bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal tobacco, cannabis and alcohol use during pregnancy and risk of adolescent psychotic symptoms in offspring
Authors: Zammit Stanley , Thomas Kate , Thompson Andrew , Horwood Jeremy , Menezes Paulo , Gunnell David , Hollis Chris , Wolke Dieter , Lewis Glyn , Harrison Glynn 
Published: September 2009

BackgroundAdverse effects of maternal substance use during pregnancy on fetal development may increase risk of psychopathology.AimsTo examine whether maternal use of tobacco, cannabis or alcohol during pregnancy increases risk of offspring psychotic symptoms.MethodA longitudinal study of 6356 adolescents, age 12, who completed a semi-structured interview for psychotic symptoms in the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort.ResultsFrequency of maternal tobacco use during pregnancy was associated with increased risk of suspected or definite psychotic symptoms (adjusted odds ratio 1.20, 95% CI 1.05–1.37, P = 0.007). Maternal alcohol use showed a non-linear association with psychotic symptoms, with this effect almost exclusively in the offspring of women drinking >21 units weekly. Maternal cannabis use was not associated with psychotic symptoms. Results for paternal smoking during pregnancy and maternal smoking post-pregnancy lend some support for a causal effect of tobacco exposure in utero on development of psychotic experiences.ConclusionsThese findings indicate that risk factors for development of non-clinical psychotic experiences may operate during early development. Future studies of how in utero exposure to tobacco affects cerebral development and function may lead to increased understanding of the pathogenesis of psychotic phenomena.
Pharmacogenomic perspectives on the management of mood disorders
Authors: Alarcón Renato D. 
Published: September 2009

SummaryPsychiatric pharmacogenomics is a relatively young field of clinical practice, focused on the identification of genetic profiles determining varieties of metabolic patterns that, in turn, assist in the choice of appropriate medications and their corresponding doses. In psychiatry, the mood disorders area has been the most active in trying to advance knowledge and expertise in pharmacogenomics. the cytochrome P450 system (particularly 2D6 and 2C19 enzymes and their respective codifying genes) and, more recently, serotonin transporter and receptor gene tests are among the most utilised and promising. In spite of encouraging findings, however, there are still many questions related to preciseness, scope, ethnic variations, diagnostic implications, ‘non-biological’ factors, and ethic considerations. the need of algorithms, follow-up studies, and assessment of financial impact, all listed here, require continuous and systematic research. It will not only add to the excitement of pharmacogenomics, but also to the creation of cogent evidence of its benefits.
Characteristics of patients seen by a community perinatal mental health service
Authors: Durrani Amanullah , Cantwell Roch 
Published: September 2009

Aims and MethodRecent guidelines on perinatal mental health highlight the need to predict, detect and prevent mental illness in childbearing women, but there are a limited number of studies in this field. This study describes the characteristics of 277 service users newly referred to a specialist community perinatal mental health service over 1 year, and discusses the implications for effective management of mental illness related to childbearing.ResultsThe most common diagnosis was affective disorder (51%), of which 8% had bipolar affective disorder. Almost three in five women had previous non-pregnancy-related psychiatric contact and a fourth had previous ante/postnatal psychiatric contact. More than half were on medication at conception, most commonly antidepressants (43%).Clinical ImplicationsThis study highlights the opportunities for identifying women at high risk of postnatal mental illness and the need for adequate pregnancy planning advice for women taking psychotropic medication.
Junior doctors' knowledge and practice of electrocardiographic monitoring for high-risk patients receiving antipsychotic medications
Authors: Darwiche Fai-Žaza , Ugradar Shoaib Tyi , Turner Trevor 
Published: September 2009

Aims and MethodThe risk of developing fatal tachyarrhythmias can increase in patients receiving antipsychotic medication. Two surveys were conducted, one to evaluate junior doctors' knowledge of the QTc interval and the second to investigate the experience of electrocardiographic (ECG) monitoring among patients on four acute psychiatric wards.ResultsThe first survey revealed that junior doctors were lacking in knowledge regarding the QTc interval. the second revealed that ECG monitoring of high-risk patients was inadequate. Half of the high-risk patients who required an ECG were not given one, whereas 6% who did not require one still received this investigation.Clinical ImplicationsThere is a need to increase knowledge about the cardiac risk of antipsychotic medication on psychiatric wards. Following simple recommendations could improve clinical practice.
A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia
Authors: Lietman Steven A. , Tenenbaum-Rakover Yardena , Jap Tjin Shing , Yi-Chi Wu , De-Ming Yang , Ding Changlin , Kussiny Najat , Levine Michael A. 
Published: September 2009

Context: Mutations that inactivate one allele of the gene encoding the calcium sensing receptor (CaSR) cause autosomal dominant familial hypocalciuric hypercalcemia (FHH), whereas homozygous mutations cause neonatal severe hyperparathyroidism.
Objective: We describe the identification and biochemical characterization of a novel CASR gene mutation that caused apparent autosomal recessive FHH in an extended consanguineous kindred.
Design: The study design involved direct sequence analysis of the CaSR gene, clinical and biochemical analyses of patients, and in vitro immunobiochemical studies of the mutant CaSR.
Results: A novel inactivating mutation (Q459R) was identified in exon 4 of both alleles of the CASR in the proband, who presented with asymptomatic hypercalcemia and hypocalciuria at age 2 yr. The proband’s parents were heterozygous for the Q459R mutation consistent with autosomal recessive inheritance of FHH. Among 13 family members that were studied, eight subjects were heterozygous for the Q459R mutation and five had normal genotypes. All heterozygous subjects were asymptomatic and normocalcemic apart from one subject who was mildly hypercalcemic. The Q459R mutant CaSR was normally expressed at the cell membrane but retained only 30–50% of the calcium-dependent activity of the wild-type CaSR.
Conclusion: We identified a novel loss-of-function Q459R mutation in the CASR gene that exhibits mildly reduced sensitivity to calcium and that is associated with apparent autosomal recessive transmission of FHH. This study demonstrates the importance of genetic testing in FHH to distinguish between de novo and inherited mutations of the CASR gene and assist in management decisions.
An extended kindred with familial hypocalciuric hypercalcemia possessed a novel inactivating mutation of the CaSR with highly variable biochemical phenotypes and apparent autosomal recessive inheritance.
The early results of joint-sparing proximal tibial replacement for primary bone tumours, using extracortical plate fixation
Authors: Spiegelberg B. G. I. , Sewell M. D. , Aston W. J. S. , Blunn G. W. , Pollock R. , Cannon S. R. , Briggs T. W. R. 
Published: September 2009

This paper describes the preliminary results of a proximal tibial endoprosthesis which spares the knee joint and enables retention of the natural articulation by replacing part of the tibial metaphysis and diaphysis. In eight patients who had a primary malignant bone tumour of the proximal tibia, the distal stem, which had a hydroxyapatite-coated collar to improve fixation, was cemented into the medullary canal. The proximal end had hydroxyapatite-coated extracortical plates which were secured to the remaining proximal tibial metaphysis using cortical screws. The mean age of the patients at operation was 28.9 years (8 to 43) and the mean follow-up was for 35 months (4 to 48). The mean Musculoskeletal Tumour Society score was 79% (57% to 90%), the mean Oxford Knee score was 40 points of 48 (36 to 46) and the mean knee flexion was 112° (100° to 120°). In one patient, revision to a below-knee amputation through the prosthesis was required because of recurrence of the tumour. Another patient sustained a periprosthetic fracture which healed with a painful malunion. This was revised to a further endoprosthesis which replaced the knee. In the remaining six patients the prosthesis allowed preservation of the knee joint with good function and no early evidence of loosening. Further follow-up is required to assess the longevity of these prostheses.
Non-invasive extendible endoprostheses for limb reconstruction in skeletally-mature patients
Authors: Sewell M. D. , Spiegelberg B. G. I. , Hanna S. A. , Aston W. J. S. , Meswania J. M. , Blunn G. W. , Henry C. , Cannon S. R. , Briggs T. W. R. 
Published: September 2009

We describe the application of a non-invasive extendible endoprosthetic replacement in skeletally-mature patients undergoing revision for failed joint replacement with resultant limb-length inequality after malignant or non-malignant disease. This prosthesis was developed for tumour surgery in skeletally-immature patients but has now been adapted for use in revision procedures to reconstruct the joint or facilitate an arthrodesis, replace bony defects and allow limb length to be restored gradually in the post-operative period. We record the short-term results in nine patients who have had this procedure after multiple previous reconstructive operations. In six, the initial reconstruction had been performed with either allograft or endoprosthetic replacement for neoplastic disease and in three for non-neoplastic disease. The essential components of the prosthesis are a magnetic disc, a gearbox and a drive screw which allows painless lengthening of the prosthesis using the principle of electromagnetic induction. The mean age of the patients was 37 years (18 to 68) with a mean follow-up of 34 months (12 to 62). They had previously undergone a mean of six (2 to 14) open procedures on the affected limb before revision with the non-invasive extendible endoprosthesis. The mean length gained was 56 mm (19 to 107) requiring a mean of nine (3 to 20) lengthening episodes performed in the outpatient department. There was one case of recurrent infection after revision of a previously infected implant and one fracture of the prosthesis after a fall. No amputations were performed. Planned exchange of the prosthesis was required in three patients after attainment of the maximum lengthening capacity of the implant. There was no failure of the lengthening mechanism. The Mean Musculoskeletal Tumour Society rating score was 22 of 30 available points (18 to 28). The use of a non-invasive extendible endoprosthesis in this manner provided patients with good functional results and restoration of leg-length equality, without the need for multiple open lengthening procedures.
The management of Charcot joint disease affecting the ankle and foot by arthrodesis controlled by an Ilizarov frame
Authors: El-Gafary K. A. M. , Mostafa K. M. , Al-adly W. Y. 
Published: September 2009

Charcot osteoarthropathy of the foot is a chronic and progressive disease of bone and joint associated with a risk of amputation. The main problems encountered in this process are osteopenia, fragmentation of the bones of the foot and ankle, joint subluxation or even dislocation, ulceration of the skin and the development of deep sepsis. We report our experience of a series of 20 patients with Charcot osteoarthropathy of the foot and ankle treated with an Ilizarov external fixator. The mean age of the group was 30 years (21 to 50). Diabetes mellitus was the underlying cause in 18 patients. Five had chronic ulcers involving the foot and ankle. Each patient had an open lengthening of the tendo Achillis with excision of all necrotic and loose bone from the ankle, subtalar and midtarsal joints when needed. The resulting defect was packed with corticocancellous bone graft harvested from the iliac crest and an Ilizarov external fixator was applied. Arthrodesis was achieved after a mean of 18 weeks (15 to 20), with healing of the skin ulcers. Pin track infection was not uncommon, but no frame had to be removed before the arthrodesis was sound.Every patient was able to resume wearing regular shoes after a mean of 26.5 weeks (20 to 45).
The effect of obesity on the mid-term survival and clinical outcome of cementless total hip replacement
Authors: Jackson M. P. , Sexton S. A. , Yeung E. , Walter W. L. , Walter W. K. , Zicat B. A. 
Published: September 2009

The outcome of total hip replacement (THR) is potentially affected by the body mass index (BMI) of the patient. We studied the outcome of 2026 consecutive primary cementless THRs performed for osteoarthritis. The mean follow-up was 6.3 years (0 to 11.71) and no patient was lost to follow-up for survival analysis. The patients were divided into two groups according to their BMI as follows: non-obese (BMI < 30 kg/m2) and obese (BMI ≥ 30 kg/m2). The obese patient undergoing surgery was found to be significantly younger (p < 0.001). The log-rank test for equality of survival showed no difference in the mid-term survival (p = 0.552) with an estimated survival at 11 years of 95.2% (95% CI 92.5 to 98.0) in the non-obese and 96.7% (95% CI 94.9 to 98.5) in the obese groups. The clinical and radiological outcome was determined in a case-matched study performed on 134 obese individuals closely matched with 134 non-obese controls. The non-obese group was found to have a significantly higher post-operative Harris hip score (p < 0.001) and an increased range of movement, but overall satisfaction with surgery was comparable with that of the obese patients. Radiological analysis of the acetabular and femoral components showed no significant differences with regard to radiolucent lines, osteolysis, ingrowth of the femoral component, the acetabular inclination angle or alignment of the femoral component. Our results suggest that the survival of cementless THR is not adversely affected by obesity. Obese patients can therefore be counselled that despite a lower clinical score, they should expect to be satisfied with the result of their THR with a mid-term survival rate equivalent to that of non-obese patients.
Wrong-site surgery in orthopaedics
Authors: Robinson P. M. , Muir L. T. 
Published: September 2009

Procedures performed at the incorrect anatomical site are commonly perceived as being relatively rare. However, they can be a devastating event for patients and doctors. Evidence from the United Kingdom and North America suggests that wrong-site, wrong-procedure and wrong-patient events occur more commonly than we think. Furthermore, their incidence may be increasing as NHS Trusts increase the volume and complexity of procedures undertaken in order to cope with increasing demands on the system. In previous studies from North America orthopaedic surgery has been found to be the worst-offending specialty. In this paper we review the existing literature on wrong-site surgery and analyse data from the National Patient Safety Agency and NHS Litigation Authority on 292 cases of wrong-site surgery in England and Wales. Orthopaedic surgery accounted for 87 (29.8%) of these cases. In the year 2006 to 2007, the rate of wrong-site surgery in England and Wales was highest in orthopaedic surgery, in which the estimated rate was 1:105 712 cases.
‘You didn't take Lucy's skirt off’: The effect of misleading information on omissions and commissions in children's memory reports
Authors: Otgaar Henry , Candel Ingrid , Smeets Tom , Merckelbach Harald 
Published: September 2009

Purpose. The current study explored how misleading information affects children's omissions and commissions over time.Method. Fifty‐nine younger (Mage = 4.16) and fifty‐nine older (Mage = 9.44) children were instructed to remove three pieces of clothing from a puppet. Half of them were provided with false evidence that they had removed only two items, while the other half were provided with false evidence that they had removed a fourth piece of clothing. In three neutral interviews separated by 1‐week intervals, children had to report which pieces of clothing they had removed.Results. Overall, omission and commission errors significantly decreased over time, although this pattern was more pronounced for omission errors. Younger and older children were equally likely to make omission errors, whereas commission errors were more typical for younger than for older children. Also, we found that commission errors more readily occur than omission errors.Conclusion. Even when children's memory reports pertain to an event in which they actively participated, misleading information may elicit omission and commission errors, with especially the latter category being very persistent over time.
Assessing trait memory distrust: Psychometric properties of the Squire Subjective Memory Questionnaire
Authors: van Bergen Saskia , Brands Ineke , Jelicic Marko , Merckelbach Harald 
Published: September 2009

Purpose. When people suffer from memory distrust, they evaluate their memory in negative terms. Memory distrust plays an important role in police interrogations because it may underlie false confessions. The Squire Subjective Memory Questionnaire (SSMQ) intends to be a simple measure of trait memory distrust. To our knowledge, no data have been published about the psychometric properties of the SSMQ.Methods. Relying on five samples (Ns = 70–819) of healthy individuals and patients, we studied the psychometric characteristics of the SSMQ. Participants were recruited at the university, a neuropsychological unit or through advertisements in newspapers. They were asked to complete the SSMQ and several other tests. In this way, reliability and validity parameters could be assessed.Results. Principle component analysis showed that the SSMQ has a one‐dimensional structure referring to subjective memory evaluation. The SSMQ was found to have adequate reliability and good construct validity. Furthermore, it appears to correlate in a theoretically meaningful way with age and cognitive failures.Conclusions. All together, the SSMQ is a psychometrically sound screening tool that can be helpful in assessing subjective memory evaluations in the legal domain. In this way, vulnerable suspects can be identified in an early stage.
Examination of the stability and consistency of investigative interviewer performance across similar mock interview contexts
Authors: Powell Martine B. , Hughes‐Scholes Carolyn H. , Cavezza Cristina , Stoové Mark A. 
Published: September 2009

Purpose. Three studies examined the degree to which investigative interviewers' adherence to best‐practice guidelines is consistent across similar mock interviews.Method. In each study, two interviews were administered within a period of several hours. Further, group and individual stability of interviewer performance was analysed, and performance was measured by calculating the proportion of open‐ended and leading questions as well as the presence of predetermined problem behaviours. The studies varied depending on the type of interview paradigm employed. Interviewer performance in Study 1was measured in a group context where participants rotated between the role of interviewer, child respondent, and observer. In Study 2, an adult played the role of a child recalling abuse but this occurred in isolation (participants did not observe others or play the child). Study 3 was similar to Study 2 except that in each interview an unfamiliar child aged 5–7 years recalled an innocuous event.Results. Interviewer performance was relatively stable across tasks, although the strength of the relationship between measures varied across analyses. Improvement in open‐ended question usage occurred in Study 1 but not Studies 2 and 3. Irrespective of the assessment context, the dichotomous rating scale yielded greater consistency than when questions were tallied. Further, group stability overestimated individual stability. The practical implications of these findings for trainers and researchers are discussed.
Proxy Healthcare Decision-Making for Persons With Intellectual Disability: Perspectives of Residential-Agency Directors
Authors: Fisher Kathleen M. , Orkin Fredrick K. , Green Michael J. , Chinchilli Vernon M. , Bhattacharya Anand 
Published: September 2009

Abstract
Directors of residential agencies for persons with intellectual disability in one U.S. state completed a self-administered, mailed survey to assess relative importance of information sources and decision factors in proxy healthcare decision-making. The most important sources were physician recommendations and input from the person; family input, care staff recommendations, and medical records were less valued. The person's wishes and best interests and recommendations of medical experts were the most important decision factors. Less important were benefits and risks of the intervention, family wishes, and health status; little emphasis was accorded to religious affiliation and extra cost to agency. More research is needed on how best to elicit the wishes and determine what constitutes the “best interests” of these vulnerable individuals.
Limitations in Life Participation and Independence Due to Secondary Conditions
Authors: Koritsas Stella , Iacono Teresa 
Published: September 2009

AbstractThe effects of secondary conditions across adults with autism, Down syndrome, and cerebral palsy were explored in terms of overall limitation in life participation and independence, changes over time, and the degree and nature of limitation in specific secondary conditions. Information was obtained for 35 adults with autism, 49 with Down syndrome, and 29 with cerebral palsy (N  =  113). Caregivers completed a questionnaire exploring secondary conditions on two occasions. Participants with cerebral palsy experienced the greatest overall limitations of the three groups. This finding is due to several secondary conditions. There were no changes in limitation scores over time. Implications related to health care for these groups are discussed.