bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel GALNT3 Mutations Causing Hyperostosis-Hyperphosphatemia Syndrome Result in Low Intact Fibroblast Growth Factor 23 Concentrations
Authors: Ichikawa Shoji , Guigonis Vincent , Imel Erik A. , Courouble Mélanie , Heissat Sophie , Henley John D. , Sorenson Andrea H. , Petit Barbara , Lienhardt Anne , Econs Michael J. 
Published: February 2007

Abstract
Context: Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-α-d-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes.
Objective: Our objective was to identify mutations in FGF23 or GALNT3 and determine serum FGF23 levels in an HHS patient.
Design: Mutation detection in FGF23 and GALNT3 was performed by DNA sequencing, and serum FGF23 concentrations were measured by ELISA.
Patients or Other Participants: A 5-year-old French boy with HHS and his family members participated.
Results: The patient presented with painful cortical lesions in his leg. Radiographs of the affected bone showed diaphyseal hyperostosis. The lesional tissue comprised trabeculae of immature, woven bone surrounded by fibrous tissue. Biochemistry revealed elevated phosphate, tubular maximum rate for phosphate reabsorption per deciliter of glomerular filtrate, and 1,25-dihydroxyvitamin D levels. The patient was a compound heterozygote for two novel GALNT3 mutations. His parents and brother were heterozygous for one of the mutations and had no biochemical abnormalities. Intact FGF23 level in the patient was low normal, whereas C-terminal FGF23 was elevated, a pattern similar to TC.
Conclusion: The presence of GALNT3 mutations and elevated C-terminal, but low intact serum FGF23, levels in HHS resemble those seen in TC, suggesting that HHS and TC are different manifestations of the same disorder. The absence of biochemical abnormalities in the heterozygous individuals suggests that one normal allele is sufficient for secretion of intact FGF23.
Uncomplicated Type 1 Diabetes Is Associated with Increased Asymmetric Dimethylarginine Concentrations
Authors: Altinova Alev E. , Arslan Metin , Sepici-Dincel Aylin , Akturk Mujde , Altan Nilgun , Toruner Fusun B. 
Published: February 2007

Abstract
Context: Asymmetric dimethylarginine (ADMA) has recently emerged as an independent risk marker for cardiovascular disease, but studies investigating the ADMA levels in type 1 diabetes mellitus (DM) are scarce.
Objective: We aimed to evaluate plasma ADMA, l-arginine concentrations, and l-arginine to ADMA ratio in uncomplicated type 1 diabetic patients and controls.
Design and Subjects: Forty patients with type 1 DM who did not have clinical evidence of vascular complications and 35 healthy controls were included in the study.
Results: Plasma ADMA concentrations were higher (2.6 ± 1.9 vs. 1.7 ± 0.7 μmol/liter, P &lt; 0.01), and l-arginine levels were lower (79.3 ± 22.6 vs. 89.6 ± 19.4 μmol/liter, P &lt; 0.05) in the diabetic group, compared with controls. The l-arginine to ADMA ratio was also lower in the diabetic group (38.7 ± 17.1 vs. 62.0 ± 27.9, P &lt; 0.0001). In diabetic patients, logADMA correlated positively with body mass index (BMI) (P = 0.01), fasting blood glucose (P = 0.006), and low-density lipoprotein cholesterol (LDL-c) (P = 0.01) and negatively with high-density lipoprotein cholesterol (P = 0.03). l-Arginine to ADMA ratio correlated negatively with BMI (P = 0.004), fasting blood glucose (P = 0.02), and LDL-c (P = 0.01) and positively with high-density lipoprotein cholesterol (P = 0.04). In controls, logADMA and l-arginine to ADMA ratio correlated with BMI and LDL-c (P &lt; 0.05). In regression analysis, BMI predicted 15% variance of ADMA levels (P = 0.02).
Conclusions: We demonstrated that ADMA increases and l-arginine to ADMA ratio decreases, even before the development of vascular complications in type 1 DM.
Renal impairment compromises the use of total homocysteine and methylmalonic acid but not total vitamin B12 and holotranscobalamin in screening for vitamin B12 deficiency in the aged
Authors: Loikas Saila , Koskinen Pertti , Irjala Kerttu , Löppönen Minna , Isoaho Raimo , Kivelä Sirkka-Liisa , Pelliniemi Tarja-Terttu 
Published: February 2007

AbstractClin Chem Lab Med 2007;45:197–201.
Diagnostic value of calculated testosterone indices in the assessment of polycystic ovary syndrome
Authors: Hahn Susanne , Kuehnel Werner , Tan Susanne , Kramer Karen , Schmidt Markus , Roesler Susanne , Kimmig Rainer , Mann Klaus , Janssen Onno E. 
Published: February 2007

AbstractClin Chem Lab Med 2007;45:202–7.
Novel molecular defect in the platelet ADP receptor P2Y12 of a patient with haemorrhagic diathesis
Authors: Remijn Jasper A. , IJsseldijk Martin J.W. , Strunk Annuska L.M. , Abbes Andre P. , Engel Henk , Dikkeschei Bert , Dompeling Ellen C. , Groot Philip G. de , Slingerland Robbert J. 
Published: February 2007

AbstractClin Chem Lab Med 2007;45:187–9.
Plasma homocysteine cutoff values for venous thrombosis
Authors: Castañon María Mercedes , Lauricella Ana María , Kordich Lucía , Quintana Irene 
Published: February 2007

Abstract: Hyperhomocysteinemia is considered an independent risk factor for vascular occlusive diseases. To date, there is no general agreement on hyperhomocysteinemia cutoff values.: To establish a homocysteine cutoff value, we performed a case-control study in 118 patients suffering from venous thrombosis and in 115 healthy subjects. We calculated odds ratios at different cutoff points and considered hyperhomocysteinemia as homocysteine levels above which the risk of venous thrombosis was increased.: Initially we used the 97.5th percentiles for fasting homocysteine levels in the control group to calculate odds ratios (95% CI) of 9.5 (2.6–35.3), 3.7 (0.8–17.9) and 4.5 (1.7–123.8) for the total population, women and men, respectively. When individuals with well-known thrombotic risk factors were excluded (selected population), odds ratios were 10.5 (2.7– 41.1), 6.5 (1.3–32.1) and 11.2 (1.2–103.1), respectively, confirming hyperhomocysteinemia as an independent risk factor for venous thrombosis. We did not find any association of venous thrombosis with the homozygous methylenetetrahydrofolate reductase C677T mutation. When the hyperhomocysteinemia cutoff was set at other arbitrary points, odds ratios for the selected population were statistically significant only at >12 μmol/L.: Based on our results, we propose 12 μmol/L as the hyperhomocysteinemia cutoff value.Clin Chem Lab Med 2007;45:232–6.
Predicted influence of sample hematocrit on injected mass of internal standard in mass spectrometry assays utilizing simple protein precipitation for sample preparation
Authors: Cushman-Vokoun Allison M. , Plath Kim B. , Landmark James D. , Stickle Douglas F. 
Published: February 2007

AbstractThe injected mass of internal standard is often monitored in mass spectrometry assays to flag aberrant specimen processing. When simple protein precipitation is used for sample preparation, the protein volume (solids fraction) of the specimen is in principle a variable affecting the final concentration of the internal standard in the liquid phase. We examined the predicted extent of this variation for an example of protein precipitation for sample preparation used in a mass spectrometry assay for immunosuppressants in whole blood.Liquid and solid mass fractions of samples with hematocrit ranging from 15% to 60% were measured after protein precipitation of samples using a whole blood/precipitating reagent ratio of 1:4. Relative supernatant volumes as a function of hematocrit were determined.Liquid volume variation was consistent with a predicted variation in the internal standard concentration of only approximately ±1% across this hematocrit range. Data were in close agreement with calculations based simply on protein density and concentration.Hematocrit affects the injected mass of internal standard in assays that utilize protein precipitation for sample preparation, due to predictable variation in solids and liquid fractions. The effect is small, however, compared to the typical variation observed for injected mass of internal standard.Clin Chem Lab Med 2007;45:215–9.
Evaluation of cardiovascular risk factors and related clinical markers in healthy young Japanese adults
Authors: Yagura Chiaki , Takamura Noboru , Kadota Koichiro , Nagazumi Tatsuki , Morishita Yukiko , Nakazato Mio , Maeda Takahiro , Kusano Yosuke , Abe Yasuyo , Aoyagi Kiyoshi 
Published: February 2007

Abstract: Since atherosclerosis is a slowly progressive process at a young age, effective preventive measures should be taken early in life to prevent future events associated with cardiovascular disease.: The study population comprised 132 young Japanese adults (mean age 21.4 years, range 18–31 years). We screened plasma total homocysteine and serum folate levels and evaluated mean carotid intima-media thickness and cardio-ankle vascular index.: Multiple regression analysis after adjustment for age and sex revealed that only folate levels were significantly correlated with plasma total homocysteine levels (β=–0.37, p=0.028). Carotid intima-media thickness adjusted for age and sex and compared between quintiles of total homocysteine levels was significantly increased in the highest quintile compared with other quintiles. Cardio-ankle vascular index increased with age in both women and men, but no additional determinants were identified in young adults.: Serum folate is an independent determinant of plasma total homocysteine levels, and mild hyperhomocysteinemia may represent a risk factor for increased carotid intima-media thickness, even in young adults. Comprehensive health education from the early period of life, including the suggestion of appropriate dietary measures, is important for effective prevention of future atherosclerosis.Clin Chem Lab Med 2007;45:220–5.
The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity
Authors: Salvatore Marco , Falbo Vincenzo , Floridia Giovanna , Censi Federica , Tosto Fabrizio , Bombieri Cristina , Castaldo Giuseppe , Franco Pignatti Pier , Cristina Rosatelli Maria , Taruscio Domenica 
Published: February 2007

Abstract: The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis started in 2001; public laboratories distributed throughout Italy participated on a voluntary basis.: The Italian Public Health Institute (Istituto Superiore di Sanità) sent six validated DNA samples to participating laboratories: technical and clinical information was provided for each sample. Laboratories were required to analyse all six samples. For each sample the laboratories had to provide the results (including raw data) and a report of molecular analysis within 2 months using current methods and nomenclature. Raw data and reports were evaluated by a Steering Committee and their comments were sent to each laboratory.: Genotyping results indicated a general good level of quality for all laboratories, i.e., ∼1% of alleles were incorrectly assigned each year due to analytical (45%) and misinterpretation (45%) errors. During the first 2 years, more than 70% of laboratories did not test for some regional Italian mutations. Commercial kits for reverse dot-blot and oligonucleotide ligation assay PCR were used to detect mutations by 52.8% and 29.5%, respectively, of the participating laboratories. Reporting of results was still inadequate; in 2004 a model for the written report was introduced, but not all laboratories used it.: Our data show that few genotyping errors were made by laboratories and were principally due to misinterpretation and analytical reasons. However, reports are still inadequate and it will be interesting to evaluate the introduction of the reporting model in future years.Clin Chem Lab Med 2007;45:254–60.
Association of vitamin B12, folate and homocysteine with functional and pathological characteristics of the elderly in a mountainous village in Sicily
Authors: Spada Rosario Sebastiano , Stella Giuseppe , Calabrese Santa , Bosco Paolo , Anello Guido , Guéant-Rodriguez Rosa-Maria , Romano Antonino , Benamghar Lahoucine , Fontaine Thierry , Guéant Jean-Louis 
Published: February 2007

AbstractHomocysteine is associated with age, folate and vitamin BSubjects (n=280) were examined after door-to-door recruitment using interview, physician examination and laboratory tests.A total of 19.3% of the population had a low blood level of folate (<7 nmol/L) and 3.2% had low vitamin BThe prevalence of deficits in folate and vitamin BClin Chem Lab Med 2007;45:136–42.
Die „Task Force on Pediatric Laboratory Medicine“ der International Federation of Clinical Chemistry and Laboratory Medicine (IFCC): Laboratoriumsdiagnostik-Management von Patienten von der Geburt bis zur Adoleszenz / The International Federation of Clinical Chemistry and Laboratory Medicine's “Task Force on Pediatric Laboratory Medicine”: improving diagnosis and management of patients from birth to adolescence
Authors: Kohse Klaus P. 
Published: February 2007

Zusammenfassung
Die im Jahre 2006 gegründete „Task Force für Pädiatrische Laboratoriumsmedizin“ der IFCC ist aus der seit 1995 bestehenden „Internationalen Assoziation für Pädiatrische Laboratoriumsmedizin“ (IAPLM) hervorgegangen. Folgende drei Bereiche stellen die Tätigkeitsschwerpunkte dar: Weltweit sollen lokale oder regionale Aktivitäten koordiniert werden, die darauf gerichtet sind, ein Rahmenwerk von Referenzbereichen für die Ergebnisse laboratoriumsdiagnostischer Untersuchungen bei Kindern aller Altersgruppen zu erstellen; eine tragfähige Basis für die langfristige Fortführung der Internationalen Kongresse für Pädiatrische Laboratoriumsmedizin soll geschaffen werden, die in den vergangenen 25 Jahren sehr erfolgreich waren; ein weltweites Netzwerk für die Kommunikation und den Informationsaustausch von Wissenschaftlern soll geknüpft werden, die in Laboratorien tätig sind, in denen Proben von pädiatrischen Patienten bearbeitet werden.
Therapeutisches Drug Monitoring in der Pädiatrie / Therapeutic drug management in pediatric patients
Authors: Vinks Alexander A. , Walson Philip D. 
Published: February 2007

Zusammenfassung
Theoretische Überlegungen und praktische Erfahrungen belegen, dass korrekt bestimmte und richtig interpretierte Bestimmungen von Medikamenten-Konzentrationen im Blut von Patienten (Therapeutisches Drug Monitoring – TDM) die Patientenversorgung bei gleichzeitiger Kostenreduktion verbessern können.
Viele Publikationen belegen die Notwendigkeit einer individuellen Medikamenten-Dosierung bei Kindern und Erwachsenen; wenige, jedoch überzeugende Studien sprechen für die Kosteneffizienz. Verschiedene Patientengruppen profitieren von einer individualisierten Dosierung unter Einsatz des TDM: Frühgeborene, Kritisch kranke Patienten, Epileptiker, Transplantat-Empfänger, HIV-Patienten, Patienten mit Nierenerkrankungen und Mukoviszidose-Patienten. Dennoch wird TDM aus verschiedenen Gründen nicht immer adäquat durchgeführt: Mangel an ausgebildeten Fachkräften, mangelndes Verständnis bei an der Patientenversorgung Beteiligten, Pharma-Firmen oder Laboratorien sowie fehlende Daten zur Kosteneffizienz. Darüber hinaus ist ein effizienter TDM-Service nur interdisziplinär zu bewerkstelligen, was oft auf Schwierigkeiten stößt.
In dieser Übersicht werden derzeitige Strategien zu Zielkonzentrationen von Medikamenten und aktuelle Vorgehensweisen bei TDM, unter Verwendung aller erhältlichen Daten für verschiedene Medikamentenklassen wie Antibiotika, Antikonvulsiva, Immunsuppressiva und antiretrovirale Wirkstoffe, diskutiert. Ein korrekt angewendetes TDM besitzt insbesondere bei pädiatrischen Patienten einen hohen Nutzen. Damit das volle Potenzial ausgeschöpft wird, müssen jedoch viele Defizite im Wissensstand und in der Anwendung des TDM beseitigt werden. Ein einfaches „reaktionäres“ TDM kann nutzlos, ja sogar gefährlich sein. Moderne Verfahren unter Verwendung adaptiver Techniken, die auf einer Bayesschen adaptiven Technologie beruhen, sind dagegen in der Lage, richtige Vorhersagen und damit die Kontrolle über das Verhalten von Medikamenten im individuellen Patienten zu liefern. Dadurch wird eine bessere und kosteneffizientere Patientenversorgung erreicht. Darüber hinaus verspricht die Kombination von analytischen Techniken, pharmakokinetischen und pharmakodynamischen Modellen sowie genetischen Methoden eine wirkliche Optimierung der individuellen Therapie, beginnend mit der initialen Gabe des Medikamentes und darüber hinaus.
Synchronization of Electrically Coupled Pairs of Inhibitory Interneurons in Neocortex
Authors: Mancilla Jaime G. , Lewis Timothy J. , Pinto David J. , Rinzel John , Connors Barry W. 
Published: February 2007

We performed a systematic analysis of phase locking in pairs of electrically coupled neocortical fast-spiking (FS) and low-threshold-spiking (LTS) interneurons and in a conductance-based model of a pair of FS cells. Phase–response curves (PRCs) were obtained for real interneurons and the model cells. We used PRCs and the theory of weakly coupled oscillators to make predictions about phase-locking characteristics of cell pairs. Phase locking and the robustness of phase-locked states to differences in intrinsic frequencies of cells were directly examined by driving interneuron pairs through a wide range of firing frequencies.Calculations using PRCs accurately predicted that electrical coupling robustly synchronized the firing of interneurons over all frequencies studied (FS, ∼25–80 Hz; LTS, ∼10–30 Hz). The synchronizing ability of electrical coupling and the robustness of the phase-locked states were directly dependent on the strength of coupling but not on firing frequency. The FS cell model also predicted the existence of stable antiphase firing at frequencies below ∼30 Hz, but no evidence for stable antiphase firing was found using the experimentally determined PRCs or in direct measures of phase locking in pairs of interneurons.Despite significant differences in biophysical properties of FS and LTS cells, their phase-locking behavior was remarkably similar. The wide spikes and shallow action potential afterhyperpolarizations of interneurons, compared with the model, prohibited antiphase behavior. Electrical coupling between cortical interneurons of the same type maintained robust synchronous firing of cell pairs for up to ∼10% heterogeneity in their intrinsic frequencies.
Bringing features of human dialogue to web surveys
Authors: Conrad Frederick G. , Schober Michael F. , Coiner Tania 
Published: February 2007

AbstractWhen web survey respondents self‐administer a questionnaire, what they are doing is in many ways similar to what goes on in human–human interviews. The studies presented here demonstrate that enabling web survey respondents to engage in the equivalent of clarification dialogue can improve respondents' comprehension of questions and thus the accuracy of their answers, much as it can in human–human interviews. In two laboratory experiments, web survey respondents (1) answered more accurately when they could obtain clarification, that is, ground their understanding of survey questions, than when no clarification was available, and (2) answered particularly accurately with mixed‐initiative clarification, where respondents could initiate clarification or the system could provide unsolicited clarification when respondents took too long to answer. Diagnosing the need for clarification based on respondent characteristics—in particular, age—proved more effective than relying on a generic model of all respondents' need for clarification. Although clarification dialogue increased response times, respondents preferred being able to request clarification than not. The current results suggest that bringing features of human dialogue to web surveys can exploit the advantages of both interviewer‐ and self‐administration of questionnaires. Copyright © 2007 John Wiley & Sons, Ltd.
What is sexual harassment? It depends on who asks! Framing effects on survey responses
Authors: Galesic Mirta , Tourangeau Roger 
Published: February 2007

AbstractWe examine the impact of the framing of the survey request––the description of the survey's sponsor and topic––on respondents' answers and describe three mechanisms that may underline such effects. Respondents can try to be relevant and cooperative and provide answers they see as the most useful; they can use the sponsorship and other elements of the survey presentation to help them understand ambiguous questions; and they may find it easier to recall instances of events related to the survey presentation. In a study that framed the survey in two different ways––one sponsored by a feminist organisation fighting against sexual harassment and the other sponsored by a neutral research institute––we found significant differences in the ways people understood and answered questions about sexual harassment. We show that all of the three mechanisms we distinguish might have affected the results. Copyright © 2007 John Wiley & Sons, Ltd.
Applying a timeline as a recall aid in a telephone survey: a record check study
Authors: van der Vaart Wander , Glasner Tina 
Published: February 2007

AbstractThis study examines the effects of a timeline tool that was employed as a visual recall aid for respondents in a standardised telephone survey. The timeline was tested in a split‐ballot field experiment on the purchase behaviour of clients of opticians, the recall period being approximately 7 years. Optician database information was used as gold standard for recall accuracy. Respondents' retrospective reports about purchases of pairs of glasses were compared to the records regarding the price and the date of the most recent purchase and the number of purchases. In most cases, the timeline enhanced recall accuracy. Furthermore, it appeared to be especially helpful when the respondent's recall task was relatively difficult. The advantages and limitations of employing the timeline are discussed in relationship to the supposed underlying cognitive mechanisms. Copyright © 2007 John Wiley & Sons, Ltd.
Stainable iron in aspirated and needle‐biopsy specimens of marrow: A source of error
Authors: Fong T. P. , Okafor L. A. , Thomas W. , Westerman M. P. 
Published: February 2007

AbstractMarrow iron was assessed in needle biopsy sections and in simultaneously obtained aspirated smears and aspirated clot sections from 251 patients. Significantly different amounts of stainable iron were observed in needle biopsy sections and aspirated smears in 15% of the specimens. The usual difference consisted of significantly less stainable iron in needle biopsy sections as compared to the aspirated smears (13%). Of clinical importance was the finding of absent stainable iron in 8% of the needle biopsy sections, in contrast to the definite deposits observed in the corresponding aspirated smear. Of similar interest was the observation that 6% of the needle biospy sections had significantly less stainable iron than corresponding hemosiderotic smears. The amounts of stainable iron in needle biopsy sections were similar to the amounts observed in the corresponding aspirated clot sections. Evaluation of marrow iron using needle biopsy sections as well as aspirated clot sections differs from results observed in aspirated smears and could be a source of significant error in the assessment of iron stores.