bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA
Authors: Vives‐Bauza C. , Del Toro M. , Solano A. , Montoya J. , Andreu A. L. , Roig M. 
Published: September 2003

AbstractThe 5703G>A mutation in the tRNA gene of mitochondrial DNA seems to show a tissue‐specific phenotype: early age of clinical presentation, progressive external ophthalmoplegia, fatigability and ‘extremely thin appearance’. We report a second patient with the same mutation and phenotype.
Free use of fruits and vegetables in phenylketonuria
Authors: Mac Donald A. , Rylance G. , Davies P. , Asplin D. , Hall S. K. , Booth I. W. 
Published: September 2003

AbstractThis study aimed to evaluate systematically the effect of the free use of fruits and vegetables containing an intermediate amount of phenylalanine (51–100 mg/100 g) on the biochemical control in children with phenylketonuria (PKU). Fifteen subjects with PKU, with a median age of 6 years (range 1–24 years) were studied. In a three‐part prospective 15‐week study, subjects sequentially ate fruits and vegetables containing phenylalanine 0–50 mg/100 g for weeks 1 to 3; 51–75 mg/100 g for weeks 4 to 8; and 76–100 mg/100 g for weeks 9 to 15. Plasma phenylalanine concentrations were measured twice daily for three consecutive days in weeks 1, 3, 6, 8, 11, 13 and 15. A standard menu was followed on the blood sampling days. Daily dietary records of fruits and vegetables under study were kept throughout the trial. Control of phenylalanine concentrations was not adversely affected by the free use of fruits and vegetables containing 51–100 mg/100 g. Pre‐breakfast median plasma concentrations were: weeks 1 to 3, 260 μmol/L (range 90–890); weeks 4 to 8, 255 μmol/L (range 130–920); and weeks 9 to 15, 278 μmol/L (range 30–880). Pre‐evening meal median plasma phenylalanine concentrations were: weeks 1 to 3, 240 μmol/L (range 30–820); weeks 4 to 8, 210 μmol/L (40–880); and weeks 9 to 15, 238 μmol/L (range 20–880). These data suggest that free use of fruits and vegetables containing 51–75 mg/100 g poses no problem for children with PKU.
High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease
Authors: Oey N. A. , Den Boer M. E. J. , Ruiter J. P. N. , Wanders R. J. A. , Duran M. , Waterham H. R. , Boer K. , van der Post J. A. M. , Wijburg F. A. 
Published: September 2003

AbstractAs the human fetus and placenta are considered to be primarily dependent on glucose oxidation for energy metabolism, the cause of the remarkable association between severe maternal pregnancy complications and the carriage of a fetus with an inborn error of mitochondrial long‐chain fatty acid oxidation (FAO) has remained obscure. We analysed human term placenta and chorionic villus samples for the activities of a variety of enzymes involved in FAO, and compared the results with those obtained in human liver. All enzymes were found to be expressed, with a very high activity of two enzymes involved in the metabolism of long‐chain fatty acids (CPT2 and VLCAD), whereas the activity of medium‐chain acyl‐CoA dehydrogenase (MCAD) was found to be low, when compared to liver. These results suggest that fatty acid oxidation may play an important role in energy generation in human placenta, and that a deficiency in the placental oxidation of long‐chain FAO may result in placental dysfunction, thus causing gestational complications.
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N‐acetyl‐α‐D‐glucosaminidase deficiency in Schipperke dogs
Authors: Ellinwood N. M. , Wang P. , Skeen T. , Sharp N. J. H. , Cesta M. , Decker S. , Edwards N. J. , Bublot I. , Thompson J. N. , Bush W. , Hardam E. , Haskins M. E. , Giger U. 
Published: September 2003

AbstractMucopolysaccharidosis III (MPS III) is characterized by lysosomal accumulation of the glycosaminoglycan (GAG) heparan sulphate (HS). In humans, the disease manifests in early childhood, and is characterized by a progressive central neuropathy leading to death in the second decade. This disease has also been described in mice (MPS IIIA and IIIB), dogs (MPS IIIA), emus (MPS IIIB) and goats (MPS IIID). We now report on dogs with naturally occurring MPS IIIB, detailing the clinical signs, diagnosis, histopathology, tissue enzymology and substrate levels. Two 3‐year‐old Schipperke dogs were evaluated for tremors and episodes of stumbling. Examination of the animals found signs consistent with cerebellar disease including dysmetria, hind limb ataxia and a wide‐based stance with truncal swaying. There were mildly dystrophic corneas and small peripheral foci of retinal degeneration. Magnetic resonance imaging of the brain and skeletal radiographs were normal. Intracytoplasmic granules were found in the white cells of peripheral blood and cerebral spinal fluid, and in myeloid lineages in bone marrow. Electrophoresis of urinary GAGs indicated the presence of HS, while assays of cultured fibroblasts found N‐acetyl‐α‐D‐glucosaminidase (Naglu) activity of between 4.3% and 9.2% of normal. Owing to neurological deterioration, both dogs were euthanized, and post‐mortem examinations were performed. Biochemical studies of liver and kidney from both animals demonstrated profound deficiency of Naglu activity and abnormally high GAG levels. Pathology of the brain included severe cerebellar atrophy, Purkinje cell loss, and cytoplasmic vacuolation in neurons and perithelial cells throughout the central nervous system. Pedigree analyses and Naglu levels of family members supported an autosomal recessive mode of inheritance. Using an obligate heterozygote, a breeding colony has been established to aid in understanding the pathogenesis of MPS IIIB and testing of potential therapies.
Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia
Authors: Hargreaves I. P. , Heales S. J. R. , Briddon A. , Lee P. J. , Hanna M. G. , Land J. M. 
Published: September 2003

AbstractA case of pyruvate dehydrogenase E3 binding protein deficiency is reported in a 24‐year‐old male with encephalomyopathy. Blood lactate was only minimally elevated, as was alanine.
Risk factors for Pneumocystis carinii pneumonia in kidney transplant recipients: a case–control study
Authors: Radisic M. , Lattes R. , Chapman J.F. , Del Carmen Rial M. , Guardia O. , Seu F. , Gutierrez P. , Goldberg J. , Casadei D.H. 
Published: September 2003

Abstract:Objective. To analyze risk factors for Pneumocystis carinii pneumonia (PCP) in kidney transplant recipients.Study design. In a case–control study, 17 PCP cases diagnosed between July 1994 and July 2000 were matched with two controls each (previous and subsequent kidney transplant recipients who did not develop PCP during the same follow‐up period). Demographics, organ origin, human leukocyte antigen (HLA) mismatches, use of poly‐ or monoclonal anti‐CD3 antibodies (Po/MoAb) for induction or rejection treatment, rejection episodes, cumulative steroid dose for rejection treatment, immunosuppressive regimens, and other infections were analyzed.Results. No significant differences were seen in gender (male 10 vs. 15), mean age (39.7 vs. 35.4 years), organ origin (cadaver donor 13 vs. 19), HLA mismatches, or Po/MoAb use in induction treatment. Significant differences were observed in PCP cases for rejection history (P=0.02), and median and total number of rejection episodes (P=0.0018). The relative risks for PCP for 1, 2, and ≥3 rejection treatments vs. no such treatment were 1, 1.05, and 6.30, respectively (P=0.021). The relative risk for PCP for steroid‐resistant rejection was 4.34 (95% confidence interval [CI], 1.04–18.89) (P=0.019), and that for the use of Po/MoAb for rejection treatment was 7.23 (95% CI, 1.28–49.34) (P=0.006). The relative risk for PCP for 0, 1, and ≥2 previous or concomitant cytomegalovirus (CMV) infection vs. no such infections were 1.0, 2.32, and 13.0, respectively (P=0.012). The relative risks for PCP for tuberculosis (TB) was 18 (95% CI, 1.76–852.03), that for bacterial pneumonia was 14.22 (95% CI, 2.16–150.23), and that for hepatitis C virus infection was 5.25 (95% CI, 1.03–28.91). Immunosuppressive regimens with tacrolimus, mycophenolate mofetil (MMF), steroids (P=0.06), and MMF as a single variable (P=0.05) were more frequently used in cases. Primary trimethoprim‐sulfamethoxazole prophylaxis failure was observed in 12 patients in association with heavy immunosuppression and concomitant infections.Conclusions. The risk of PCP in kidney transplant recipients is related to the number and type of rejection treatments. It is also related to the occurrence of CMV infection, and to other immunomodulating infections such as TB and hepatitis C, and might also be increased with the use of newer and more potent immunosuppressive agents. Primary prophylaxis failure may occur in association with some of these risk factors.
Thrombotic microangiopathy and cytomegalovirus in liver transplant recipients: a case‐based review
Authors: Ramasubbu K. , Mullick T. , Koo A. , Hussein M. , Henderson J.M. , Mullen K.D. , Avery R.K. 
Published: September 2003

Abstract:Background. Thrombotic microangiopathy (TMA) is a rare but potentially lethal complication encountered in solid organ and bone marrow transplant recipients, requiring rapid recognition, diagnosis, and initiation of therapy. Several potential causes have been identified in this setting, including viral infections and medications.Methods. We report a case of TMA in a liver transplant recipient with active cytomegalovirus (CMV) gastritis. A 41‐year‐old female presented 3 months after liver transplantation with a 5‐week history of nausea, vomiting, anorexia, and diarrhea. CMV serology was donor seropositive and recipient seronegative (D+/R−). The immunosuppressive regimen consisted of tacrolimus, mycophenolate mofetil, and prednisone. Evaluation revealed CMV viremia with a high viral load and intravenous ganciclovir was started. A decline in hemoglobin and platelets with an increase in lactate dehydrogenase (LDH) warranted hematologic evaluation, which revealed findings consistent with microangiopathic hemolytic anemia. Ganciclovir and tacrolimus were discontinued. Intravenous immunoglobulin was administered and daily plasmapheresis was initiated. As the patient's blood counts and LDH started to improve, ganciclovir was cautiously reinstituted. The patient's gastrointestinal symptoms gradually resolved and her blood counts continued to improve with prolonged plasmapheresis (a total of 23 plasmapheresis sessions). Tacrolimus and possibly CMV infection were suspected to be the cause for her TMA, and cyclosporine was substituted.Conclusions. TMA is an important entity in the differential diagnosis of acute hemolytic anemia in liver transplant recipients. Many cases seem to be medication‐induced. However, in treatment‐resistant or relapsing cases, a possibility of concomitant CMV infection should be considered.
Ästhetisches Bild und Christliche Mystik im Cántico espiritual des San Juans de la Cruz
Authors: Kluge Sofie 
Published: September 2003

In diesem Zusammenhang werde ich, von dem Cántico espiritual des San Juans de la Cruz (1577) ausgehend und zentrale rezeptionsgeschichtliche Probleme einbeziehend, den mystischen Bildbegriff untersuchen. Auf der einen Seite bildet San Juans selbstständige Interpretation des biblischen Hohenliedes mit ihrem farbigen Bilderreichtum einen ausgezeichneten Ausgangspunkt für die Diskussion des komplizierten Verhältnisses zwischen dem Profanen und dem Heiligen, das sich in dem grundlegenden Schisma der San Juan‐Rezeption spiegelt; auf der anderen Seite ist das Problem der Funktion des ästhetischen Bildes im Fall Cántico besonders aktuell, weil San Juan sich bewußt in eine lange christliche Tradition, Hohelied‐Auslegung mit bildtheoretischer Diskussion zu verbinden, einschreibt.Eine Untersuchung der Anatomie und Funktion des ästhetischen Bildes in der mystichen Dichtung des San Juans de la Cruz macht somit den übergeordneten Rahmen meiner Interpretation und Diskussion des Cántico espiritual mit dazugehörigen Prosakommentaren aus. Weil der Cántico espiritual als mysticher Text behauptet, er beschreibe eine paranormale Erfahrung (die unio mystica als intenses Gotteserlebnis), ist es relevant, die literarische Repräsentation genauer zu untersuchen und u.a. einzuschätzen, ob man die mystische Liebesdichtung des San Juans notwendigerweise im Rahmen einer Symbolästhetik verstehen muß, so wie die Majorität der profanen Interpreten behauptet. Der mystiche Text treibt irgendwie die Frage der Repräsentation auf die Spitze, und fordert eine Reflexion der Bild‐ oder Repräsentations problematik, die meiner Meinung nach ganz zentral für das Verständnis des komplizierten Verhältnisses zwischen dem Profanen und dem Heiligen als thematisches Problem und der Emblem‐artigen Dualität von Bild und Schrift als formales Problem ist.
Histochemical properties of skeletal muscles in Japanese cattle and their meat production ability
Authors: GOTOH Takafumi 
Published: September 2003

ABSTRACTThe compositional characteristics of the three basic types of myofiber, namely type I (slow‐twitch oxidative), type IIA (fast‐twitch oxidative glycolytic) and type IIB (fast‐twitch glycolytic), are clarified in the skeletal muscles of Japanese Black cattle. The myofiber composition, which is characteristic of the muscles of Japanese Black cattle, markedly changes during their growth, when some type IIA myofibers are transformed into type I or IIB, depending on the different muscles. Independent of these changes with growth, inter‐ and intramuscular variations of myofiber type distribution is evident. The small extensor muscles in deep regions around bone contain a lot of type I myofibers, whereas the large muscles at surface regions have many type II myofibers. Japanese Black cattle have typical white muscles such as the Longissimus thoracis and Semitendinosus, containing half the myofibers as red (type I + IIA). The muscles of Japanese Black cattle show a tendency to contain a higher percentage of type I myofibers than other breeds over an intrabreed variation of the myofiber type composition. In the big muscles such as the Longissimus thoracis and Biceps femoris, a great diversity of myofiber type composition is observed among the different regions. When fattened, heifers produce Longissimus thoracis and Biceps femoris muscles of smaller weight than steers, but in heifers the myofiber size in each type is rather larger. In the Psoas major, Vastus lateralis and Serratus ventralis muscles, heifers contain a higher frequency of red (type I + IIA) myofibers with no differences in myofiber size. Among the several muscles of fattened Japanese Black steers, the percentage distribution of type I myofibers has a positive correlation with the percentage amount of intramuscular fat. From these results, the high potential of Japanese Black cattle to produce marbled beef could be based on the histochemical properties of myofibers in their skeletal muscles.
Direct enzyme immunoassay of progesterone in bovine plasma
Authors: ISOBE Naoki , NAKAO Toshihiko 
Published: September 2003

ABSTRACTThe present study was undertaken to develop a novel, practical and simple procedure for enzyme immunoassay (EIA) of plasma progesterone in cows. Diluted plasma was heated for 70°C for 30 min and applied directly to wells of a microtitre plate without extraction. Then plasma was incubated with antiprogesterone antibody and horseradish peroxidase‐labeled progesterone. The sensitivity of the assay was estimated as 4.4 pg/mL (0.11 pg/well). The intra‐assay and interassay coefficients of variation were 5.7–19.1% and 6.6–19.3%, respectively. When 0.3, 1 and 3 ng of progesterone were added to plasma, the recovery rates ranged between 79.9 and 108.4%. Only 4 h were needed to complete an assay to measure progesterone concentration. To apply the present direct EIA, progesterone concentration in plasma was assayed in crossbred cows used for the embryo transfer program. During insertion of controlled‐internal drug release (CIDR), progesterone concentrations were kept at a high level, although the removal of CIDR with treatment of dinoprost trometamine reduced progesterone concentration drastically. These results suggest that the present direct EIA is a practical and suitable method for measuring the plasma concentration of progesterone.
Differential characteristics of microfold cells on the dome epithelium of porcine ileum
Authors: KIDO Taketomo , OHWADA Shyuichi , WATANABE Kouichi , ASO Hisashi , YAMAGUCHI Takahiro 
Published: September 2003

ABSTRACTThe monospecific antibody directed against cytokeratin 18 consistently immunostained microfold cells (M‐cells) in the ileum epithelium of pigs. In adult pigs, M‐cells were numerously distributed in the dome epithelium overlying Peyer's patches, especially in the crypt epithelium to the lower dome epithelium. The M‐cells presented in the crypt epithelium were mostly columnar in shape and showed a gradual transition from columnar cells to pocket‐like cells as they drew near the lower dome epithelium. In contrast, the M‐cells that were sporadically located in the villus epithelium were all columnar and similar to enterocytes in shape. In newborn pigs, a few M‐cells were observed only in the infant dome epithelium, which were all columnar resembling the enterocytes. Of the 19 lectins used, the dome epithelial cells were selectively stained by lectins from Ulex europaeus‐I and Anguuilla anguilla. Especially, the M‐cells were stained by lectin from Anguuilla anguilla although the intensity varied on individual pigs. Lymphoid follicles in the lamina propria were well developed in the adults compared to these in the newborns, and lymphoid cells were more populated in the lower part than the upper part of the dome. The present results provide available information to understand the differentiation and functional heterogeneity of porcine M‐cells.
Nucleotide sequence of myostatin gene and its developmental expression in skeletal muscles of Japanese Black cattle
Authors: SHIBATA Masahiro , OHSHIMA Kazunaga , KOJIMA Takatoshi , MURAMOTO Takayuki , MATSUMOTO Kazunori , KOMATSU Masanori , AIKAWA Katsuhiro , FUJIMURA Shinobu , KADOWAKI Motoni 
Published: September 2003

ABSTRACTMyostatin, a member of the transforming growth factor‐β superfamily, is a well known negative regulator of skeletal muscle growth. In the present study, the 6660 bp nucleotide sequence of the myostatin gene in Japanese Black cattle (JBC), including the entire coding region of 1128 bp, was determined. The amino acid sequence deduced from the nucleotide sequence of JBC was well conserved with its sequence of other cattle, although it was found that an Α→G transition at nucleotide position 641 results in the substitution of asparagine by serine at amino acid position 214. In order to examine the expression pattern of the myostatin gene in the skeletal muscles of JBC, its expression in three skeletal muscles, Semitendinosus (ST) muscle, Biceps femoris muscle and Longissimus lumborum muscle, of fetal and calf stages was analyzed by real time polymerase chain reaction. The highest level of the myostatin expression was observed in the fetal stage. In calf stages the highest expression was observed in ST muscle compared with the other two muscles. These results suggest that a higher expression of myostatin gene, especially in the fetal stage and in ST muscle during calf stages, is involved in the arrest in skeletal muscle growth and that its functional domains and genomic structure in JBC are well conserved with those in other mammals.
Longitudinal patterns of invertebrates in the hyporheic zone of a glacial river
Authors: Malard F. , Galassi D. , Lafont M. , Dolédec Sylvain , Ward J.V. 
Published: September 2003

Summary1. Longitudinal changes in physicochemical factors and the composition of the invertebrate community were examined in the hyporheic zone of a glacial river (Val Roseg, Switzerland) over a distance of 11 km from the glacier terminus. Multivariate analysis was used to determine the habitat preferences of taxa along an upstream‐downstream gradient of increasing temperature and groundwater contribution to river flow.2. The hyporheos conformed to the longitudinal distribution model described for zoobenthic communities of glacial rivers in that taxonomic richness increased with distance from the glacier terminus. Spatial variation in taxonomic richness was best explained by temperature, the influence of groundwater, and the amount of organic matter. The overriding importance of these variables on the distribution of taxa was confirmed by the multivariate analysis.3. The hyporheic zone contributed significantly to the overall biodiversity of the Roseg River. Whereas insect larvae were predominant in the benthos, hyporheic invertebrates were dominated by taxa belonging to the true groundwater fauna and the permanent hyporheos. Several permanently aquatic taxa (e.g. Nematoda, Ostracoda, Cyclopoida, Harpacticoida, Oligochaeta) appeared exclusively in the hyporheic zone or they extended farther upstream in the hyporheic layer than in the benthic layer. Leuctridae, Nemouridae, and Heptageniidae colonised hyporheic sediments where maximum water temperature was only 4 °C.4. Despite strong seasonal changes in river discharge and physicochemistry in hyporheic water, the density and distribution of the hyporheos varied little over time.5. Taxonomic richness increased markedly in the downstream part of a floodplain reach with an extensive upwelling zone. Upwelling groundwater not only maintained a permanent flow of water but also created several species‐rich habitats that added many species to the community of the main channel.
Effects of episodic acidification on macroinvertebrate assemblages in Swiss Alpine streams
Authors: Lepori F. , Barbieri A. , Ormerod S. J. 
Published: September 2003

Summary1. Despite long‐standing ecotoxicological evidence that episodes of acidification in streams are important biologically, there is still uncertainty about their effects on invertebrate communities. We surveyed 20 streams in an acid sensitive Alpine area (Canton Ticino, Switzerland), where episodes are driven by snowmelt in spring and by rainstorms at other times of the year. Samples of water and macroinvertebrates were collected in pre‐event conditions (winter and summer) and during periods of high flow (spring and autumn).2. Using pH, [Ca2+] and [Aln+], streams were clustered into six acid–base groups that were either well buffered (groups 4–6), soft‐water with stable pH (group 3), or poorly buffered with low pH at high flow (groups 1 and 2).3. Severe episodes occurred during snowmelt, when the group 1 streams became acidic with pH down to 5.0 and [Aln+] up to 140 μg L−1. pH declined to 6.2 in streams of group 2, but remained > 6.6 in groups 3–6.4. Detrended canonical correspondence analysis showed that the streams sensitive to episodes (groups 1 and 2) had different invertebrate assemblages from well‐buffered sites (groups 4 and 5) or soft‐water stable streams (group 3), with faunal differences largest following spring snowmelt. Empididae,Isoperla rivulorum,Rhithrogenaspp. andBaetisspp. were scarce in streams sensitive to episodes (groups 1 and 2). By contrast,Amphinemura sulcicolliswas scarcer in hard‐water streams (groups 4–6). Taxonomic richness was lower in the episodic streams of group 1 than in other streams.5. Together, these results indicate clear biological differences between acid‐sensitive streams with similar low‐flow chemistry but contrasting episode chemistry. Severe episodes of acidification appear to affect macroinvertebrate assemblages in streams in the southern Swiss Alps.