bluuebunny/crossref_metadata_2025_split huggingface dataset:
Influences of amino acid features of glutathione S‐transferase fusion proteins on their solubility
Authors: Shimada Kiyo , Nagano Mihoko , Kawai Makoto , Koga Hisashi 
Published: September 2005

AbstractWe have previously described our strategy for high‐throughput (HT) production of recombinant antigens for anti‐mKIAA antibody generation, which involves using shotgun fragments generated during entire sequencing of mKIAA cDNAs. We applied this strategy to 1628 mouse KIAA (mKIAA) cDNA fragments, and 84.2% of the GST‐mKIAA fusion proteins were successfully purified. The solubility of the proteins was predicted by a small‐scale bacterial culture, and a large‐scale culture was then performed according to the expected results. Among them, 43.8% of the proteins were purified as a soluble form and 56.2% as an insoluble form. The average yield of the soluble proteins was 0.15 nmol/mL of bacterial culture, and that of the insoluble proteins was 0.55 nmol/mL Statistical analysis of the data revealed a significant correlation between amino acid features of the recombinant proteins and their solubility. To achieve the most effective and feasible protein expression, we constructed a decision tree in which the analyzed data were reflected. The information described here may provide practical guidelines for HT production of recombinant proteins.
In situ REM and ex situ SPM studies of silicon (111) surface
Authors: Aseev A. L. , Kosolobov S. S. , Latyshev A. V. , Song Se Ahn , Saranin A. A. , Zotov A. V. , Lifshits V. G. 
Published: September 2005

AbstractCombination of experimental methods, including ultrahigh vacuum in situ reflection electron microscopy, scanning tunnelling microscopy and atomic force microscopy, has been applied for analysis of surface structure and dynamic processes on silicon (111) surfaces during sublimation, rapid temperature cooling, oxygen reactions and metal‐silicon surface phase formation. From analysis of triangular negative islands, 0.08 nm in depth, which were forming during quenching, it was deduced the effective activation energy of the island generation is equalled to ≈0.35 eV and made conclusion that the (1 × 1) ⇒ (7 × 7) phase transition on Si(111) assumes to be responsible for the negative island nucleation. On the base of the in situ REM study, the dependence of step motion, initiated by surface vacancies generation during oxygen‐silicon interaction, on the terrace width was measured. Peculiarities of the initial stages of silicon surface oxidation at low pressures were considered. From precision measurements, the top silicon atom density was determined for the metal‐silicon surface phase formed during Na, Ca, Mg and Ag deposition on clean silicon (111) surface. (© 2005 WILEY‐VCH Verlag GmbH & Co. KGaA, Weinheim)
High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease
Authors: Hauser A. C. , Gessl A. , Lorenz M. , Voigtländer T. , Födinger M. , Sunder‐Plassmann G. 
Published: September 2005

SummaryAnderson–Fabry disease is a rare lysosomal storage disorder. It results from a deficiency of the lysosomal α‐galactosidase A and leads to progressive accumulation of globotriaosylceramide in the endothelium and tissue cells of various organs. Some of the typical clinical findings such as tiredness, dry skin, myalgia and arthralgia as well as vague gastrointestinal complaints are also symptoms of hypothyroidism. Therefore, we studied the thyroid function in patients with Anderson–Fabry disease. Thyroid function was studied in 11 patients (6 female, 5 male) with Anderson–Fabry disease by measuring thyroid‐stimulating hormone (TSH) and free thyroxine serum levels. Nine patients had chronic kidney disease with stage 1 and two with stage 5. Subclinical hypothyroidism (normal serum free thyroxine concentrations along with elevated serum TSH levels) was found in 4 of 11 patients (36.4%). Subclinical hypothyroidism was observed in both male and female patients as well as in patients with stage 1 and stage 5 kidney disease. Subclinical hypothyroidism is a common finding in patients with Anderson–Fabry disease, showing an excess prevalence as compared to the normal population. The high frequency seems to be relevant regarding the potential consequences of a hypothyroid state.
Clinical and biochemical presentation of siblings with COG‐7 deficiency, a lethal multiple O‐ and N‐glycosylation disorder
Authors: Spaapen L. J. M. , Bakker J. A. , van der Meer S. B. , Sijstermans H. J. , Steet R. A. , Wevers R. A. , Jaeken J. 
Published: September 2005

SummaryCongenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in plasma were found, though total sialic acid in plasma was strongly decreased. Isoelectric focusing of serum sialotransferrins showed a type 2‐like CDG pattern. Some of the known CDG subtypes were excluded. O‐Glycosylation was investigated by isoelectric focusing of apolipoprotein C‐III, which showed increased fractions of hyposialylated isoforms. In a consecutive study a defect in the conserved oligomeric Golgi complex was established at the level of subunit COG‐7, leading to disruption of multiple glycosylation functions of the Golgi. This report on patients with a new variant of CDG, due to a multiple Golgi defect, emphasizes in addition to sialotransferrins the importance of analysis of a serum O‐linked glycoprotein, e.g. apolipoprotein C‐III, in unclassified CDG‐X cases.
Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy
Authors: Ciana G. , Addobbati R. , Tamaro G. , Leopaldi A. , Nevyjel M. , Ronfani L. , Vidoni L. , Pittis M. G. , Bembi B. 
Published: September 2005

SummaryThe usefulness of bone turnover markers in Gaucher disease is still unclear and their utility in monitoring the effects of enzyme replacement therapy (ERT) on bone metabolism has not yet been investigated exhaustively. Skeletal involvement seems to improve slowly during ERT, but only a few studies evaluating bone mineral density (BMD) changes during a long follow‐up period have been reported. The aim of this study was to assess the efficacy of ERT on bone involvement in a group of 12 type I Gaucher disease (GD I) patients by monitoring biochemical indices of bone resorption/formation and BMD measured by dual energy x‐ray absorptiometry (DEXA). Serum (calcium, phosphorus, bone alkaline phosphatase isoenzyme, carboxyterminal propeptide of type I procollagen (PICP), carboxyterminal telopeptide of type I collagen (ICTP), osteocalcin, intact parathyroid hormone) and urinary (calcium, phosphorus, hydroxyproline and free deoxypyridinoline) markers of bone metabolism and lumbar BMD were measured at baseline, after 6 and 12 months, and then every year for a mean ERT follow‐up period of 4.5 years (range 4.4–6 years). Twelve healthy adult subjects matched for age and sex were tested as negative controls. A significant decrease of PICP was detected in the patient group at baseline (mean value 100.52 ng/ml vs 142.45 ng/ml, p = 0.017), while ICTP was remarkably higher: mean value 3.93 ng/ml vs 2.72 ng/ml, p = 0.004 (two‐sided Student's t‐test). No changes in bone formation indices were observed during the follow‐up period, while urinary calcium excretion increased significantly from 0.065 to 0.191 mg/mg creatinine (p = 0.0014) (repeated measures ANOVA). A significant BMD improvement was also detected after an average ERT period of 4.5 years: Z‐score increased from −0.81 to −0.56 (p = 0.005) (two‐sided Student's t‐test). These data evidenced the ineffectiveness of the biochemical markers used in monitoring ERT efficacy in GD I skeletal involvement, whereas DEXA was demonstrated to be a reliable method with which to follow up BMD improvement.
Benzoate treatment and the glycine index in nonketotic hyperglycinaemia
Authors: Van Hove J. L. K. , Kerckhove K. Vande , Hennermann J. B. , Mahieu V. , Declercq P. , Mertens S. , De Becker M. , Kishnani P. S. , Jaeken J. 
Published: September 2005

SummaryHigh‐dose benzoate treatment aimed at reducing plasma glycine levels to normal reduces seizures and increases wakefulness in patients with nonketotic hyperglycinaemia (NKH). Since benzoate metabolism is dependent on the available glycine pool, and since the glycine pool is variably affected by the deficiency in the glycine cleavage enzyme system, we examined the importance of interpatient variability in benzoate requirement. To correct for the dietary glycine contribution, the glycine index was introduced as the molar requirement of benzoate dose necessary to normalize plasma glycine levels and subtracting from that the dietary glycine intake, both corrected for weight. The glycine index varied between 3.62 and 4.87 mmol/kg per day in five patients with a poor neurodevelopmental outcome and between 0.92 and 1.90 mmol/kg per day in four patients with a better neurodevelopmental outcome, and was 2.54 mmol/kg per day in a single patient with an intermediate outcome. The glycine index was stable over time within each patient. Exceeding the balance by either increasing food glycine intake or decreasing the benzoate dose resulted in increased glycine levels. Exceeding the glycine tolerance by increasing benzoate resulted in elevated and toxic levels of benzoate. The glycine index is a stable, individually specific parameter in patients with NKH. It has clinical consequences for the dose of benzoate required and the role of dietary management. Through its correlation with neurodevelopmental outcome, the glycine index points to potential genetic factors that could contribute to the psychomotor retardation in NKH.
The ratio of α‐galactosidase to β‐glucuronidase activities in dried blood for the identification of female Fabry disease patients
Authors: Lukacs Z. , Keil A. , Kohlschütter A. , Beck M. , Mengel E. 
Published: September 2005

SummaryFemale heterozygous patients with Fabry disease are difficult to identify because of the relatively high residual activity of α‐galactosidase. We systematically evaluated the activities of various lysosomal enzymes in dried blood samples from Fabry patients and found that the β‐glucuronidase activity was frequently elevated. The ratio of α‐galactosidase to β‐glucuronidase proved to be a helpful tool for the diagnosis of female Fabry disease patients.
Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II
Authors: Kato Y. , Ihara K. , Miyako K. , Kuhara T. , Inoue Y. , Hara T. 
Published: September 2005

SummaryWe report a 4‐year‐old boy with hyperprolinaemia type II presenting acute encephalopathy associated with influenza virus type A infection. This case suggests that hyperprolinaemia may cause acute encephalopathy under certain conditions.
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
Authors: Cleary M. A. , Dorland L. , de Koning T. J. , Poll‐The B. T. , Duran M. , Mandell R. , Shih V. E. , Berger R. , Olpin S. E. , Besley G. T. N. 
Published: September 2005

SummaryWe describe two unrelated cases of ornithine aminotransferase (OAT) deficiency with rare neonatal presentation of hyperammonaemia. The diagnosis in the neonatal presentation of OAT deficiency is hampered as hyperornithinaemia is absent. Enzyme and mutation studies confirmed the diagnosis. OAT deficiency should be included in differential diagnosis of neonatal hyperammonaemia.
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
Authors: Morava E. , Wortmann S. B. , van Essen H. Zweers , van Sambeek R. Liebrand , Wevers R. , van Diggelen O. P. 
Published: September 2005

SummaryPatients with glycogen storage disease type IXa present with infantile hepatomegaly and a specific growth pattern, and variable biochemical alterations in blood. We studied the clinical and biochemical characteristics including the urinary oligosaccharide excretion of seven unrelated children. The urinary tetraglucoside excretion was increased in four children, three of whom had persistently high cholesterol and triglyceride concentrations. We propose screening for urine tetraglucoside excretion and the measurement of serum cholesterol in patients with growth delay and/or hepatomegaly to assess a possible glycogenosis.
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
Authors: van Diggelen O. P. , Voznyi Ya. V. , Keulemans J. L. M. , Schoonderwoerd K. , Ledvinova J. , Mengel E. , Zschiesche M. , Santer R. , Harzer K. 
Published: September 2005

Summary6‐Hexadecanoylamino‐4‐methylumbelliferylphosphorylcholine (HMUPC) was shown to be a specific substrate for the determination of acid (lysosomal) sphingomyelinase (ASM; gene SMPD1). Fibroblasts (n = 27) and leukocytes (n = 8) from both the A and B types of Niemann–Pick disease showed < 6% and < 10% of mean normal ASM activity, respectively. Niemann–Pick A or B” appears to be used with a very specific meaning. The Summary should be able to stand entirely alone from the text: should the use of this notation be expanded/explained more fully here in the Summary [or is the phrase “bearing the Q292K mutation” sufficient]?} patients bearing the Q292K mutation had apparently normal ASM activity with our new artificial substrate. These patients with false‐normal sphingomyelinase activity, however, could readily be detected by determining the extent of inhibition of enzymatic hydrolysis of the artificial substrate HMU‐PC by an unlabelled natural substrate, in particular lysosphingomyelin. This approach is generally applicable. Our novel assay for ASM combines the ease of a rapid and robust enzyme assay using a fluorogenic substrate with the specificity of an ASM assay using a natural substrate. Such assays are obviously more convenient to the diagnostic laboratory, since radiolabelled substrates are not required.
International supply relationships and non‐financial performance—A comparison of U.S. and German practices
Authors: Kaufmann Lutz , Carter Craig R. 
Published: September 2005

AbstractDespite the fact that the international trade of goods continues to steadily increase, international supply management for manufacturing still represents a largely under‐researched topic. These omissions in the extant literature include a lack of focus upon the factors affecting the performance outcomes of international sourcing. This article examines the antecedents of the supply management performance of international buyer–supplier relationships. It does so from the perspective of the buying organization. The authors develop an integrative framework based on game theory and exchange theory, and linked with the resource dependence approach and transaction cost theory. Specifically, the relationships between four constructs are examined: the multi‐dimensional construct of uncertainty, the game‐theoretical construct of the shadow of the future, the exchange‐theoretical construct of social bonding, and supply management performance. Based on large‐scale surveys with supply managers, the framework is tested in a cross‐national study in the U.S. and in Germany.
Bacteriemia During Mastoidectomy and/or Tympanoplasty
Authors: Keleş Erol , Kizirgil Ahmet , Kaygusuz Irfan , Karlidaĝ Turgut , Yalçin Şinasi , Alpay Hayrettin Cengiz , Demir Yavuz Selim 
Published: September 2005

OBJECTIVETo investigate the risk of bacteriemia development during surgery in patients who underwent mastoidectomy and/or tympanoplasty for chronic otitis media.PATIENTS AND METHODSA total of 59 patients with chronic otitis media who were undergoing tympanoplasty operation with or without mastoidectomy were enrolled in this study. Smear cultures were obtained from outer ear canal and/or middle ears of all patients before the operation. Venous blood samples were obtained before and after the operation for bacteriologic analysis. Smear cultures were also obtained from the pressure dressing material that was applied during the operation for retrieval of the outer ear canal pressure.RESULTSThere was a 13.5% difference between the outer ear canal and/or middle ear smear cultures and ear pressure dressing smear cultures of the same case. There was no growth in the blood cultures obtained before tympanoplasty in any of the involved cases, however, in 5 (8.4%) of the culture samples obtained immediately after the tympanoplasty operation, there was bacteriemia. In the pressure dressing smear cultures obtained after the operation, 11 patients had microbial growth.CONCLUSIONRisk of bacteriemia should be considered in the preoperative period for the patients undergoing mastoidectomy especially in patients with cardiovascular diseases, this is of importance for the dramatic consequences that might arise after the operation. We also think that bacteriemia is also one of the factors that influences graft success rate.
Benefits Resulting from 1‐and 6‐Hour Parathyroid Hormone and Calcium Levels After Thyroidectomy
Authors: Payne Richard J. , Tewfik Marc A. , Hier Michael P. , Tamilia Michael , Namara Elizabeth Mac , Young Jonathan , Black Martin J. 
Published: September 2005

OBJECTIVEPrevious studies have established the efficacy of post‐thyroidectomy hypocalcemia monitoring using parathyroid hormone (PTH) and corrected calcium levels at 1 and 6 hours. The goal of this study was to measure the impact of managing patients based on the above findings with respect to: duration of hospital stays, rates of transient hypocalcemia, number of blood tests, cost savings, and discharge from the hospital as early as 8 hours post‐thyroidectomy without compromising safety.STUDY DESIGN AND SETTINGThis is a prospective study involving 95 total thyroidectomy patients using historical data as controls. The previous protocol was modified in that all blood tests ceased for patients meeting the 6‐hour critical level of PTH ≥ 28 ng/L and simultaneous corrected calcium ≥ 2.14 mmol/L (8.56 mg/dL). Furthermore, patients with 1‐hour PTH levels ≤ 8 ng/L were prophylactically treated with calcium and vitamin D supplementation.RESULTSThis study demonstrates lower rates of transient hypocalcemia from 28% to 9% (OR = 4.13, P = 0.016), a 10‐hour reduction in mean hospital stay, and fewer blood tests (23 vs 15) for patients undergoing total thyroidectomy since the implementation of the new protocol. Furthermore, the experimental protocol resulted in an average cost savings of $766 per patient.CONCLUSIONSThe new algorithm resulting from PTH and corrected calcium monitoring at 1 and 6 hours post‐thyroidectomy has led to significant cost savings for our institution. It has also translated into greater patient satisfaction as a result of fewer blood tests, a lower incidence of transient hypocalcemia, and significantly shorter hospital stays.
Patterns of Use of Facial Nerve Monitoring During Parotid Gland Surgery
Authors: Lowry Thomas R. , Gal Thomas J. , Brennan Joseph A. 
Published: September 2005

OBJECTIVETo determine current patterns of use of facial nerve monitoring during parotid gland surgery by otolaryngologists in the United States.STUDY DESIGN AND SETTINGA questionnaire encompassing surgeon training background, practice setting, patterns of facial nerve monitor usage during parotid gland surgery, and history of permanent facial nerve injury or legal action resulting from parotid surgery was mailed to 3139 otolaryngologists in the United States. Associations between facial nerve monitor usage and dependent variables were examined by using the χ2 test. Magnitudes of the associations were determined from odds ratios calculated using logistic regression.RESULTSA 49.3% questionnaire response rate was achieved. Sixty percent of respondents who perform parotidectomy employed facial nerve monitoring some or all of the time. Respondents were 5.6 times more likely to use the monitor in practice if they used it in training and 79% more likely to use it if they performed more than 10 parotidectomies per year. Respondents were 35% less likely to have a history of inadvertent nerve injury if they performed more than 10 parotidectomies per year. Surgeons who employed monitoring in their practice were 20.8% less likely to have a history of a parotid surgery‐associated lawsuit. Additional information regarding surgeon demographics, types of nerve monitors used, and reasons for and against monitor usage are discussed.CONCLUSIONPermanent facial nerve paralysis after parotidectomy occurs in 0‐7% of cases. Currently, a majority of otolaryngologists in the United States are employing facial nerve monitoring during parotid surgery some or all of the time, even though no studies to date have demonstrated improved outcomes with its use. Physician training background and surgery caseload were significant factors influencing usage of facial nerve monitoring in this study.
Head Position Dependency of Induced Nystagmus to Ice‐Water Irrigation in Peripheral Vestibulopathy
Authors: Choi Byung Yoon , Koo Ja‐Won , Oh Seung Ha , Chang Sun O. , Kim Chong‐Sun 
Published: September 2005

OBJECTIVEEvaluation of head‐position dependency during the ice‐water test is essential when the test is indicated. Because ice‐water irrigation (IWI) in the prone position is frequently skipped in many laboratories, we investigated the importance of evaluating position dependency in an ice‐water test.DESIGN AND SETTINGTwenty‐five unilateral peripheral vestibulopathy patients showing no nystagmus during warm irrigation were included. IWI was performed in supine and prone positions, and maximum slow‐phase velocity and direction of nystagmus were assessed by using video nystagmography.RESULTSEleven cases showed head‐position dependency and were interpreted as hypofunctional. Fourteen cases showed no dependency, suggesting the absence of end organ function. In the latter group, 6 patients showing definite nystagmus in supine position could have been misinterpreted as hypofunctional, had it not been for prone‐position results.CONCLUSIONSEvaluation of head position dependency by using IWI is important in the determination of lateral semicircular canal function.
Growth and Phenotype of Low‐Density Nasal Septal Chondrocyte Monolayers
Authors: Hicks David L. , Sage August B. , Schumacher Barbara L. , Sah Robert L. , Watson Deborah 
Published: September 2005

OBJECTIVETo analyze the growth patterns and differentiation of human septal chondrocyte monolayers of different seeding densities.STUDY DESIGNChondrocytes from 8 donors were plated at densities ranging from 20,000 cells/cm2 (high density) to 300 cells/cm2 (very low density). Confluency, cellularity, and glycosaminoglycan content were determined from days 1 to 15.RESULTSConfluency was attained at 5.8, 8.3, 11.0, and 14.8 days for high‐, intermediate‐, low‐, and very low‐density monolayers, respectively (P >0.001). Regression growth curves showed typical lag, logarithmic, and stationary phases. Confluent monolayers attained similar cellularity (power = 0.94) and differentiation (power = 0.88), regardless of initial density.CONCLUSIONSHuman septal chondrocyte monolayers reach confluency from very low initial densities. Growth patterns, cellularity, and differentiation are similar to other starting densities.SIGNIFICANCEVery low‐density monolayers expanded cell number 838‐fold in 1 passage and therefore are sufficient for tissue‐engineering purposes. This is important because of the requirement of maintaining differentiation and the limitation of small tissue harvest specimens.