bluuebunny/crossref_metadata_2025_split huggingface dataset:
Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development
Authors: Baxter M. A. , Wynn R. F. , Schyma L. , Holmes D. K. , Wraith J. E. , Fairbairn L. J. , Bellantuono I. 
Published: January 2006

SummaryBone marrow transplantation is the therapy of choice in patients affected by MPS I (Hurler syndrome), but a high incidence of rejection limits the success of this treatment. The deficiency of α‐L‐iduronidase (EC 1.2.3.76), one of the enzymes responsible for the degradation of glycosaminoglycans, results in accumulation of heparan and dermatan sulphate in these patients. Heparan sulphate and dermatan sulphate are known to be important components of the bone marrow microenvironment and critical for haematopoietic cell development. In this study we compared the ability of marrow stromal cells from MPS I patients and healthy donors to support normal haematopoiesis in Dexter‐type long term culture. We found an inverse stroma/supernatant ratio in the number of clonogenic progenitors, particularly the colony‐forming unit granulocyte–machrophage in MPS I cultures when compared to normal controls. No alteration in the adhesion of haematopoietic cells to the stroma of MPS I patients was found, suggesting that the altered distribution in the number of clonogenic progenitors is probably the result of an accelerated process of differentiation and maturation. The use of α‐L‐iduronidase gene‐corrected marrow stromal cells re‐established normal haematopoiesis in culture, suggesting that correction of the bone marrow microenvironment with competent enzyme prior to transplantation might help establishment of donor haematopoiesis.
Normal very‐long‐chain fatty acids in peroxisomal D‐bifunctional protein deficiency: A diagnostic pitfall
Authors: Soorani‐Lunsing R. J. , van Spronsen F. J. , Stolte‐Dijkstra I. , Wanders R. J. , Ferdinandusse S. , Waterham H. R. , Poll‐The B. T. , Rake J. P. 
Published: January 2006

SummaryWe present a relatively mild case of peroxisomal D‐bifunctional protein deficiency with inconsistent screening results in plasma for peroxisomal disorders.
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment
Authors: Ormazabal A. , Vilaseca M. A. , Pérez‐Dueñas B. , Lambruschini N. , Gómez L. , Campistol J. , Artuch R. 
Published: January 2006

SummaryTetrahydrobiopterin (BH4) supplementation has been applied in PKU treatment, resulting in successful control of blood phenylalanine (Phe) concentrations. We evaluated serotonin status in PKU patients under classical dietary treatment (n = 40) and in a group of 11 PKU patients under BH4 treatment, both during a 6‐month period. Platelet serotonin values were significantly lower in PKU patients under dietary treatment when compared with controls. A negative correlation was observed between plasma Phe and platelet serotonin concentrations (r = −0.367, p = 0.017) in PKU patients. Platelet serotonin concentration increased significantly after both 1 and 6 months of BH4 therapy when compared with baseline conditions (Wilcoxon test: p = 0.013 and p = 0.021, respectively), while no differences were observed when comparing plasma Phe concentrations at the different points. Our results indicate that PKU patients under classical treatment have decreased platelet serotonin concentrations, probably owing to continued high Phe values, while BH4 supplementation restored platelet serotonin values.
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency
Authors: Sykut‐Cegielska J. , Jurecka A. , Taybert J. , Gradowska W. , Pajdowska M. , Pronicka E. 
Published: January 2006

SummaryWe report a 3‐year‐old boy with glutathione synthetase deficiency, who in the newborn period developed severe persistent haemolytic anaemia. Treatment with erythropoietin was introduced with good clinical and haematological response.
Social outcome in treated individuals with inherited metabolic disorders: UK study
Authors: Bhat M. , Haase C. , Lee P. J. 
Published: January 2006

SummaryFew data exist on the long‐term social outcome of patients with inherited metabolic disorders, despite the fact that increasing numbers are surviving into adulthood. Here we report the findings of 329 patients aged from 11 to 70 years, of whom 172 had phenylketonuria, 38 had homocystinuria and 33 had galactosaemia. Twenty‐eight per cent had no formal education qualifications, 59% were employed, but only 17% were in professional jobs (social classes I and II). The time of diagnosis and treatment had a significant impact on outcome in phenylketonuria, as did pyridoxine responsiveness or lack of it in homocystinuria. Effects on outcome in galactosaemia were not clear. Social integration is an important outcome of treatment of chronic disorders in childhood and warrants further study in this growing patient population.
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
Authors: Baykal T. , Gokcay G. , Gokdemir Y. , Demir F. , Seckin Y. , Demirkol M. , Jensen K. , Wolf B. 
Published: January 2006

SummaryWe report 32 biotinidase‐deficient patients detected by family studies in the index cases. The study group consisted of 10 mothers, 4 fathers and 18 siblings. There were 17 individuals (3 mothers, 4 fathers and 10 siblings) with profound biotinidase deficiency (BD) (< 10% of mean normal activity) and 15 (7 mothers and 8 siblings) with partial BD (10–30% of mean normal activity). In the profound BD group, only three siblings were symptomatic. Dermatitis, microcephaly, developmental delay and convulsions were observed. The patients with partial BD did not have any clinical symptoms except one sibling with borderline IQ score. None of the parents was symptomatic. Family investigation of patients with BD is very important for the detection of asymptomatic patients who are at risk of exhibiting symptoms at any age. Careful evaluation of these untreated individuals with BD is important to obtain additional information about the natural history of this disorder and may provide clues to phenotype–genotype relationships and treatment regimes.
Congenital disorder of glycosylation type Ia in a 6‐year‐old girl with a mild intellectual phenotype: Two novel PMM2 mutations
Authors: Coman D. , Klingberg S. , Morris D. , McGill J. , Mercer H. 
Published: January 2006

SummaryWe report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.
Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
Authors: Raghavan S. , Zeng B. , Torres P. A. , Pastores G. M. , Kolodny E. H. , Kurtzberg J. , Krivit W. 
Published: January 2006

SummaryGloboid cell leukodystrophy is an inherited metabolic disorder of the central nervous system caused by deficiency of the lysosomal enzyme galactocerebrosidase. Haematopoietic stem cell transplantation is the only available effective treatment. The engraftment from normal donors provides competent cells able to correct the metabolic defect. Umbilical cord blood cells have proved to significantly decrease complications and improve engraftment rate compared to adult marrow cells in haematopoietic stem cell transplantation. Umbilical cord blood cells must be of sufficient activity to provide central nervous system recovery after engraftment is obtained.Galactocerebrosidase activity is known to be affected by two polymorphic alleles found at nucleotides 502 and 1637 of the cDNA for this gene. This enzyme activity and the polymorphic alleles noted above were analysed in 83 random samples of umbilical cord blood. The activity, assayed with the fluorogenic substrate 6‐hexadecanoylamino‐4‐methylumbelliferyl‐β‐galactopyranoside, in those with neither polymorphic allele was 4.6 ± 1.7 units (nmol/h per mg protein). This optimal choice of cord blood was found in only 24% of specimens. Homozygotes for 1637T > C with activity of only 1.5 ± 0.4 units represented 16% of the samples. Those heterozygous for 1637T > C with slightly better activity (2.3 ± 0.7 units) represented 52% of the samples. Choice of umbilical cord blood for haematopoietic stem cell transplantation, therefore, requires consideration not only of cell quantity and HLA compatibility but also selection for normal alleles to obtain maximal enzymatic activity for central nervous system correction.
Severe hypoglycaemia in isolated 3‐methylcrotonyl‐CoA carboxylase deficiency; a rare, severe clinical presentation
Authors: Oude Luttikhuis H. G. M. , Touati G. , Rabier D. , Williams M. , Jakobs C. , Saudubray J. M. 
Published: January 2006

SummarySince the introduction of neonatal screening for branched‐chain organic acidurias, it has been noted that isolated 3‐methylcrotonyl‐CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life‐threatening complication.
The redox couple of the cytochrome c cyanide complex: The contribution of heme iron ligation to the structural stability, chemical reactivity, and physiological behavior of horse cytochrome c
Authors: Schejter Abel , Ryan Michael D. , Blizzard Erica R. , Zhang Chongyao , Margoliash Emanuel , Feinberg Benjamin A. 
Published: January 2006

AbstractContrary to most heme proteins, ferrous cytochrome c does not bind ligands such as cyanide and CO. In order to quantify this observation, the redox potential of the ferric/ferrous cytochrome c–cyanide redox couple was determined for the first time by cyclic voltammetry. Its E0′ was −240 mV versus SHE, equivalent to −23.2 kJ/mol. The entropy of reaction for the reduction of the cyanide complex was also determined. From a thermodynamic cycle that included this new value for the cyt c cyanide complex E0′, the binding constant of cyanide to the reduced protein was estimated to be 4.7 × 10−3 LM−1 or 13.4 kJ/mol (3.2 kcal/mol), which is 48.1 kJ/mol (11.5 kcal/mol) less favorable than the binding of cyanide to ferricytochrome c. For coordination of cyanide to ferrocytochrome c, the entropy change was earlier experimentally evaluated as 92.4 Jmol−1K−1 (22.1 e.u.) at 25 K, and the enthalpy change for the same net reaction was calculated to be 41.0 kJ/mol (9.8 kcal/mol). By taking these results into account, it was discovered that the major obstacle to cyanide coordination to ferrocytochrome c is enthalpic, due to the greater compactness of the reduced molecule or, alternatively, to a lower rate of conformational fluctuation caused by solvation, electrostatic, and structural factors. The biophysical consequences of the large difference in the stabilities of the closed crevice structures are discussed.
Use of hydroxy‐methyl‐glutaryl coenzyme A reductase inhibitors is associated with risk of lymphoid malignancies
Authors: Iwata Hiroshi , Matsuo Keitaro , Hara Shigeo , Takeuchi Kengo , Aoyama Tomonori , Murashige Naoko , Kanda Yoshinobu , Mori Shin‐ichiro , Suzuki Risturo , Tachibana Shintaro , Yamane Masaaki , Odawara Masato , Mutou Yoshitomo , Kami Masahiro 
Published: January 2006

It has been speculated that the use of hydroxy‐methyl‐glutaryl coenzyme A reductase inhibitors (statins) is associated with the risk of malignant diseases. Considering their immunosuppressive activities, malignant diseases that are associated with an immunosuppressive status seem feasible to examine the association. We therefore examined the association between statin use and development of lymphoid malignancies in a case‐control study. Cases were 221 consecutive incident cases with histopathologically proven lymphoid malignancies (lymphoma and myeloma), hospitalized in the Department of Hematology of Toranomon Hospital (Tokyo, Japan) between 1995 and 2001. Two independent control groups, comprising 442 and 437 inpatients without malignancies from the Departments of Orthopedics and Otorhinolaryngology of the same hospital, were selected to test for consistency of association. Controls were matched individually with cases for age, sex and year of admission. Subject information, including statin use, was abstracted from medical records at the time of hospitalization. Strength of association was evaluated as an adjusted odds ratios (aOR) using a conditional logistic regression model. A higher frequency of statin use was found among patients with lymphoid malignancies in comparison with both orthopedic (aOR 2.11, 95% CI 1.20–3.69, P = 0.009) and otorhinolaryngology patients (aOR 2.59, 95% CI 1.45–4.65, P = 0.001), the significance being maintained when the two control groups were combined (aOR 2.24, 95% CI 1.37–3.66, P = 0.001). In conclusion, we observed an elevated risk of lymphoid malignancy with statin use among Japanese patients. Further evaluations in different populations are required to draw conclusions as to the carcinogenicity of lymphoid malignancies with statin use. (Cancer Sci 2006; 97: 133 –138)
Attention deficit hyperactivity disorder: a review of the essential facts
Authors: Daley D. 
Published: January 2006

AbstractAttention deficit hyperactivity disorder (ADHD) is a complex disorder, where both genetic and environmental influences make a substantial contribution to the risk for the disorder. One of the challenges facing clinicians is to simplify for parents the multifaceted reasons why their child may have developed ADHD, explain the associated symptoms, and encourage parents to participate in intervention. Increasing parents understanding about ADHD should make them better informed about the disorder, more likely to consent to intervention, and increase adherence to both psychosocial and pharmacological treatment. The aim of this review is to provide clinicians with a brief synopsis of our current understanding about the aetiology of ADHD, co‐morbidity and associated problems, developmental course and intervention options.
Prescribing practices of psychiatrists and primary care physicians caring for children with mental illness
Authors: Harpaz‐Rotem I. , Rosenheck R. A. 
Published: January 2006

AbstractObjective  Although several studies have found that the most effective treatment for both youths and adults diagnosed with mood disorders is the combination of psychotherapy and medications, psychiatrists have been increasingly providing psychotropic medications without psychotherapy to these populations. At the same time, primary care physicians (PCPs) have become increasingly involved in prescribing psychotropic medications. This study compared the prescribing patterns of PCPs and psychiatrists caring for children with mental illness.Methods  Data were extracted from the MarketScan® database, which compiles claims from private health insurance plans nationwide. Of 40 639 children who received mental health services during calendar year 2000 (6.33% of all covered children), we identified 5485 who initiated a new episode of treatment. Multiple regression was use to adjust for differences in patient characteristics.Results  While PCPs were more likely to see young children and psychiatrists saw children with more numerous mental illnesses, there were no significant differences between PCPs and psychiatrists in either the proportion of patients who received psychotropic medication, the frequency of clinical contacts, or the dosages or types of medications prescribed. Patients seen in more actively managed Point of Service plans were more likely to receive medication than those seen in preferred provider or indemnity plans.Conclusions  This study found no significant differences between psychiatrists and PCPs in psychotropic prescribing practices. In view of the limited availability of child psychiatrists and the decreased availability of psychotherapy in combination with medications, collaborative care models in which non‐physician mental health specialists and PCPs work together may increase the availability of effective mental health services for youths.
Aggregation among resource patches can promote coexistence in stream‐living shredders
Authors: PRESA ABÓS C. , LEPORI F. , MCKIE B. G. , MALMQVIST B. 
Published: January 2006

Summary1. We conducted a new single‐site study and a meta‐analysis of pre‐existing studies from multiple streams to assess whether intraspecific aggregation among leaf packs promotes coexistence among leaf‐eating invertebrates (shredders) in Swedish streams.2. In the single‐site study, 48 standardised leaf bags were exposed for 1 month for shredder colonisation in a homogeneous glide of a forested stream. Current velocity, water depth and substratum composition were additionally assessed to investigate how these factors affected shredder distributions.3. The meta‐analysis included information on shredder colonisation of leaf packs from seven other studies of detritus decomposition to assess patterns of aggregation. Intra‐ and interspecific aggregation and their relative strength were assessed using indices (J,CandArespectively) originally developed for terrestrial insects also dependent on patchy and ephemeral resources.4. In both parts of the study, intraspecific aggregation was much stronger than interspecific aggregation, which was weak overall, indicating that the conditions under which aggregation is expected to facilitate coexistence were fulfilled in our shredder assemblages.5. In the single‐site study, shredder abundances were weakly associated with environmental variables suggesting that habitat heterogeneity only partly explains aggregation patterns.6. Our results strongly suggest that shredder diversity in streams, particularly during periods of leaf limitation (such as might occur in spring), is promoted by the aggregation of individual species among patches of resource.
Habitat partitioning of native and exotic Daphnia in gradients of temperature and food: mesocosm experiments
Authors: HAVEL JOHN E. , LAMPERT WINFRIED 
Published: January 2006

Summary1. Invasion of tropical zooplankton into temperate lakes provides an interesting opportunity to explore habitat segregation in a thermal gradient.2. We explored differing vertical positioning of native and exotic Daphnia (Daphnia mendotae and Daphnia lumholtzi) in a large indoor mesocosm system (Plön plankton towers) during 2 month‐long experiments. The two towers were manipulated to provide gradients of both temperature (15–29 °C) and algal food (0.05–0.58 mg C L−1) and a day–night cycle.3. Both juvenile and adult D. lumholtzi showed a ‘typical’ vertical migration pattern, with higher densities in the epilimnion at night than during the day. They avoided the food‐poor middle layer. In contrast, D. mendotae adults showed little tendency to migrate into the epilimnion at night, remaining in the cooler hypolimnion while juveniles migrated. The vertical distribution of D. mendotae appeared unaffected by the presence of D. lumholtzi.4. The strong migration behaviour of D. lumholtzi in the absence of fish cues suggests that this behaviour may be a constitutive trait. Habitat partitioning of the two species is probably the result of different thermal tolerances, with D. mendotae constrained to remaining in deeper water by high temperatures in the epilimnion and the tropical D. lumholtzi able to use the warm epilimnion at night.
Dynamic patch mosaics and channel movement in an unconfined river valley of the Olympic Mountains
Authors: LATTERELL JOSHUA J. , SCOTT BECHTOLD J. , O'KEEFE THOMAS C. , VAN PELT ROBERT , NAIMAN ROBERT J. 
Published: January 2006

Summary1. River valleys resemble dynamic mosaics, composed of patches which are natural, transient features of the land surface produced by the joint action of a river and successional processes over years to centuries. They simultaneously regulate and reflect the distribution of stream energy and exchanges of sediment, wood and particulate organic matter between riparian and aquatic environments.2. We determined the structure, composition, dynamics and origin of seven patch types at the reach scale in the Queets River valley in the temperate coastal forests of the Olympic Mountains, Washington (U.S.A.). Patch types included: (1) primary and (2) secondary channels; (3) pioneer bars; (4) developing and (5) established floodplains; and (6) transitional and (7) mature fluvial terraces.3. Lateral channel movements strongly shape patch distribution, structure and dynamics. The primary channel moved laterally 13 m year−1, on average from 1939 to 2002, but was highly variable among locations and over time. Mean lateral movement rates ranged from 1 to 59 m year−1and moving averages (2 km) ranged from 3 to 28 m year−1throughout the valley.4. Each patch type exhibited characteristic vegetation, soil and accumulations of large wood. Pioneer bars contained peak stem density (69 778 stems ha−1) and volume of large wood (289 m3 ha−1). Mature fluvial terraces contained the highest mean stem (1739 m3 ha−1) and canopy volume (158 587 m3 ha−1). These patches also contained the most soil nitrogen (537 kg ha−1) and carbon (5972 kg ha−1).5. Patch half‐life (the time required for half of the existing patches to be eroded) ranged from 21 to 401 years among forested patch types. Erosion rates were highest in pioneer bars (2.3% year−1) and developing floodplains (3.3% year−1), compared with only 0.17% year−1in mature fluvial terraces. New forests formed continually, as pioneering vegetation colonised 50% of the channel system within 18 years, often unsuccessfully.6. In the Queets River, the structure, composition, and dynamics of the patchy riparian forest depends on the interplay between channel movements and biophysical feedbacks between large wood, living vegetation and geomorphic processes. The cycle of patch development perpetuates a shifting‐mosaic of habitats within the river valley capable of supporting diverse biotic assemblages.
Origin and dispersal of bluegill sunfish, Lepomis macrochirus, in Japan and Korea
Authors: KAWAMURA KOUICHI , YONEKURA RYUJI , KATANO OSAMU , TANIGUCHI YOSHINORI , SAITOH KENJI 
Published: January 2006

AbstractThe bluegill sunfish, Lepomis macrochirus, is a notorious exotic species in many freshwater ecosystems, currently expanding its distribution worldwide. In 1960, a small group of bluegills captured in the Mississippi River at Guttenberg in Iowa were imported to Japan as a gift from the mayor of Chicago to the Japanese government. The offspring of these fish were released into the wild in Japan and also in Korea. Over 40 years after this first introduction, L. macrochirus now occupies all the freshwater ecosystems of both countries. We compared invading populations of L. macrochirus in Japan and Korea with native populations in the USA, using PCR–RFLP (polymerase chain reaction–restricted fragment length polymorphism) analyses of mitochondrial DNA, to estimate the origin and dispersal of L. macrochirus in Japan and Korea. Five haplotypes of mitochondrial DNA detected in Japanese and Korean populations completely coincided with the haplotypes of the Guttenberg population. Haplotype diversity of invading populations was shown to be highest in populations established in the 1960s, while genetic variability was lower in more recently established populations. Our results suggest that all L. macrochirus in Japan and Korea have originated from the 15 fish first introduced in 1960. Low haplotype diversity in newly established populations is probably due to genetic drift arising from repeated population bottlenecks, while the high similarity of haplotypes among neighbouring populations is considered to reflect the history of transplantation by humans.