beta-(4'-m ethylph enyl)nortropane (PE2I).

For the diagnosis and follow-up of neurodegenerative diseases, many cocaine derivatives have been proposed as radioligands to explore the dopamine transporter. As none of them have all the criteria of specificity and kinetics for human use, we have developed a new derivative, (E)-N-(3-iodoprop-2-enyl)-2beta-carbomethoxy-3beta-(4'-methy lphenyl)nortropane (PE2I), which displays promising properties. We report the characterization of PE2I in vitro on rat striatal membranes and in vivo in rats and in monkeys. PE2I had a high affinity (Kd = 0.09 +/- 0.01 nM) and high specificity for the dopamine transporter. In rats we observed a high accumulation in the striatum; by contrast, a very low fixation was measured in the cortex. Moreover, a preinjection of a saturating dose of GBR 12909 prevented the striatal accumulation of PE2I by 74%. These results confirmed the specificity of PE2I for the dopamine transporter. In vivo in monkeys, SPECT studies showed a high accumulation in striatum. Moreover, an equilibrium state was obtained 1 h after injection. PE2I seemed to be the most promising ligand for the dopamine transporter exploration by SPECT using a single-day protocol.

Animals↗

Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin.

Neuroserpin is a neural serpin that inhibits the extracellular protease tissue-type plasminogen activator (tPA). We have generated neuroserpin-deficient mice which are viable and healthy. Zymographic analysis of neuroserpin-deficient brain showed unaltered tPA activity, suggesting that other inhibitors contribute to the regulation of tPA and may compensate for the defect. Analysis of explorative behavior revealed selective reduction of locomotor activity in novel environments, an anxiety-like response on the O-maze, and a neophobic response to novel objects. Mice overexpressing neuroserpin under the control of the Thy1.2 promoter are known to have a reduced brain tPA activity. They showed reduced center exploration in the open-field test and, like neuroserpin-deficient mice, a neophobic phenotype in the novel object test. Our results implicate neuroserpin in the regulation of emotional behavior through a mechanism that is at least in part independent of tPA activity. They are the first evidence for a role of protease inhibitors in mood regulation.

Affect↗

Common bile duct exploration and laparoscopic cholecystectomy: role of intraoperative ultrasonography.

BACKGROUND: In October 1993, to detect associated common bile duct (CBD) stones, we started an evaluation program of patients with symptomatic cholelithiasis who were candidates for laparoscopic cholecystectomy. STUDY DESIGN: We used a standard preoperative algorithm and a laparoscopic ultrasonographic (LUS) examination. Preoperative endoscopic retrograde cholangiopancreatography (ERCP) was reserved for high-risk patients for CBD stones. Laparoscopic ultrasonographic examination during cholecystectomy was routinely performed to identify stones unsuspected preoperatively. Two-hundred-sixteen patients with symptomatic cholelithiasis were included in the study; 177 patients (82%) were at low risk for choledocholithiasis and 39 patients (18%) were at high risk and had preoperative ERCP. In 17 patients (43.5%) CBD stones were found, and in 16 patients (41%) they were removed by endoscopic sphincterotomy. RESULTS: In all patients, the main intra- and extrahepatic ducts were well documented by LUS, but in eight cases the distal tract of the CBD was not well-visualized. In eight patients, small stones were found in the CBD. A subsequent peroperative cholangiography or CBD exploration confirmed the diagnosis. In one patient, both LUS and cholangiography suspected a small stone; the CBD exploration did not confirm it (false positive). In two patients a small stone in the CBD was found during the followup period (two false negatives). An endoscopic sphincterotomy solved the problem. CONCLUSIONS: Laparoscopic ultrasonographic examination may be a real alternative to cholangiography during laparoscopic cholecystectomy: this may be reserved for selected instances on the basis of LUS findings. On the other hand, considerable ultrasonographic experience is required for LUS to be performed successfully.

Algorithms↗

Exploring the impact of different thioesterase domains for the design of hybrid peptide synthetases.

BACKGROUND: A large number of pharmacologically important peptides are synthesized by multifunctional enzymes, the nonribosomal peptide synthetases (NRPSs). The thioesterase (Te) domain at the C-terminus of the last NRPS catalyzes product cleavage by hydrolysis or complex macrocyclization. Recent studies with excised Te domains and peptidyl-S-N-acetyl cysteamine substrate substitutes led to substantial insights in terms of cyclization activity and substrate tolerance of these enzymes. Their use in engineered hybrid NRPSs is an interesting but yet only little explored target for approaches to achieve new structural diversity and designed products. RESULTS: To study the capability of various Te domains to function in hybrid NRPSs, six different Te domains that catalyze different modes of termination in their natural systems were fused to a bimodular model NRPS system, consisting of the first two modules of tyrocidine NRPS, TycA and ProCAT. All Te domains were active in hydrolyzing the enzymatically generated dipeptide substrate D-Phe-Abu from the NRPS template with, however, greatly varying turnover rates. Two Te domains were also capable of hydrolyzing the substrate D-Phe-Pro and partially cyclized the D-Phe-Abu dipeptide, indicating that in an artificial context Te domains may display hydrolytic and cyclization activities that are not easily predictable. CONCLUSIONS: Te domains from heterologous NRPSs can be utilized for the construction of hybrid NRPSs. This is the first comparative study to explore their influence on the product pattern. The inherent specificity and regioselectivity of Te domains should allow control of the desired product cleavage, but can also lead to other modes of termination potentially useful for generating structural diversity. Our results provide the first data for choosing the proper Te domain for a particular termination reaction.

Chromatography, High Pressure Liquid↗

Stigmatization, HIV/AIDS, and communities of color: exploring response to human service facilities.

HIV and AIDS are rapidly becoming leading causes of death for men and women in large cities across the US. Epidemiological data indicate that persons of color in particular have been disproportionately affected by HIV/AIDS. The continuing growth in the incidence of HIV/AIDS among persons of color implies that human service facilities will be needed in close proximity. However, there has been little research exploring response to human service facilities associated with HIV/AIDS in communities of color. This paper explores community response to facilities associated with HIV/AIDS by analyzing in-depth interviews with fifteen Vietnamese and Latino/Latina informal opinion leaders in Orange County, California. These interviews indicate that the stigma surrounding HIV/AIDS emanates to a large degree from the social construction of "HIV/AIDS as homosexuality". Even with the deviance and marginalization associated with HIV/AIDS, however, creative coping strategies have been developed by families within the Latino and Vietnamese communities to enable the maintenance of family ties with persons living with HIV/AIDS.

Acquired Immunodeficiency Syndrome↗

N30 and the effect of explorative finger movements: a model of the contribution of the motor cortex to early somatosensory potentials.

OBJECTIVES: The source of the N30 potential in the median nerve somatosensory evoked potentials (SEP) has been previously attributed to a pre-central origin (motor cortex or the supplementary motor area, SMA) or a post-central located generator (somatosensory cortex). This attribution was made from results of lesion studies, the behavior of the potential under pathological conditions, and dipole source localization within spherical volume conductor models. METHODS: The present study applied dipole source localization and current density reconstruction within individual realistically shaped head models to median nerve SEPs obtained during explorative finger movements. RESULTS: The SEPs associated with movement of the stimulated hand showed a minor reduction of the N20 amplitude and a markedly reduced amplitude for the frontal N30 and parietal P27, exhibiting a residual frontal negativity around 25 ms. The brain-stem P14 remained unchanged. Mapping of the different SEPs (movement of the non-stimulated hand minus movement of the stimulated hand) showed a bipolar field pattern with a maximum around 30 ms post-stimulus. In eight out of ten normal subjects, both the N30 and the gN30 (subtraction data) sources resided within the pre-central gyrus, more medially than the post-centrally located N20. Two subjects, in contrast, showed rather post-centrally localized sources in this time range. A model of the cortical SEP sources is introduced, explaining the data with respect to previously described findings of dipole localization, and from lesion studies and the alterations seen in motor diseases. CONCLUSIONS: The results provide evidence for a pre-central N30 generator, predominantly tangentially oriented, located within the motor cortex, while no sources were detected elsewhere. It is suggested that the mechanisms underlying the 'gating' effect during explorative finger movements in the 30 ms time range predominantly arise in the motor cortex.

Adult↗

Too hot to trot? Exploring potential links between climate change, physical activity and health.

Based on an analysis of existing literature, this paper explores the links between climate change, physical activity and health. It highlights the importance of physical activity for health, explores current understandings of factors influencing participation in sport and physical activity, and develops some hypotheses about the ways in which climate change may impact on the factors influencing physical activity and thereby on the level of participation in physical activity. The paper argues that climate change has the potential to be a barrier to participation in physical activity, particularly in areas where temperatures are already relatively high, and that a reduction in physical activity across the population is likely to have detrimental health impacts. The need for research to clarify the nature and extent of the threat posed to physical activity participation is highlighted, as is the need to take into account the direct and indirect costs of any changes or reductions in physical activity in any assessment of the costs of climate change and/or its mitigation.

Australia↗

Exploring the patient's experience of a day hospital chemotherapy service: preliminary fieldwork.

This paper describes some preliminary findings from a Heideggerian hermeneutic phenomenological study exploring patients' experiences of a day hospital chemotherapy service. Phenomenology has been described as both a philosophical perspective and a research method. Following a review of the literature, it was apparent that there is a paucity of qualitative studies regarding the experience of chemotherapy treatment. The aim of the study was to explore patients' experiences of receiving treatment within a day hospital setting and to compare this with previously having received treatment as an inpatient. Purposeful sampling and face-to-face interviews were conducted. Preliminary data analysis from the pilot study has identified themes for patients relating to the need to maintain hope associated with treatment; feelings of adjustment; incorporating treatment as 'part of life'; need for closure following treatment; thoughts of comradeship and sharing the experience.

Ambulatory Care Facilities↗

Cancer risk from exposure to galactic cosmic rays: implications for space exploration by human beings.

Space programmes are shifting toward planetary exploration, and in particular towards missions by human beings to the moon and Mars. However, exposure to space radiation is an important barrier to exploration of the solar system by human beings because of the biological effects of high-energy heavy ions. These ions have a high charge and energy, are the main contributors to radiation risk in deep space, and their biological effects are understood poorly. Predictions of the nature and magnitude of risks posed by exposure to radiation in space are subject to many uncertainties. In recent years, worldwide efforts have focussed on an increased understanding of the oncogenic potential of galactic cosmic rays. A review of the new results in this specialty will be presented here.

Cosmic Radiation↗

Minimally invasive exploration of the female reproductive tract in infertility.

Classically, invasive and non-invasive tests are performed to evaluate the causes of infertility. Transvaginal hydrolaparoscopy (THL) allows the exploration of the pelvic structures with a mini-endoscope, using a vaginal needle-guided trocar introduction technique and saline as a distension medium. A first study on 349 patients demonstrated the feasibility of the procedure and gave a high patient satisfaction. Access to the pouch of Douglas was achieved in 330 patients (94.5%) under local anaesthesia and in an ambulatory environment. The mean pain score measured on a visual analogue scale of 10 was 2.7, comparable to the score of mini-hysteroscopy only and significantly lower than the scores of hysterosalpingography with either metal cannula or balloon catheter. A total of 96% of the patients agreed to repeat the procedure under the same circumstances if required. The diagnostic accuracy of the technique was demonstrated in a prospective study, in which two independent endoscopists explored 10 patients with both THL and standard laparoscopy. The inter-observer agreement for ovarian adhesions was 75% for standard laparoscopy and 90% for THL. In addition, in patients with mild endometriosis, more peri-ovarian adhesions were detected with THL than with standard laparoscopy. A multinational survey to evaluate the risk and outcome of bowel injury during THL registered 24 (0.65%) cases in 3667 procedures. In all cases, the diagnosis was made immediately and the treatment was conservative without complications.

Endometriosis↗