bluuebunny/crossref_metadata_2025_split huggingface dataset:
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome)
Authors: Garcia A. R. , Pan J. , Lamsa J. C. , Muenzer J. 
Published: September 2007

SummaryMucopolysaccharidosis II (MPS II, Hunter syndrome in humans) is an X‐linked inherited lysosomal storage disease caused by a deficiency in the lysosomal enzyme iduronate‐2‐sulfatase (I2S). I2S catalyses a step in the catabolism of glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate, and when it is deficient or absent GAGs accumulate in tissues and organs. Male knockout mice (IdS‐KO), which lack the gene coding for I2S, exhibit many of the characteristics seen in the human disease. Compared to wild‐type control mice, urine GAG excretion was elevated at 4 weeks of age and remained high throughout the lifespan, and tissue GAG levels were elevated as early as 7 weeks of age. Liver, spleen and other organs were significantly larger in the IdS‐KO mice than in the wild‐type. Radiographic examination revealed sclerosis and enlargement of the skull at 4 weeks of age and appendicular bone enlargement at 10–13 weeks of age. Micro CT scans showed severe periosteal bone formation at the lateral aspect of the distal tibia and calcification of the calcaneus tendon. This model was used in the development of idursulfase for treatment of MPS II and may continue to be useful in the evaluation of treatment strategies of this chronic and progressive disorder.
Novel insights into L‐2‐hydroxyglutaric aciduria: Mass isotopomer studies reveal 2‐oxoglutaric acid as the metabolic precursor of L‐2‐hydroxyglutaric acid
Authors: Struys E. A. , Gibson K. M. , Jakobs C. 
Published: September 2007

SummaryEmploying lymphoblasts derived from two non related patients with l‐2‐HG aciduria, we examined the origin of l‐2‐hydroxyglutaric acid (l‐2‐HG) through incubation with [13C6]glucose and [2H5]glutamic acid. Formation of labelled 2‐ketoglutaric acid (2‐KG), citric acid and l‐2‐HG was determined by GC‐MS. The quantitative and qualitative isotopomer pattern following incubation with [13C6]glucose was identical for all end‐products. Incubations with [2H5]glutamic acid as precursor revealed the formation of identical isotopomers for 2‐KG and l‐2‐HG. Our data indicate that 2‐KG is the metabolic precursor of l‐2‐HG, adding to previous studies which revealed that 2‐KG is the metabolic precursor of d‐2‐HG. These data suggest that 2‐KG has a pathophysiological role in combined d/l‐2‐HG aciduria.
High incidence of hypermethioninaemia in a single neonatal intensive care unit detected by a newly introduced neonatal screening programme
Authors: ten Hoedt A. E. , van Kempen A. A. , Boelen A. , Duran M. , Kemper‐Proper E. A. , Oey‐Spauwen M. J. W. , Wijburg F. A. , Bosch A. M. 
Published: September 2007

SummaryFrom 1 January 2007 an expanded neonatal screening programme was initiated in the Netherlands, including homocystinuria with methionine as the primary marker. During the first 2 months hypermethioninaemia was detected in 14 newborns who, after proper evaluation, were demonstrated not to have classical homocystinuria. Remarkably, all these children were admitted to a single neonatal intensive care unit (Academic Medical Center, Amsterdam (AMC‐NICU)). We evaluated the possible causes for this finding. The cohort of newborns with hypermethioninaemia (group 1) was compared with the cohort of newborns with normal screening results admitted to the AMC‐NICU in the same time period (group 2). In addition, parenteral nutrition protocols from all NICUs in the Netherlands were compared. Mean birth weight and gestational age were significantly lower in group 1 than in group 2. All patients in group 1 received parenteral feeding (TPN) at the time of screening and received a higher mean amino acid intake per kilogram body weight than patients receiving TPN in group 2. Also, the AMC‐NICU uses a different amino acid mixture for TPN than the other Dutch NICUs, containing more than twice the amount of methionine per gram of amino acids compared with other mixtures. The high incidence of hypermethioninaemia in the AMC‐NICU is explained by a combination of low birth weight, low gestational age, and high protein intake supplied by a specific parenteral amino acid mixture containing large amounts of methionine. To prevent hypermethioninaemia, the use of high‐methionine containing solutions for TPN should be reconsidered.
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N‐acetylgalactosamine‐6‐sulfate sulfatase
Authors: Montaño A. M. , Sukegawa K. , Kato Z. , Carrozzo R. , Di Natale P. , Christensen E. , Orii K. O. , Orii T. , Kondo N. , Tomatsu S. 
Published: September 2007

SummaryMucopolysaccharidosis IVA is an autosomal recessive disease caused by the deficiency of N‐acetylgalactosamine‐6‐sulfate sulfatase (GALNS). Mutation screening of the GALNS gene was performed for seven MPS IVA patients with attenuated phenotypes from three unrelated families. Four of 5 missense mutations identified in this study (p.F167V, p.R253W, p.R380S, p.P484S) and two reported (p.F97V, p.N204K), associated with attenuated phenotypes, were characterized using in vitro stable expression experiments, enzyme kinetic study, protein processing and structural analysis. The stably expressed mutant enzymes defining the attenuated phenotype exhibited a considerable residual activity (1.2–36.7% of the wild‐type GALNS activity) except for p.R380S. Enzyme kinetic studies showed that p.F97V, p.F167V and p.N204K have lower affinity to the substrate compared with other mutants. The p.F97V enzyme was the most thermolabile at 55°C. Immunoblot analyses indicated a rapid degradation and/or an insufficiency in processing in the mutant proteins. Tertiary structure analysis revealed that although there was a tendency for ‘attenuated’ mutant residues to be located on the surface of GALNS, they have a different effect on the protein including modification of the hydrophobic core and salt‐bridge formation and different potential energy. This study demonstrates that ‘attenuated’ mutant enzymes are heterogeneous in molecular phenotypes, including biochemical properties and tertiary structure.
Suicide ideation and social desirability among school‐aged young people
Authors: Miotto P. , Preti A. 
Published: September 2007

ABSTRACTA mixed male–female sample of 950 school‐aged adolescents, corresponding to 10% of the young population aged 15–19 living in a rural district of Northeast Italy, was investigated with self‐reported questionnaires about the links between social desirability and suicide ideation. On the whole 30.6% of females and 23.9% of males reported suicidal ideation of some degree, with 5% in both genders reporting suicide ideation of a high degree (i.e. quite a lot/extremely often). Those who scored higher at the Marlowe–Crowne Social Desirability Scale (SDS) reported lower levels of psychiatric symptoms on the Symptom checklist 90R (SCL‐90R), with the “denial” subscale of the SDS resulting specifically associated to lower scores on SCL‐90R items measuring hopelessness, thoughts about death and suicide ideation. The personality traits measured by the Marlowe–Crowne SDS, such as defensiveness, denial and self‐deception, might be conceived as a protection against psychiatric disorders and suicide ideation.
Morphine‐6‐glucuronide (M6G) for postoperative pain relief
Authors: Dahan Albert , van Dorp Eveline , Smith Terry , Yassen Ashraf 
Published: September 2007

AbstractMorphine‐6‐glucuronide (M6G) is morphine's active metabolite acting at the μ‐opioid receptor. Recent experimental human studies and 5 of 6 randomized clinical trials indicate that M6G causes adequate and long lasting pain relief comparable to morphine. There are various observations that M6G is associated with a reduction in the severity of side effects normally associated with opioid use, such as reduced postoperative nausea and vomiting (PONV) and reduced respiratory depression. The present drug profile provides a review of the pharmacological properties of M6G, the clinical evidence relating to its efficacy and safety, and discusses its future role in the treatment of postoperative pain.
Urogenital and recto‐vaginal fistulas in southern Malawi: A report on 407 patients
Authors: Rijken Y. , Chilopora G.C. 
Published: September 2007

AbstractThis study from Southern Malawi reports on 407 patients with 408 vaginal fistulas (1 patient had 2 successive fistulas). There were 29 patients (7.6%) with a combined urogenital and recto‐vaginal fistula. Obstructed labor was the cause of 379 fistulas and the remaining 29 were not of obstetric origin. Although the actual incidence of vaginal fistulas is unknown, the incidence is probably much lower in Malawi than in other African countries. The rate of closure at first repair was 94.1% for urogenital fistulas but it reached 98.5% overall. For recto‐vaginal fistulas, closure at first repair was 78.8% but the overall rate of successful closure was 87.9%. Stress incontinence was seen in 16.2% of the patients immediately after repair and in 6.2% after 6 months. The latter rate is certainly too low, however, as 26 of 63 patients were lost to follow‐up. A national fistula task force has been set up in Malawi.
The classification of obstetric vesico‐vaginal fistulas
Authors: Arrowsmith S.D. 
Published: September 2007

AbstractClassification systems for vesico‐vaginal fistulas (VVFs) are as old as fistula surgery itself. Many classification systems have been proposed over the past 150 years, and nearly all have been based on descriptions of the size and anatomic location of the defect. While useful in communicating the appearance of a given fistula, systems based on size and anatomy do not necessarily give information on the difficulty of repair or the prognosis for successful outcome. This article serves as a call for a classification system for VVFs based on outcome rather than anatomy. Developing a reliable system will require data resources that do not yet exist. Based on incomplete data from a Nigerian VVF center, a possible system is proposed for further study. Once available, an outcome‐based classification system could be vital in selecting fistula cases appropriate for training surgeons, and in improving communication with patients.
Obstetric fistulas: A clinical review
Authors: Creanga A.A. , Genadry R.R. 
Published: September 2007

AbstractA high proportion of genitourinary fistulas have an obstetric origin. Obstetric fistulas are caused by prolonged obstructed labor coupled with a lack of medical attention. While successful management with prolonged bladder drainage has occasionally been reported, mature fistulas require formal operative repair, and it is crucial that the first repair is done properly. The literature reports 3 approaches to fistula repair: vaginal, abdominal, and combined vaginal and abdominal. Many authors report high success rates for the surgical closure of obstetric fistulas at the time of hospital discharge, without further evaluation of the repair's effect on urinary continence or subsequent quality of life. Data on obstetric fistulas are scarce, and thus many questions regarding fistula management remain unanswered. A standardized terminology and classification, as well as a data reporting system on the surgical management of obstetric fistulas and its outcomes, are critical steps that need to be taken immediately.
The role of delayed childbearing in the prevention of obstetric fistulas
Authors: Tsui A.O. , Creanga A.A. , Ahmed S. 
Published: September 2007

AbstractObjectiveTo examine the role of delayed childbearing in the prevention of obstetric fistulas (OFs).MethodsData on 4798 deliveries in Niger (1995–1998), 3552 in Nigeria (1996–1999), and 6789 in Tanzania (1991–1996) were analyzed with logistic regression models.ResultsYoung maternal age and primiparous status were identified as correlates of prolonged/obstructed labor. The annual incidence of OFs in Nigeria was found to be 2.11 per 1000 births, with 9817 cases developing each year, 28% in women and girls younger than 20 years. The predicted proportion of women experiencing prolonged/obstructed labor would be reduced by 11.2% in Niger, 11.4% in Nigeria, and 13.1% in Tanzania if the risks associated with young maternal age at first delivery and primiparity were eliminated.ConclusionsCommunity programs to educate young, newly married women about delaying childbearing until they reach physical maturity should be implemented in countries with a high incidence of OFs.
Pollen evidence for variations in the southern margin of the westerly winds in SW patagonia over the last 12,600 years
Authors: Villa-Martínez Rodrigo , Moreno Patricio I. 
Published: September 2007

AbstractWe report pollen and charcoal records from Vega Ñandú (∼ 51°0′S, 72°45′W), a small mire located near the modern forest-steppe ecotone in Torres del Paine National Park, southern Chile. The record shows an open landscape dominated by low shrubs and herbs between 12,600 and 10,800 cal yr BP, under cold and relatively humid conditions. Nothofagus experienced frequent, large-amplitude oscillations between 10,800 and 6800 cal yr BP, indicating recurrent transitions between shrubland/parkland environments, under warm and highly variable moisture conditions. A sustained increase in Nothofagus started at 6800 cal yr BP, punctuated by step-wise increases at 5100 and 2400 cal yr BP, implying further increases in precipitation. We interpret these results as indicative of variations in the amount of precipitation of westerly origin, with prominent increases at 6800, 5100, and 2400 cal yr BP. These pulses led to peak precipitation regimes during the last two millennia in this part of SW Patagonia. Our data suggest variations in the position and/or strength of the southern margin of the westerlies, most likely linked to variations in the extent and/or persistence of sea ice and sea-surface temperature anomalies in the Southern Ocean. Over the last two centuries the record shows a forest decline and expansion of Rumex acetosella, an exotic species indicative of European disturbance.
A follow‐up study of the first 70 admissions to a general purpose adolescent unit
Authors: Pyne Nicholas , Morrison Rosemary , Ainsworth Patricia 
Published: September 2007

A follow‐up study of the first 70 admissions to a general purpose adolescent unit.The adolescents and their families were given individual interviews. The outcome, which was assessed on the basis of these interviews, included psychiatric symptomatology and three basic areas of functioning: social, sexual and work adjustments. A global rating of the general level of function, relative to normality, was given for each adolescent. One third of the adolescents were functioning at a high level, one third were functioning at a moderate level and one third were severely handicapped in the most essential areas of functioning. The study group appeared to be disadvantaged socially and in the work situation.Results suggested that the optimum length of stay was 5–25 weeks. The nature of discharge was important: those adolescents who completed treatment were more likely to have a better outcome than those discharged prematurely.
Preventative adolescent psychiatry? Practical problems in running social skills groups for the younger adolescent
Authors: Hardwick Peter J. , Pounds Alan B. , Brown Margaret 
Published: September 2007

In order to develop autonomy an adolescent needs a satisfactory peer group experience. Poor peer relationships in children and adolescents are an important factor in the development of psychological disorder in adults. Family therapy and individual psychotherapy by themselves may not attend specifically to the issue of helping a child improve his peer relationships.The first part of this article deals with theoretical considerations including the concept and development of social skills. The second part describes how we set up and run our social skills groups in both a Child Guidance Clinic and a school for the maladjusted. Issues such as selection of children, creating group cohesion, and techniques for intervention (including social learning games, modelling, role plays and cognitive strategies) are discussed. The third part portrays an attempt to evaluate outcome. Throughout we share practical difficulties we have encountered.
The age, fauna and palaeoenvironment of the Late Triassic fissure deposits of Tytherington, South Gloucestershire, UK
Authors: WHITESIDE D. I. , MARSHALL J. E. A. 
Published: September 2007

AbstractImportant vertebrate faunas occur in fissure deposits of Late Triassic–Jurassic age in SW Britain. Although the faunas are well described, their age and palaeoenvironment remain poorly understood. One such fissure system was documented in detail during quarrying operations at Tytherington and has yieldedin situpalynomorphs that add much information concerning its age and palaeoenvironment. Significantly, the Tytherington fauna is of the sauropsid type that has generally been dated as Norian or pre-Penarth Group transgression and was also regarded as representing a distinct upland fauna. The palynomorphs, which include a significant marine component, demonstrate that the Tytherington Triassic fissures are infilled with Late Triassic (Rhaetian) sediments that match specific levels in the Westbury Formation. In addition, many of the Tytherington solutional fissures probably formed during the Rhaetian and are consistent with a fluctuating saline to freshwater environment. There is noprima facieevidence of solutional formation and infilling of the reptile-bearing deposits before the Rhaetian trangression. The fissure reptile fauna, which includes the early dinosaurThecodontosaurus, inhabited a small fire-swept limestone island in the Rhaetian sea. The features of the herpetofauna are entirely consistent with this island model which has Quaternary analogues.
Biochemical composition and metabolic pathways of filarial worms Setaria cervi: search for new antifilarial agents
Authors: Ahmad Rumana , Srivastava Arvind K. 
Published: September 2007

AbstractThe main problem regarding the chemotherapy of filariasis is that no safe and effective drug is available yet to combat the adult human filarial worms. Setaria cervi, the causal organism of setariasis and lumbar paralysis in cattle, is routinely employed as a model organism for conducting biochemical and enzymatic studies on filarial parasites. In view of the practical difficulties in procuring human strains of Wuchereria bancrofti and Brugia malayi for drug screening, the bovine filarial parasite S. cervi, resembling the human species in having microfilarial periodicity and chemotherapeutic response to known antifilarial agents, is widely used as a model in such studies. For a rational approach to antifilarial chemotherapy, knowledge of the biochemical composition and metabolic pathways of this helminth parasite may be of paramount importance, so that more potent antifilarial agents based on specific drug targets can be identified in drug discovery programmes. The present review provides an update on the biochemistry of the important metabolic pathways functioning within this potentially important bovine parasite, that have so far been studied, and on those that need to be investigated further so as to identify novel drug targets that can be exploited for designing new antifilarial drugs.
Patterns of parasitic infections in faecal samples from stray cat populations in Qatar
Authors: Abu-Madi M.A. , Al-Ahbabi D.A. , Al-Mashhadani M.M. , Al-Ibrahim R. , Pal P. , Lewis J.W. 
Published: September 2007

AbstractThe parasite fauna of stray cat populations, comprising mainly helminth parasites, is described for the first time from the arid environment of the Qatar peninsula. During the winter and summer months of 2005, 824 faecal samples were examined from six sites in Qatar. Up to seven species of parasites were identified, six of which were nematodes –Strongyloides stercoralisas the most prevalent (18.4%), followed byAelurostrongylus abstrusus(7.5%),Toxocara cati(6.1%),Ancylostoma tubaeforme(5.9%) andPhysalopterasp. (4.8%) andToxascaris leonina(0.7%) – and one sporozoan species,Isospora felis(0.5%). Unidentified cestode eggs were also recovered from 10.7% of samples examined. The parasite species were found to be highly overdispersed in faecal samples from all sites, whereas the prevalence and intensity of infections were influenced by site and season. Infection levels tended to be higher during the winter season, especially in the case ofA. abstrususandA. tubaeforme, when conditions of temperature and humidity were more favourable for the development of egg and/or larval stages of parasites compared with the extremely hot and dry summer months. The results are discussed in relation to the distribution of the cat population in the vicinity of Doha and its outskirts and the potential threat of parasite transmission to human communities in Qatar.
Lack of preference for infective faeces inHymenolepis diminuta-infected beetles (Tenebrio molitor)
Authors: Shea John F. 
Published: September 2007

AbstractThe beetle–tapeworm life cycle provides a convenient system to study how host behaviour influences the probability of re-infection because initial and secondary infections can be tracked. The beetle,Tenebrio molitor, is infected with the tapewormHymenolepis diminutawhen it ingests rat faeces containing tapeworm eggs, which upon hatching undergo five morphologically distinct stages while developing inside the beetle. In a series of preference trials, both individual and groups of previously infected beetles were exposed to baits of infective (faeces with eggs) and uninfective faeces. Beetles did not differ in the amount of time spent or in the number of occurrences at each bait type, suggesting that infected beetles show no preference for infective faeces. This may be a host adaptation to avoid further infection, parasite manipulation to avoid competition for host resources, or both. Further, once infected, beetles are no more or no less likely to become re-infected than uninfected beetles. An analysis of the mean and variance of infection suggests that some individuals are highly susceptible to and some are highly resistant to infection, with males being more variable than females. This could explain the higher load of cysticercoids observed in males.
Parasite development and visceral pathology inGalba truncatulaco-infected withFasciola hepaticaandParamphistomum daubneyi
Authors: Rondelaud D. , Vignoles P. , Dreyfuss G. 
Published: September 2007

AbstractHistological investigations inGalba truncatulanaturally or experimentally co-infected withFasciola hepaticaandParamphistomum daubneyiwere carried out to study parasite development and the responses of the digestive gland and kidney of snails, as larval forms of these digeneans often use these two sites for their growth within the snail's body. The number of live rediae per snail ranged from 2.4 to 4.2 for the dominating parasite (it developed in the digestive gland) and was less than 2.0 for the other species. When the dominating species wasF. hepatica, most snails harboured cercariae-containing rediae; if this parasite wasP. daubneyi, procercariae-containing rediae with or without free procercariae were observed in most snails. In contrast, most rediae of the other species were immature. The pathology caused by the dominating species in the digestive gland was greater than that recorded in the kidney, where the other parasite was generally located. The most frequent tissue lesions in the digestive gland were generalized epithelial necrosis and epithelial reconstitution. In the kidney, multifocal epithelial necrosis was frequently observed, particularly whenP. daubneyiwas the dominating species. The frequencies of lesions in the digestive gland agreed with percentages reported by our team in other snails mono-infected withF. hepaticaorP. daubneyi. In contrast, multifocal necrosis in the kidney was clearly greater in the present study and this finding might be explained by assuming that a sufficient number of free larvae within the snail would be necessary for the development of epithelial necrosis in the whole kidney.