bluuebunny/crossref_metadata_2025_split huggingface dataset:
Wolcott–Rallison syndrome with 3‐hydroxydicarboxylic aciduria and lethal outcome
Authors: Søvik O. , Njølstad P. R. , Jellum E. , Molven A. 
Published: May 2008

SummaryWolcott‐Rallison syndrome (WRS) (OMIM 226980) is a rare, autosomal recessive disorder with infancy‐onset diabetes mellitus, multiple epiphyseal dysplasia, osteopenia, mental retardation or developmental delay, and hepatic and renal dysfunction as main clinical findings. Patients with WRS have mutations in the EIF2AK3 gene, which encodes the pancreatic eukaryotic translation initiation factor 2‐alpha kinase 3. We report a female patient who developed insulin‐requiring diabetes at 2.5 months of age. Multiple epiphyseal dysplasia was diagnosed at age 2 years. At age 5.5 years she developed a Reye‐like syndrome with hypoketotic hypoglycaemia and renal and hepatic insufficiency and died. A partial autopsy showed fat infiltration in the liver and kidneys. Examination of urine by gas chromatography and mass spectrometry showed large amounts of C6‐dicarboxylic acid (adipic acid), 3‐hydroxy‐C8‐dicarboxylic acid, 3‐hydroxy‐C10‐dicarboxylic acid, and 3‐hydroxydecenedioic acid. Acetoacetate and 3‐hydroxybutyrate were absent. The findings suggested a metabolic block in mitochondrial fatty acid oxidation, but lack of material precluded enzyme analyses. The clinical diagnosis of WRS was suggested in retrospect, and confirmed by sequencing of DNA extracted from stored autopsy material. The patient was compound heterozygous for the novel EIF2AK3 mutations c.1694_1695delAT (Y565X) and c.3044T > C (F1015S). Our data suggest that disruption of the EIF2AK3 gene may lead to defective mitochondrial fatty acid oxidation and hypoglycaemia, thus adding to the heterogeneous phenotype of WRS.
Molecular analysis of the iduronate‐2‐sulfatase gene in Thai patients with Hunter syndrome
Authors: Keeratichamroen S. , Ketudat Cairns J. R. , Wattanasirichaigoon D. , Wasant P. , Ngiwsara L. , Suwannarat P. , Pangkanon S. , Kuptanon J. , Tanpaiboon P. , Rujirawat T. , Liammongkolkul S. , Svasti J. 
Published: May 2008

SummaryMolecular defects in the gene encoding the enzyme iduronate‐2‐sulfatase (IDS) result in Hunter disease (mucopolysaccharidosis type II, MPS II). To determine the molecular basis of MPS II in Thailand, the IDS gene was analysed in 20 Thai patients with Hunter syndrome from 18 unrelated families. A total of 19 different mutations, including 9 missense mutations, 3 nonsense mutations, 3 splice site alterations, 1 deletion, 2 indels, and 1 rearrangement were identified, 8 of which were novel (p.R101C, p.D148V, p.G224A, p.K227E, p.E254X, p.W337X, c.440_442delinsTT and c.720_731delinsTTTCAGATGTTCTCCCCAG). Evaluation of the IDS activity of two hemizygous variants identified in the same patient, p.R101C and p.R468Q, by expression of IDS with the individual mutations in COS 7 cells indicated that only the p.R468Q mutation affected IDS protein activity. Two exonic mutations, c.257C>T (p.P86L) and c.418G>A, were found to activate multiple cryptic splice sites, resulting in aberrantly spliced transcripts. Thus, MPS II in Thailand is caused by a diverse set of defects affecting both IDS protein production and activity.
Conidiobolus coronata granuloma of left inferior turbinate: a rare presentation
Authors: Pujary P , Pujary K , Mahesh S G , Valiathan M 
Published: May 2008

AbstractObjective:To report a rare genus of a fungal family commonly affecting the sinonasal region, which presented as a fungal granuloma of the inferior turbinate in an immunocompetent host. Such a case has not previously been reported.Case report:A 49-year-old man presented with nasal conidiobolus limited to the left inferior turbinate, despite pre-operative fungal culture and tissue biopsy being negative for any fungal growth. On computed tomography scanning of the paranasal sinuses, and peri-operatively, the left inferior turbinate was seen to be enlarged and a bony, cartilaginous spur was found to impinge deep into the inferior turbinate. The spur may have caused microtrauma suitable for spore implantation, leading to fungal granuloma development. This unusual presentation highlights the fact that excision biopsy is diagnostic and therapeutic in such cases.Conclusion:Conidiobolus coronata of the inferior turbinate is rare. Such a fungal granuloma may be large enough to be confused with a benign or malignant lesion of the nasal cavity.
The 1st international workshop on computational social choice
Authors: ENDRISS ULLE 
Published: May 2008

AbsractComputational social choice is a new discipline currently emerging at the interface of social choice theory and computer science. It is concerned with the application of computational techniques to the study of social choice mechanisms, and with the integration of social choice paradigms into computing. The first international workshop specifically dedicated to this topic took place in December 2006 in Amsterdam, attracting a mix of computer scientists, people working in artificial intelligence and multiagent systems, economists, game and social choice theorists, logicians, mathematicians, philosophers, and psychologists as participants.
Predictors of well-being in bereaved former hospice caregivers: The role of caregiving stressors, appraisals, and social resources
Authors: Burton Allison M. , Haley William E. , Small Brent J. , Finley Margaret R. , Dillinger-Vasille Marie , Schonwetter Ronald 
Published: May 2008

ABSTRACTObjective:The current literature on caregiving and bereavement indicates that the relationship between these two common life events is complex and needs to be further studied in order to gain a more comprehensive understanding of their interaction.Methods:In the current project, 50 spouses of hospice patients with end-stage lung cancer or dementia were assessed while caregiving and at an average of 4 months after the death on a variety of measures, including caregiving stressors, appraisals, social resources, and well-being. A stress process model was utilized in order to examine which preloss factors were associated with postloss depression, life satisfaction, and grief.Results:Our results indicated that patient diagnosis (cancer or dementia) and caregiver appraisals (stressfulness of functional impairment and positive aspects of caregiving) were not predictors on any of our well-being outcomes. However, fewer months caregiving was a significant predictor of both higher depression and grief postloss. Additionally, lower levels of social activities, smaller social networks, and lower satisfaction with social support were significantly associated with higher postloss depression.Significance of results:Results support both the resource depletion and anticipatory grief hypotheses and suggest that short-term bereavement outcomes are different than factors that predict well-being while caregiving. Future studies should address whether long-term bereavement outcomes differ by baseline caregiving characteristics to guide intervention research.
Erythropoietin and the endothelium – a promising link?
Authors: Fliser D. , Bahlmann F. H. 
Published: May 2008

SUMMARYThe major physiological function of erythropoietin (EPO) is thought to be the induction of erythropoiesis. However, a growing body of evidence indicates that EPO as well as recombinant human erythropoietin (rHuEPO) and its analogues have tissue‐protective effects and prevent tissue damage during ischaemia. This mini review summarizes the present knowledge on protective vascular effects of EPO and discusses the potential underlying mechanisms.
Arousal and ventilatory responses to mild hypoxia in sleeping preterm infants
Authors: VERBEEK MARJAN M. A. , RICHARDSON HEIDI L. , PARSLOW PETER M. , WALKER ADRIAN M. , HARDING RICHARD , HORNE ROSEMARY S. C. 
Published: May 2008

SummaryA failure to adequately respond to hypoxia has been implicated in the Sudden Infant Death Syndrome (SIDS). Preterm infants are at increased risk for SIDS, thus we compared ventilatory and arousal responses to mild hypoxia [15% oxygen (O2)] in preterm and term infants. Eight preterm and 15 term infants were serially studied with daytime polysomnography during which nasal airflow was monitored by pneumotachograph at 2–5 weeks, 2–3 and 5–6 months. At each age, in both groups, hypoxia induced a significant decrease in oxygen saturation (SpO2) during both active sleep (AS) and quiet sleep (QS). Infants invariably aroused in AS; and in QS either aroused or failed to arouse. In preterm infants arousal latency in AS was longer than in term infants (P < 0.05) at 2–5 weeks. Compared with term infants, preterm infants reached significantly lower SpO2 levels at 2–5 weeks in both AS and QS non‐arousing tests and at 2–3 months in QS. A biphasic hypoxic ventilatory response was observed in QS non‐arousing tests in both groups of infants at all three ages. We conclude that the greater desaturation during a hypoxic challenge combined with the longer arousal latency in preterm infants could contribute to greater risk for SIDS.
Modulatory effects of emotion and sleep on recollection and familiarity
Authors: ATIENZA MERCEDES , CANTERO JOSE L. 
Published: May 2008

SummaryGrowing evidence suggests that declarative memory benefits from the modulatory effects of emotion and sleep. The primary goal of the present study was to determine whether these two factors interact to enhance memory or they act independently of each other. Twenty‐eight volunteers participated in the study. Half of them were sleep deprived the night immediately following the exposure to emotional and non‐emotional images, whereas the control group slept at home. Their memory for images was tested 1 week later along the valence and arousal dimension of emotion with the remember–know procedure. As emotional events appear to gain preference during encoding, via the modulatory effect of amygdala on prefrontal and medial temporal lobe regions, conscious retrieval of emotional pictures (relative to neutral ones) was expected to be less disrupted by sleep loss. Results indicated that emotional images were more richly experienced in memory than neutral, particularly those with high arousal and positive valence. Even though sleep deprivation resulted in behavioral impairment at retrieval of both emotional and neutral images, results revealed that remember‐based recognition accuracy and its underlying process of recollection for emotional images were less influenced by the lack of sleep (the mean difference between control and sleep‐deprived subjects was around 40% higher for neutral images than for emotional images). Familiarity, however, was affected by neither emotion nor sleep. Taken together, these results suggest that emotion and sleep influence differentially the subjective experience of remembering and knowing and the underlying processes of recollection and familiarity through brain mechanisms probably involving amygdala‐ and hippocampo‐neocortical networks respectively.
Trends in management and outcome of pregnancies in HIV‐infected women in the UK and Ireland, 1990–2006
Authors: Townsend CL , Cortina‐Borja M , Peckham CS , Tookey PA 
Published: May 2008

Objective  To describe the changing demographic profile of diagnosed HIV‐infected pregnant women over time and trends in pregnancy outcome, uptake of interventions and mother‐to‐child transmission.Design  National surveillance study.Setting  UK and Ireland.Population  Diagnosed HIV‐infected pregnant women, 1990–2006.Methods  Active surveillance of obstetric and paediatric HIV conducted through the National Study of HIV in Pregnancy and Childhood.Main outcome measures  Maternal characteristics, pregnancy outcome, use of antiretroviral therapy, mode of delivery and mother‐to‐child transmission.Results  A total of 8327 pregnancies were reported, increasing from 82 in 1990 to 1394 in 2006, with an increasing proportion from areas outside London. Injecting drug use as the reported risk factor for maternal HIV acquisition declined from 49.2% (185/376) in 1990–1993 to 3.1% (125/4009) in 2004–2006 (P < 0.001), while the proportion of women born in sub‐Saharan Africa increased from 43.5% (93/214) in 1990–1993 to 78.6% (3076/3912) in 2004–2006 (P < 0.004). Reported pregnancy terminations decreased from 29.6% (111/376) in 1990–1993 to 3.4% (135/4009) in 2004–2006 (P < 0.001). Most (56.4%, 3717/6593) deliveries were by elective caesarean section, with rates highest in 1999 (66.4%, 144/217). Vaginal deliveries increased from 16.6% (36/217) in 1999 to 28.3% (321/1136) in 2006 (P < 0.001). Use of antiretroviral therapy in pregnancy increased over time, reaching 98.4% (1092/1110) in 2006, and the overall mother‐to‐child transmission rate declined from 18.5% (35/189) in 1990–1993 to 1.0% (29/2832) in 2004–2006.Conclusions  The annual number of reported pregnancies increased dramatically between 1990 and 2006, with changing demographic and geographic profiles and substantial changes in pregnancy management and outcome.
Glove perforations during open surgery for gynaecological malignancies
Authors: Manjunath AP , Shepherd JH , Barton DPJ , Bridges JE , Ind TEJ 
Published: May 2008

Objective  To audit glove perforations at laparotomies for gynaecological cancers.Setting  Gynaecological oncology unit, cancer centre, London.Design  Prospective audit.Sample  Twenty‐nine laparotomies for gynaecological cancers over 3 months.Methods  Gloves used during laparotomies for gynaecological cancer were tested for perforations by the air inflation and water immersion technique. Parameters recorded were: type of procedure, localisation of perforation, type of gloves, seniority of surgeon, operation time and awareness of perforations.Main outcome measure  Glove perforation rate.Results  Perforations were found in gloves from 27/29 (93%) laparotomies. The perforation rate was 61/462 (13%) per glove. The perforation rate was three times higher when the duration of surgery was more than 5 hours. The perforation rate was 63% for primary surgeons, 54.5% for first assistant, 4.7% for second assistant and 40.5% for scrub nurses. Clinical fellows were at highest risk of injury (94%). Two‐thirds of perforations were on the index finger or thumb. The glove on the nondominant hand had perforations in 54% of cases. In 50% of cases, the participants were not aware of the perforations. There were less inner glove perforations in double gloves compared with single gloves (5/139 versus 26/154; P = 0.0004, OR = 5.4, 95% CI 1.9–16.7). The indicator glove system failed to identify holes in 44% of cases.Conclusions  Glove perforations were found in most (93%) laparotomies for gynaecological malignancies. They are most common among clinical fellows, are often unnoticed and often not detected by the indicator glove system.
The difficulty of questioning clinical practice: experience of facility‐based case reviews in Ouagadougou, Burkina Faso
Authors: Richard F , Ouédraogo C , Zongo V , Ouattara F , Zongo S , Gruénais ME , De Brouwere V 
Published: May 2008

Objective  To describe the implementation of facility‐based case reviews (medical audits) in a maternity unit and their effect on the staff involved.Design  Cross‐sectional descriptive study.Setting  A 26‐bed obstetric unit in a district hospital in Ouagadougou, Burkina Faso.Sample  Sixteen audit sessions conducted between February 2004 and June 2005. Thirty‐five staff members were interviewed.Methods  An analysis of all the tools used in the management of the audit was performed: attendance lists, case summary cards and register of recommendations. The perceptions of the staff about the audits were collected through a questionnaire administrated by an external investigator from 10 June 2005 to 16 June 2005.Main outcome measures  Session participation, types of problems identified, recommendations proposed and implemented and staff reaction to the audits.Results  Only 7 midwives from a total of 15 regularly attended the sessions. Eighty‐two percent of the recommendations made during the audits have been implemented, but sometimes after a delay of several months. Interviewed personnel had a good understanding of the audit goals and viewed audit as a factor in changing their practice. However, midwives highlighted problems of bad interpersonal communication and lack of anonymity during the audit sessions, and pointed out the difficulty of practising self‐criticism.Conclusions  A lack of staff commitment and the resistance of maternity personnel to being evaluated by their peers or service users are reducing acceptance of routine audits. The World Health Organization must take all these factors into account when promoting the institutionalisation of medical audits in obstetrics.
The epidemiological and economic impact of a quadrivalent human papillomavirus vaccine (6/11/16/18) in the UK
Authors: Dasbach EJ , Insinga RP , Elbasha EH 
Published: May 2008

Objective  To assess the potential epidemiological and economic impact of a prophylactic quadrivalent human papillomavirus (HPV) (6/11/16/18) vaccine for preventing cervical cancer, cervical intraepithelial neoplasia grades 2 and 3 (CIN2/3), CIN1 and genital warts.Design  Cost‐utility analysis.Setting  UK.Population  Female and male UK population 12 years or older.Methods  We adapted a previously developed multi‐HPV type dynamic transmission to compare four female vaccination strategies, routine vaccination at age 12 years, and routine vaccination at age 12 years combined with temporary catch‐up vaccination at ages 12–14, 12–17 and 12–24 years.Main outcomes measures  Costs, cases avoided, incremental cost per quality‐adjusted life year (QALY).Results  The model projected that at year 100, each vaccination strategy could reduce the number of HPV 6/11/16/18‐related cervical cancer, CIN2/3, CIN1 and genital wart cases among women by 86, 85, 79 and 89% respectively. Over 25 years, routine vaccination at age 12 years combined with a 12‐ to 24‐year‐old catch‐up programme was the most effective strategy, reducing the cumulative number of cases of cervical cancer, CIN2/3, CIN1 and genital warts by 5800, 146 000, 28 000, and 1.1 million respectively. Over 100 years, the incremental cost‐effectiveness ratios across all strategies ranged from £5882 to £11,412 per QALY gained.Conclusion  In the UK, a quadrivalent HPV vaccination programme that includes a catch‐up strategy can reduce the incidence of cervical cancer, CIN and genital warts at a cost per QALY ratio within the range typically regarded as cost‐effective.
Mild mitochondrial uncoupling in mice affects energy metabolism, redox balance and longevity
Authors: Caldeira da Silva Camille C. , Cerqueira Fernanda M. , Barbosa Lívea F. , Medeiros Marisa H. G. , Kowaltowski Alicia J. 
Published: May 2008

SummaryCaloric restriction is the most effective non‐genetic intervention to enhance lifespan known to date. A major research interest has been the development of therapeutic strategies capable of promoting the beneficial results of this dietary regimen. In this sense, we propose that compounds that decrease the efficiency of energy conversion, such as mitochondrial uncouplers, can be caloric restriction mimetics. Treatment of mice with low doses of the protonophore 2,4‐dinitrophenol promotes enhanced tissue respiratory rates, improved serological glucose, triglyceride and insulin levels, decrease of reactive oxygen species levels and tissue DNA and protein oxidation, as well as reduced body weight. Importantly, 2,4‐dinitrophenol‐treated animals also presented enhanced longevity. Our results demonstrate that mild mitochondrial uncoupling is a highly effective in vivo antioxidant strategy, and describe the first therapeutic intervention capable of effectively reproducing the physiological, metabolic and lifespan effects of caloric restriction in healthy mammals.
Occupational methacrylate and acrylate allergy from glues
Authors: Aalto‐Korte Kristiina , Alanko Kristiina , Kuuliala Outi , Jolanki Riitta 
Published: May 2008

Background:  Glues and sealants are important causes of methacrylate and acrylate allergy.Aim:  This study aimed to analyse patterns of allergic patch test reactions to acrylic monomers in relation to exposure in patients sensitized from glues.Patients/Methods:  We screened the patch test files at the Finnish Institute of Occupational Health from 1994 to 2006 for allergic reactions in the ‘Methacrylate series’ and analysed the clinical records of sensitized patients. Only patients who had handled acrylic glues at work were included.Results:  10 patients had allergic reactions to acrylic monomers and had been sensitized from glues at work. 9 of them had used anaerobic sealants, 3 cyanoacrylate‐based instant adhesives, and 1 patient a bi‐component instant adhesive. All the patients reacted to 2‐hydroxyethyl methacrylate (2‐HEMA) and ethyleneglycol dimethacrylate (EGDMA); reactions to 2‐hydroxypropyl methacrylate, triethyleneglycol dimethacrylate, and tetrahydrofurfuryl methacrylate were also common. The first 4 methacrylates were found in the glues used by the patients. Ethyl cyanoacrylate (ECA) gave no reactions, but 1 patient reacted weakly to her own ECA‐based glue.Conclusion:  2‐HEMA and EGDMA are good screeners for contact allergy to anaerobic sealants and also detected a single case deriving from bi‐component acrylic glue.
EFFECT OF HYDROCOLLOIDS ON RHEOLOGICAL, MICROSTRUCTURAL AND QUALITY CHARACTERISTICS OF PAROTTA – AN UNLEAVENED INDIAN FLAT BREAD
Authors: SMITHA S. , RAJIV JYOTSNA , BEGUM KHYRUNNISA , INDRANI D. 
Published: May 2008

ABSTRACT The effect of hydrocolloids – namely Arabic (AR), guar (GR), xanthan (XN), carrageenan (CG) and hydroxypropylmethylcellulose (HPMC) – on the rheological, microstructural and quality characteristics of south Indian parotta was studied separately at the level of 0.5%. Addition of hydrocolloids increased farinograph water absorption. The extensograph resistance to extension at 135 min increased with the addition of hydrocolloids. Addition of XN, GR and CG decreased extensibility, while AR and HPMC increased extensibility. The alveograph maximum over pressure increased, with the exception of AR, and average abscissa at rupture decreased with different hydrocolloids. The amylograph peak viscosity increased with all the hydrocolloids. In the micrographs of dough treated with different hydrocolloids, the starch granules appeared coated with gum, and the coating appeared prominent in the case of dough treated with GR and HPMC. Among the hydrocolloids tried, GR brought about the greatest improvement in the quality of parotta, followed in decreasing order by HPMC, XN, CG and AR. PRACTICAL APPLICATIONSIn India, demand for the large‐scale manufacture of packed parottas is increasing. The beneficial effects of hydrocolloids in parotta‐making have not yet been explored. This paper discusses the effect of different hydrocolloids on the rheological characteristics of dough in relation to parotta. The information generated on the use of hydrocolloids that are beneficial for parotta‐making will be useful for the large‐scale manufacturers of parotta.