bluuebunny/crossref_metadata_2025_split huggingface dataset:
Description of Virus Capsid Structures with Methods from Inorganic Solid State Chemistry
Authors: Andersson Sten 
Published: October 2008

AbstractThe fundamental theorem of algebra and the Hermites provide unique methods to describe virus capsids. Giant virus structures are described in the Rossmann's series that contains the PBCV‐1, and also a hypothetical Mimi virus structure. The HIV core structure given by Mark Yeager and Barbie Ganser‐Pornillos is described as composed of capsid members of the Blue Tongue series.
Homelessness, Mental Illness, and Criminal Activity: Examining Patterns Over Time
Authors: Fischer Sean N. , Shinn Marybeth , Shrout Patrick , Tsemberis Sam 
Published: October 2008

AbstractThis study examined whether street homelessness, sheltered homelessness, and the severity of psychological symptoms predicted non‐violent and violent crime among 207 mentally ill participants who were homeless at baseline. Participants were interviewed at 9 time points over 4 years. Hierarchical linear modeling (HLM) was used to examine whether changes in homelessness status and symptom severity predicted changes in criminal activity over time. Results indicated that homelessness both on the streets and in shelters and psychological symptom severity predicted increases in non‐violent crime. Sheltered homelessness and symptom severity predicted increases in violent crime, although street homelessness did not. A separate mediational analysis with 181 participants showed that the relationship between diagnosis of a psychotic disorder and both non‐violent and violent criminal activity was partially mediated through the severity of psychotic symptoms. Implications for research and intervention are discussed.
Transcobalamin (TC) deficiency—Potential cause of bone marrow failure in childhood
Authors: Prasad C. , Rosenblatt D. S. , Corley K. , Cairney A. E. L. , Rupar C. A. 
Published: October 2008

SummaryIt is unusual for inborn errors of metabolism to be considered in the investigative work‐up of pancytopenia. We report a family in which the proband presented with failure to thrive at 2 months of age and subsequent bone marrow failure. A previous sibling had died at 7 months of age with suspected leukaemia. Haematological findings in the proband were significant for pancytopenia, and bone marrow aspiration showed dysplastic changes in all cell lineages. Urinary organic acid analysis revealed elevated methylmalonic acid. The synthesis of transcobalamin II (transcobalamin, TC) by cultured fibroblasts was markedly reduced, confirming the diagnosis of TC deficiency. The proband and his younger asymptomatic sister (also found to have TC deficiency) were homozygous for R399X (c.1195C>T), a novel mutation resulting in the loss of the C‐ terminal 29 amino acids of TC, a highly conserved region. Response to parenteral vitamin B12 in the proband was dramatic. At 6 years 3 months of age, physical examination is normal and developmental level is age appropriate. His sister is clinically asymptomatic and is also developing normally. Propionylcarnitine concentrations were not elevated in the newborn screening cards from the proband and sister, but that was for specimens retrieved from storage after 7 years and 5 years, respectively. Inherited and acquired cobalamin disorders should both be considered in the differential diagnosis of bone marrow failure syndromes in young children. Early detection of the metabolic causes of bone marrow failure can ensure prompt recovery in some cases involving the vitamin B12 pathway.
Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia
Authors: Velázquez‐Aragón J. , Alcántara‐Ortigoza M. A. , Vela‐Amieva M. , Monroy S. , Martínez‐Cruz V. , Todd‐Quiñones C. , González‐del Angel A. 
Published: October 2008

SummaryClassical galactosaemia is an autosomal recessive disease of galactose metabolism caused by a deficiency of the enzyme galactose‐1‐phosphate uridyltransferase (GALT). Galactosaemia is not included in the neonatal screening programme in Mexico and it is necessary to implement methodologies for prompt diagnosis of these patients to establish treatment. To date, more than 190 mutations in the GALT gene have been reported, most in caucasian populations, but there have been no reports of mutations in Latin‐American populations. We report here the mutational spectrum in 19 Mexican galactosaemic patients. The most frequent mutations were p.Q188R, p.N314D and IVS2‐2A>G, which together represented 71% of detected mutations. The mutation IVS2‐2A>G, which has been detected only in Hispanics, was thought to generate a null allele; we identified one patient with a homozygous IVS2‐2A>G mutation who showed a mild deficiency of enzyme value in erythrocytes. One patient homozygous for Duarte 2 (p.N314D, IVS5+62G>A) is probably due to a partial uniparental disomy of chromosome 9. In addition, a novel mutation c.336T>C (p.S112R) was detected in one patient with severe enzymatic deficiency. Despite the small number of patients studied, our results suggest that classical galactosaemia shows low allelic heterogeneity in Mexican patients, in contrast what is observed in other Mendelian disorders such as cystinosis or autosomal dominant hypercholesterolaemia. This low allelic heterogeneity might be explained by a “population of origin” effect in the central region of Mexico, as has been described for phenylketonuria.
Significance of genotype in tetrahydrobiopterin‐responsive phenylketonuria
Authors: Trefz F. K. , Scheible D. , Götz H. , Frauendienst‐Egger G. 
Published: October 2008

SummaryBackgroundThe value of genotyping to identify tetrahydrobiopterin‐responsive (BH4‐responsive) patients with phenylalanine hydroxylase (PAH) deficiency is a matter of debate.MethodsWe reviewed 250 cases of patients with PAH deficiency, using published data from 198 cases and unpublished data from 52 cases of patients attending our own clinic. Patients underwent analyses for BH4 load and genetic mutations. Partial and full BH4 responses were defined as a 10–29% decrease and a ≥30% decrease from baseline in blood phenylalanine levels, respectively. BH4‐responsive alleles were identified from BH4‐responsive patients as either homozygous for a specific allele or compound heterozygous for that allele with a null mutation.ResultsMost inconsistencies between observed genotype and BH4 response were associated with mutations in the regulatory domain of PAH (p.R68S, p.I65T, p.L48S and p.F39C), where 20/62 alleles (32.2%) were non‐responsive. In the catalytic domain (mutations p.Y414C, p.R261Q, p.E390G, p.A300S, p.R241C, p.A403V and p.V388M), only 8/125 alleles (6.4%) were non‐responsive. Seven patients had a genotype with two BH4‐responsive alleles resulting in no response or only a partial response to BH4. Ten patients had identical genotypes but inconsistent responses in BH4 load.ConclusionsThese results show that BH4 non‐responsiveness is associated with genotype. However, patients with mutations in the regulatory domain show inconsistent results. In patients with two responsive alleles, non‐responsiveness may be related to negative inter‐allelic complementation. In patients with the same genotype and inconsistent results for BH4 load, external factors such as intestinal absorption of BH4, catabolic conditions or other genetic factors may be responsible. Further in vitro studies are necessary to clarify the genotype–phenotype correlation in patients with BH4‐responsive PKU.
Nutritional management of PKU with glycomacropeptide from cheese whey
Authors: Ney D. M. , Gleason S. T. , van Calcar S. C. , MacLeod E. L. , Nelson K. L. , Etzel M. R. , Rice G. M. , Wolff J. A. 
Published: October 2008

SummaryIndividuals with phenylketonuria (PKU) must follow a lifelong low‐phenylalanine (Phe) diet to prevent neurological impairment. Compliance with the low‐Phe diet is often poor owing to restriction in natural foods and the requirement for consumption of a Phe‐free amino acid formula or medical food. Glycomacropeptide (GMP), a natural protein produced during cheese‐making, is uniquely suited to a low‐Phe diet because when isolated from cheese whey it contains minimal Phe (2.5–5 mg Phe/g protein). This paper reviews progress in evaluating the safety, acceptability and efficacy of GMP in the nutritional management of PKU. A variety of foods and beverages can be made with GMP to improve the taste, variety and convenience of the PKU diet. Sensory studies in individuals with PKU demonstrate that GMP foods are acceptable alternatives to amino acid medical foods. Studies in the PKU mouse model demonstrate that GMP supplemented with limiting indispensable amino acids provides a nutritionally adequate source of protein and improves the metabolic phenotype by reducing concentrations of Phe in plasma and brain. A case report in an adult with classical PKU who followed the GMP diet for 10 weeks at home indicates safety, acceptability of GMP food products, a 13–14% reduction in blood Phe levels (p < 0.05) and improved distribution of dietary protein throughout the day compared with the amino acid diet. In summary, food products made with GMP that is supplemented with limiting indispensable amino acids provide a palatable alternative source of protein that may improve dietary compliance and metabolic control of PKU.
Progress in expanded newborn screening for metabolic conditions by LC‐MS/MS in Tuscany: Update on methods to reduce false tests
Authors: la Marca G. , Malvagia S. , Casetta B. , Pasquini E. , Donati M. A. , Zammarchi E. 
Published: October 2008

SummaryWe report on our 6‐year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false‐positive and false‐negative tests are described. Blood collection is recommended between 48 and 72 h of life. Blood spots are sent daily by courier to laboratory. When a positive result occurs, two subsequent procedures are followed: for disorders with possible acute metabolic decompensation, the baby is immediately recalled and clinical examinations and confirmatory tests are performed; for the other disorders, the nursery provides for a second blood spot. If the test is positive, clinical examinations and confirmatory tests are performed. In both cases, if confirmatory tests are positive, a treatment and a follow‐up programme are started. Up to now, spots from 160 000 infants have been analysed and 80 affected patients have been identified (disorders of amino acids, organic acids and fatty acids metabolism). We describe adjustments to cut‐off values, the introduction of a second‐tier test for propionic acidaemia and for methylmalonic aciduria, the inclusion of succinylacetone in the panel of metabolites, and protocols for premature infants and for newborns on parenteral nutrition or transfused. These changes resulted in a reduction in recalls from 1.37% to 0.32% and consequently of working time and parental stress. Avoiding false‐negatives by using more specific markers and minimizing the false‐positive rate with second‐tier testing is important for a successful newborn screening programme.
Quality of life in noncompliant adults with phenylketonuria after resumption of the diet
Authors: Bik‐Multanowski M. , Didycz B. , Mozrzymas R. , Nowacka M. , Kaluzny L. , Cichy W. , Schneiberg B. , Amilkiewicz J. , Bilar A. , Gizewska M. , Lange A. , Starostecka E. , Chrobot A. , Wojcicka‐Bartlomiejczyk B. I. , Milanowski A. 
Published: October 2008

SummaryBackground:Discontinuation of dietary therapy in adults with phenylketonuria can lead to neuropsychological abnormalities and emotional problems. The aim of our study was to assess the change in quality of life in adult patients returning to the diet and to define the reasons for failure in diet resumption.Methods:Quality of life was assessed by means of the Psychological General Well‐Being Index before study entry and subsequently after 3 and 9 months. Reasons for failure in diet resumption were analysed.Results:53 patients participated in the study. Initial quality of life assessment revealed severe distress in 17%, moderate distress in 28% and positive well‐being in 55% of them. In the majority of patients with severe or moderate distress, improvement of subjective well‐being was observed (especially in the domains of anxiety and depressiveness) if they managed to return to the diet (blood phenylalanine concentrations before study entry 0.78–1.62 mmol/L, mean 1.16 mmol/L; average blood phenylalanine concentration decrease by 0.42 mmol/L). Only 29 persons managed to maintain the diet for at least 3 months and only 10 participants finished the entire 9‐month study protocol. Problems with dietary treatment while at work, the high cost of low‐protein products and poor knowledge regarding proper diet were the most important factors responsible for failure in resumption of diet.Conclusion:Interpersonal differences exist between adult patients on relaxed diet, in some of whom quality of life often remains good, while others can suffer from severe emotional distress. Returning to diet increases quality of life in the majority of patients.
A Systematic Review of the Effects of Disclosing Carrier Results Generated Through Newborn Screening
Authors: Hayeems R. Z. , Bytautas J. P. , Miller F. A. 
Published: October 2008

AbstractEvidence on the effects of disclosing carrier results identified through newborn screening (NBS) is needed to develop effective strategies for managing these results, and to inform debate about contradictory policies governing genetic testing in minors in the context of NBS relative to clinical care. This is likely to be even more important as technological opportunities for carrier identification through NBSincrease. We report the results of a systematic review of evidence related to the generation of carrier results through NBS to summarize what is known about: (1) the outcomes associated with these results; (2) the best strategies for providing information and follow‐up care to parents; and (3) the impact they have on reproductive decision‐making. Our study expands the existing body of knowledge and identifies gaps in the evidence base. As key players in the management of carrier results clinically, genetic counselors are well positioned to engage in formative research and policy development in this area.
Association of Ilizarov's technique and intramedullary rodding in the treatment of congenital pseudarthrosis of the tibia
Authors: Mathieu Laurent , Vialle Raphaël , Thevenin-Lemoine Camille , Mary Pierre , Damsin Jean-Paul 
Published: October 2008

Purpose Many surgical techniques have been published on how to treat congenital pseudoarthrosis of the tibia (CPT). We combined Ilizarov's fixator with intramedullary nailing of the tibia and developed a procedure which combines the advantages of both methods: Ilizarov's high fusion rate with alignment control and the protection against refracture provided by the intramedullary nail. The results of this approach are presented and discussed. Material and methods Seven boys and three girls aged 3–14 years (mean age 8 years 2 months) were treated using our combined technique. In six cases, the CPT was associated with neurofibromatosis. Two strategies were adopted: in six cases, a compression was applied on the bone defect, and in four cases, segmental bone transportation was performed before the compression procedure. The final follow-up (1.2–6.6 years) included a clinical and radiological examination. Results Tibial union was achieved in nine cases without bone grafting. In one case, tibial union still remains uncertain, despite intertibiofibular bone grafting and additional compression procedures. Thirteen overall complications were noted, including three valgus deformity of the ankle. Bone transportation failed to achieve complete limb lengthening in three cases. One deep infection occurred 4 years after removal of the external fixator. The treatment for this included nail removal and antibiotic therapy for 3 months. Despite a permanent protection of orthosis, a refracture occurred 2 years after nail removal, reverting to the initial level of pseudarthrosis. Another surgical attempt using the same method was then performed with a satisfactory result. Conclusions The association of Ilizarov's technique and intramedullary nailing achieved and maintained tibial union in nine of ten patients at final follow-up. It also allowed correction of axial deformities and prevented refracture. Despite the short duration of the follow-up and a high rate of complications in our series, this method can be useful in many cases of CPT in which healing has failed to occur despite many previous surgeries.
Pathologic fractures of long bones in Nigerian children
Authors: Akinyoola Akinyele Lawrence , Orimolade Elkanah Ayodele , Yusuf Moruf Babatunde 
Published: October 2008

Background Pathologic or spontaneous fractures are recognised causes of morbidity in children. There is a paucity of data on their aetiology and patterns in African children. Methods A combined retrospective and prospective study of 47 children aged 15 and below with pathologic fractures of long bones seen from January 2000 to December 2006. The setting was the Orthopaedic and Traumatology department of the Obafemi Awolowo University Teaching Hospitals Complex, Ile-Ife, Nigeria. Results A total of 47 patients with a mean age of 5.3 years ± SD with pathologic fractures of 50 long bones were seen and treated. The most commonly affected bones were the femur (28%), tibia (28%) and humerus (26%). Chronic osteomyelitis following inadequately treated acute haematogenous osteomyelitis was the commonest cause of pathologic fractures (74.5%). The mean duration of fracture union was 6.8 ± 2.3 months and the outcome was satisfactory in 91.4% of cases. Conclusions The aetiology of pathologic fractures in the African population is different from their causes in Caucasian children. Chronic osteomyelitis following inadequately treated acute haematogenous osteomyelitis continues to plague many children in our environment.
Differential analgesic effects of morphine and gabapentin on behavioural measures of pain and disability in a model of osteoarthritis pain in rats
Authors: Vonsy Jean Laurent , Ghandehari Javid , Dickenson Anthony Henry 
Published: October 2008

ABSTRACTOsteoarthritis (OA) is associated with chronic debilitating joint pain. Pain is the result of an emotional and sensory experience and preclinical models of OA can thus be useful to better understand the underlying mechanisms of the disease and test new therapeutic options.We induced unilateral knee OA in Sprague‐Dawley rats using monosodium iodoacetate (MIA), a glycolysis inhibitor and assessed the effects of acute and chronic morphine and gabapentin using a battery of quantitative behavioural outcome measures of pain and disability.Animals received a single intra‐articular injection of 2mg MIA in 25μl saline, causing inflammation and progressive cartilage degradation. Mechanical and thermal sensitivity as well as ambulatory‐evoked pain were then monitored using von Frey hairs, acetone and a rotarod. Once maximum nociceptive responses were reached, chronic bi‐daily morphine (3mg/kg s.c.) or gabapentin (30mg/kg s.c.) were administered for 5 days.We observed a marked biphasic mechanical hypersensitivity that increased and reached a plateau from day 14 (317.6% of control response, p<0.01, with von Frey 6g). Moreover we found a marked cooling hypersensitivity, and validated a novel ambulatory‐evoked pain score. These measures were significantly reduced after both acute (13.3% of sham response, p<0.01, von Frey 6g) and chronic (38.3%, p<0.05) morphine whilst only chronic gabapentin (37.0%, p<0.05) had an effect.We show the reliability of the model in terms of mechanical hypersensitivity and demonstrate cooling hypersensitivity and ambulatory‐evoked pain. In terms of translational research, the effects of morphine and gabapentin validate the model and suggest trials of these therapeutic approaches in OA patients.
How to avoid iatrogenic morbidity and mortality while increasing availability of oxytocin and misoprostol for PPH prevention?
Authors: Lovold Ann , Stanton Cynthia , Armbruster Deborah 
Published: October 2008

AbstractObjectiveIncreased availability of oxytocin and misoprostol is needed to reduce the risk of postpartum hemorrhage. This review compiles rates and risks of adverse maternal and perinatal outcomes associated with use of these medications for labor induction and augmentation in low‐income countries. Recommendations are proposed based on the findings.MethodsWe did a structured literature review using 5 databases followed by analysis of induction and augmentation rates from existing data.ResultsCombined induction and augmentation rates were documented in up to 50% of hospital‐based deliveries identified in the databases. Data are sparse but suggest associations between induction/augmentation and stillbirth, neonatal resuscitation, and uterine rupture, and inappropriate administration of oxytocin and misoprostol both outside and inside healthcare systems in low‐income countries.ConclusionsGuidelines for labor induction/augmentation are needed specifically for low resourced settings. Rigorous studies should be pursued to quantify the magnitude and effect of inappropriate induction and augmentation on maternal and perinatal morbidity and mortality. Programs are needed to ensure community‐wide awareness of the adverse effects of the improper use of these drugs on mothers and babies, especially in out‐of‐hospital settings.
Care‐seeking behavior of women with reproductive health problems from low‐income areas of Beirut
Authors: El‐Kak Faysal , Khawaja Marwan , Salem Myelene , Zurayk Huda 
Published: October 2008

AbstractObjectiveTo examine the patterns of care‐seeking behavior and provider choice of women with self‐reported reproductive health problems from 3 urban communities in Beirut.MethodsThe study was based on a sample of 1869 completed questionnaires from 2051 eligible women (married or had been married, and between 15 and 59 years) obtained during the Urban Health Survey. Associations between community of residence, other background characteristics, and two outcome measures (health care usage and choice of provider) were assessed using logistic regression.ResultsOf the 1869 women assessed, 439 (23.5%) reported reproductive health problems; of these, 273 (62%) women sought care for their problems, with the majority (52.5%) using private providers. Younger age, health insurance, and severity and duration of problems were associated with use. Women with higher parity and those with financial problems were significantly more likely to use public and subsidized services.ConclusionThe private health sector needs to be more involved in planning, implementing, and offering reproductive health care in low‐income communities.
Reversing privatization, rebalancing government reform: Markets, deliberation and planning
Authors: Warner Mildred E 
Published: October 2008

AbstractThe last decades of the 20th century witnessed a profound experiment to increase the role of markets in local government service delivery. However, that experiment has failed to deliver adequately on efficiency, equity or voice criteria. This has led to reversals. But this reverse privatization process is not a return to the direct public monopoly delivery model of old. Instead it heralds the emergence of a new balanced position which combines use of markets, deliberation and planning to reach decisions which may be both efficient and more socially optimal.