bluuebunny/crossref_metadata_2025_split huggingface dataset:
Saccadic lateropulsion and upbeat nystagmus: Disorders of caudal medulla
Authors: Tilikete Caroline , Hermier Marc , Pelisson Denis , Vighetto Alain 
Published: October 2002

AbstractA patient developed a primary position upbeat nystagmus and a left saccadic lateropulsion. Magnetic resonance imaging demonstrated a probable cavernoma at right caudal paramedian medullary level. Anatomical correlations are discussed. Saccadic lateropulsion is attributed to olivocerebellar pathway impairment but usually is described in more rostral medullar lesions. Our case would still support this hypothesis because the lesion could have involved the olivocerebellar pathway at its very caudal level. Upbeat nystagmus could be attributed to impairment of the nucleus intercalatus and/or cell groups of the paramedian tract.
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3‐p15.1
Authors: Vuillaume Isabelle , Devos David , Schraen‐Maschke Susanna , Dina Christian , Lemainque Arnaud , Vasseur Francis , Bocquillon Guy , Devos Patrick , Kocinski Carole , Marzys Christiane , Destée Alain , Sablonnière Bernard 
Published: October 2002

AbstractWe investigated a French family with a new type of autosomal dominant spinocerebellar ataxia that was excluded from all previously identified genes and loci. The patients exhibited a slowly progressive gait and limb ataxia variably associated with akinesia, rigidity, tremor, and hyporeflexia. A mild cognitive impairment also was observed in some cases. We performed a genomewide search and found significant evidence for linkage to chromosome 7p21.3‐p15.1. Analysis of key recombinants and haplotype reconstruction traced this novel spinocerebellar ataxia locus to a 24cM interval flanked by D7S2464 and D7S516.
Motor cortex activation is preserved in patients with chronic hemiplegic stroke
Authors: Cramer Steven C. , Mark Angela , Barquist Kristin , Nhan Hoang , Stegbauer Keith C. , Price Robert , Bell Kathleen , Odderson Ib R. , Esselman Peter , Maravilla Kenneth R. 
Published: October 2002

AbstractMany central nervous system conditions that cause weakness, including many strokes, injure corticospinal tract but leave motor cortex intact. Little is known about the functional properties of surviving cortical regions in this setting, in part because many studies have used probes reliant on the corticospinal tract. We hypothesized that many features of motor cortex function would be preserved when assessed independent of the stroke‐affected corticospinal tract. Functional MRI was used to study 11 patients with chronic hemiplegia after unilateral stroke that spared regions of motor cortex. Activation in stroke‐affected hemisphere was evaluated using 3 probes independent of affected corticospinal tract: passive finger movement, a hand‐related visuomotor stimulus, and tapping by the nonstroke index finger. The site and magnitude of cortical activation were similar when comparing the stroke hemisphere to findings in 19 control subjects. Patients activated each of 8 cortical regions with similar frequency as compared to controls, generally with a smaller activation volume. In some cases, clinical measures correlated with the size or the site of stroke hemisphere activation. The results suggest that, despite stroke producing contralateral hemiplegia, surviving regions of motor cortex actively participate in the same proprioceptive, visuomotor, and bilateral movement control processes seen in control subjects.
Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy
Authors: Guy John , Qi Xiaoping , Pallotti Francesco , Schon Eric A. , Manfredi Giovanni , Carelli Valerio , Martinuzzi Andrea , Hauswirth William W. , Lewin Alfred S. 
Published: October 2002

AbstractA G to A transition at nucleotide 11778 in the ND4 subunit gene of complex I was the first point mutation in the mitochondrial genome linked to a human disease. It causes Leber Hereditary Optic Neuropathy, a disorder with oxidative phosphorylation deficiency. To overcome this defect, we made a synthetic ND4 subunit compatible with the “universal” genetic code and imported it into mitochondria by adding a mitochondrial targeting sequence. For detection we added a FLAG tag. This gene was inserted in an adeno‐associated viral vector. The ND4FLAG protein was imported into the mitochondria of cybrids harboring the G11778A mutation, where it increased their survival rate threefold, under restrictive conditions that forced the cells to rely predominantly on oxidative phosphorylation to produce ATP. Since assays of complex I activity were normal in G11778A cybrids we focused on changes in ATP synthesis using complex I substrates. The G11778A cybrids showed a 60% reduction in the rate of ATP synthesis. Relative to mock‐transfected G11778A cybrids, complemented G11778A cybrids showed a threefold increase in ATP synthesis, to a level indistinguishable from that in cybrids containing normal mitochondrial DNA. Restoration of respiration by allotopic expression opens the door for gene therapy of Leber Hereditary Optic Neuropathy.
Mitochondrial respiratory chain function in skeletal muscle of ALS patients
Authors: Echaniz‐Laguna Andoni , Zoll Joffrey , Ribera Florence , Tranchant Christine , Warter Jean‐Marie , Lonsdorfer Jean , Lampert Eliane 
Published: October 2002

AbstractEvidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of muscle mitochondria in patients with early‐stage SALS and sedentary (SED) controls using the skinned fiber technique to determine whether respiration of muscle tissue is altered in early‐stage SALS in comparison with SED. Musculus vastus lateralis biopsies were obtained from 7 SED group members and 14 patients with early‐stage SALS (mean disease duration, 9 months). Muscle fibers were permeabilized with saponine and then skinned and placed in an oxygraphic chamber to measure basal (V0) and maximal (Vmax) adenosine diphosphate–stimulated respiration rates and to assess mitochondrial regulation by adenosine diphosphate. Muscle oxidative capacity, evaluated with Vmax, was identical in patients in the SALS and SED groups (V0: SALS, 1.1 ± 0.1; SED, 0.8 ± 0.1, μmol 02 · min−1 · gm−1dw and Vmax: SALS, 3.1 ± 0.3; SED, 2.5 ± 0.3, μmol 02 · min−1 · gm−1dw). This study shows an absence of large mitochondrial damage in skeletal muscle of patients with early‐stage SALS, suggesting that mitochondrial dysfunction in the earlier stages of SALS is almost certainly not systemic.
ε‐sarcoglycan mutations found in combination with other dystonia gene mutations
Authors: Klein Christine , Liu Liu , Doheny Dana , Kock Norman , Müller Birgitt , De Carvalho Aguiar Patricia , Leung Joanne , De Leon Deborah , Bressman Susan B. , Silverman Jeremy , Smith Christopher , Danisi Fabio , Morrison Chris , Walker Ruth H. , Velickovic Miodrag , Schwinger Eberhard , Kramer Patricia L. , Breakefield Xandra O. , Brin Mitchell F. , Ozelius Laurie J. 
Published: October 2002

AbstractMyoclonus‐dystonia is a movement disorder associated with mutations in the ε‐sarcoglycan gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus‐dystonia remain to be determined.
Dyskinesia after fetal cell transplantation for parkinsonism: A PET study
Authors: Ma Yilong , Feigin Andrew , Dhawan Vijay , Fukuda Masafumi , Shi Qiuhu , Greene Paul , Breeze Robert , Fahn Stanley , Freed Curt , Eidelberg David 
Published: October 2002

AbstractPersistent dyskinesias in the absence of or with only minimal amounts of dopaminergic medication have been reported after dopamine cell implantation for Parkinson's disease. In this study, we used [18F]fluorodopa (FDOPA) and positron emission tomography to determine whether this complication resulted from specific alterations in dopamine function after transplantation. Caudate and putamen FDOPA uptake values in these patients (DYS+, n = 5) were compared with those obtained in a cohort of age‐ and disease duration‐matched transplant recipients who did not develop this complication (DYS−, n = 12). PET signal for both groups was compared at baseline and at 12 and 24 months after transplantation. We found that putamen FDOPA uptake was significantly increased (p < 0.005) in DYS+ transplant recipients. These increases were predominantly localized to two zones within the left putamen. In addition to the posterodorsal zone in which a prominent reduction in FDOPA uptake was present at baseline, the DYS+ group also displayed a relative increase ventrally, in which preoperative dopaminergic input was relatively preserved. Postoperative FDOPA uptake did not reach supranormal values over the 24‐month follow‐up period. These findings suggest that unbalanced increases in dopaminergic function can complicate the outcome of neuronal transplantation for parkinsonism.
“True” sporadic ALS associated with a novel SOD‐1 mutation
Authors: Alexander Michael D. , Traynor Bryan J. , Miller Nicole , Corr Bernie , Frost Eithne , McQuaid Shirley , Brett Francesca M. , Green Andrew , Hardiman Orla 
Published: October 2002

AbstractMutations in the Cu/Zn superoxide dismutase gene (SOD‐1) are reported in 20% of familial amyotrophic lateral sclerosis (ALS) cases, but no definite report of a mutation in a “truly” sporadic case of ALS has been proved. We present the first case of a novel SOD‐1 mutation in a patient with genetically proven sporadic ALS. This mutation (H80A) is believed to alter zinc ligand binding, and its functional significance correlates well with the aggressive clinical course and postmortem findings observed in this patient.
Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation
Authors: Maier Esther M. , Kammerer Stefan , Muntau Ania C. , Wichers Maria , Braun Andreas , Roscher Adelbert A. 
Published: October 2002

AbstractSkewing of X inactivation may contribute to the manifestation of symptoms in adrenoleukodystrophy carriers. We observed highly skewed X inactivation in 32% of 22 symptomatic and asymptomatic carriers but not in 7 related and 35 unrelated controls. Skewing of X inactivation correlated with clinical neurological scores but not with the extent of very long‐chain fatty acid accumulation. Transcript analysis in cultured fibroblasts revealed that skewing could occur both in favor of the mutant and the wild‐type allele. Adrenoleukodystrophy carriers are more susceptible to develop skewing of X inactivation in favor of the mutant allele beiing associated with the manifestation of symptoms.
Vitamin A in the cerebrospinal fluid of patients with and without idiopathic intracranial hypertension
Authors: Warner Judith E. A. , Bernstein Paul S. , Yemelyanov Alexander , Alder Stephen C. , Farnsworth Steven T. , Digre Kathleen B. 
Published: October 2002

AbstractWe quantified vitamin A in the cerebrospinal fluid of patients with idiopathic intracranial hypertension, elevated intracranial pressure of other causes and normal intracranial pressure. Vitamin A could be detected by high‐pressure liquid chromatography in most of the specimens. There was a significantly higher level of vitamin A in the cerebrospinal fluid of some patients with idiopathic intracranial hypertension. Vitamin A toxicity may play a role in the pathogenesis of idiopathic intracranial hypertension.
Hydration of polysaccharide hyaluronan observed by IR spectrometry. I. Preliminary experiments and band assignments
Authors: Haxaire K. , Maréchal Y. , Milas M. , Rinaudo M. 
Published: October 2002

AbstractThis article is the first one in a series dedicated to the study of hyaluronan as observed by IR spectrometry. The goal is to determine its hydration mechanism and the structural changes this mechanism implies. Hyaluronan is a natural polysaccharide that is widely used in biomedical applications and cosmetics. Its macroscopic properties are significantly dependent on its degree of hydration. In this article we record the IR spectrum of a several micron thick dried film and deduce that four or five residual H2O molecules remain around each disaccharide repeat unit in the dried film. We then compare the spectra of sodium hyaluronan and its acid form to assign vibrational bands linked to the carboxylate group. We proceed with a qualitative analysis of the spectral changes induced by changes of temperature and hygroscopicity, two independent parameters that act by modifying the hydrogen bond network of the sample. This enables us to assign most of the vibrational bands of the hydrophilic groups and to distinguish the bands that are due to these hydrophilic groups when they are or are not hydrogen bonded. It constitutes a prerequisite for the quantitative analysis of hydration spectra that will be described in the following articles of this series. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 10–20, 2003
Fourier transform vibrational circular dichroism as a decisive tool for conformational studies of peptides containing tyrosyl residues
Authors: Borics Attila , Murphy Richard F. , Lovas Sándor 
Published: October 2002

AbstractPrevious UV–circular dichroism (UV–CD) and NMR studies showed that Ac‐AAAAAAAEAAKA‐NH2 has an α‐helical structure in 50% (v/v) aqueous trifluoroethanol. Replacement of Ala1 to Ala6 with Tyr results in spectra that show an apparent loss of helicity in the same solvent. This apparent loss of helicity could be attributed to the coupling of the tyrosyl side chain chromophore with the backbone amide. However, such electronic coupling does not affect the vibrational CD (VCD) spectra. The VCD spectra of the peptides with tyrosyl residues were identical to that of the peptide containing no Tyr, which shows the same α‐helical structure. Because it is now clear that Tyr replacement does not change the backbone conformation of peptides, UV–CD measurements should be complemented by VCD to determine the secondary structure when electronic effects can disturb the UV–CD spectrum of the inherent structure. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 21–24, 2003
Theoretical and pH dependent surface enhanced Raman spectroscopy study on caffeine
Authors: Pavel I. , Szeghalmi A. , Moigno D. , Cîntă S. , Kiefer W. 
Published: October 2002

AbstractThe surface enhanced Raman spectroscopy (SERS) spectrum of caffeine is recorded on a silver colloid at different pH values. It is discussed on the basis of the SERS “surface selection rules” in order to characterize its vibrational behavior on such a biological artificial model. To improve the previous assignments in the Raman spectrum and for a reliable, detailed analysis of SERS spectra, density functional theory calculations (structural parameters, harmonic vibrational wavenumbers, total electron density, and natural population analysis of the molecule) are performed for the anhydrous form of caffeine and the results are discussed. The predicted geometry and vibrational Raman spectra are in good agreement with the experimental data. The flat orientation of the mainly chemisorbed caffeine attached through the π electrons and the lone pair of nonmethylated N atoms of the imidazole ring are proposed to occur at neutral and basic pH values. At acid pH values caffeine is probably adsorbed on the Ag surface through one or both oxygen atoms, more probably through the O atom of the conjugated carbonyl group with an end‐on orientation. However, the changes in the overall SERS spectral pattern seem to indicate the electromagnetic mechanism as being the dominant one. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 25–37, 2003
Conformational properties of 2′,5′ linked Rp‐ and Sp‐phosphorothioate oligoadenylates studied by circular dichroism and NMR
Authors: Shimazu Masamitu , Kawai Gohta , Okutsu Tetsuo , Shiozuka Kazuo , Sawai Hiroaki 
Published: October 2002

Abstract2′,5′‐Linked oligoadenylates (2‐5A) are involved in the antiviral action of interferon. The 2‐5A binds and activates 2‐5A dependent RNase (RNase L), which degrades viral mRNA, resulting in the inhibition of protein synthesis. 2′,5′‐Linked phosphorothioate oligoadenylates with an Rp configuration bind to and activate the RNase L. On the other hand, 2′,5′ phosphorothioate oligoadenylate with an Sp configuration weakly binds to the RNase L and is devoid of the RNase L activation ability. Comparative circular dichroism (CD) and NMR studies are carried out to characterize the difference in properties between the two configurations of the 2′,5′ phosphorothioate oligoadenylates. 2′,5′ Rp‐Phosphorothioate oligoadenylates showed CD spectra similar to those of the corresponding native 2′,5′ oligoadenylates, while the 2′,5′ Sp‐phosphorothioate oligoadenylates exhibited a weaker CD band compared to the former two, indicating the weaker base‐stacking interaction of the 2′,5′ Sp‐phosphorothioate oligoadenylates. The temperature‐dependent change in the CD revealed that 2′,5′ phosphorothioate oligoadenylates showed larger ΔH° and ΔS° values for the thermal transition of the conformation than the corresponding native 2′,5′ oligoadenylates. The NMR spectral assignment was accomplished by several NMR measuring techniques. The 2′‐H of the ribose ring linked to the 2′,5′ Sp‐phosphorothioate showed a higher field chemical shift of the proton NMR than that linked to the corresponding 2′,5′ Rp‐phosphorothioate. 2′,5′ Rp‐ and Sp‐phosphorothioate oligoadenylates possess a sugar conformation similar to that of the corresponding native 2′,5′ oligoadenylates. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 48–58, 2003
Removal of blood components from cervical smears: Implications for cancer diagnosis using FTIR spectroscopy
Authors: Romeo Melissa J. , Wood Bayden R. , Quinn Michael A. , McNaughton Don 
Published: October 2002

AbstractRed and white cell lysis buffers were investigated to determine their ability to remove blood components from cervical smears prior to IR microspectroscopy. A white cell lysis buffer was effective in increasing the spectral reproducibility and sample homogeneity and in reducing the presence of inflammatory exudate, particularly leukocytes, from cervical smears. The reduction of leukocytes appeared to cause abnormal samples to be grouped with normal samples, resulting in poor discrimination. Despite differences between the cytological and histological diagnoses of cervical abnormalities, the results indicate that the differences seen in the spectra of exfoliated malignant and nonmalignant cervical cells could be due to the presence of inflammation. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 69–76, 2003
Effect of psoralens on Fenton‐like reaction generating reactive oxygen species
Authors: Aboul‐Enein Hassan Y. , Kladna Alexandra , Kruk Irena , Lichszteld Krzysztof , Michalska Teresa 
Published: October 2002

AbstractPsoralens (psoralen, 5‐methoxypsoralen, 8‐methoxypsoralen, khellin, and visnagin) in 1 mM doses were shown to enhance the generation of reactive oxygen species, such as the hydroxyl radical (HO·), the superoxide anion radical (
), and singlet oxygen (1O2), from the system generating chemiluminescence (CL), as well as free radicals in the absence of light. The system that generated CL was made up of CoCl2 and H2O2. Incubation of psoralens in 0.2 mM doses with the generating system showed that only 8‐methoxypsoralen and khellin have antioxidative effects. Antioxidative effects were also observed in the case of visnagin but in low concentration (0.05 mM). High doses of psoralens (1 mM) showed prooxidative effects. Measurements were done using a deoxyribose assay, the CL method, and spin‐trapping with 5,5‐dimethyl‐1‐pyrroline‐N‐oxide and 2,2,6,6‐tetramethylpiperidine combined with electron spin resonance spectroscopy and spectrophotometry methods. © 2002 Wiley Periodicals, Inc. Biopolymers (Biospectroscopy) 72: 59–68, 2003
Laboratory‐scale continuous reactor for soluble selenium removal using selenate‐reducing bacterium, Bacillus sp. SF‐1
Authors: Fujita Masanori , Ike Michihiko , Kashiwa Masami , Hashimoto Ryoko , Soda Satoshi 
Published: October 2002

AbstractA model continuous flow bioreactor (volume 0.5 L) was constructed for removing toxic soluble selenium (selenate/selenite) of high concentrations using a selenate‐reducing bacterium, Bacillus sp. SF‐1, which transforms selenate into elemental selenium via selenite for anaerobic respiration. Model wastewater contained 41.8 mg‐Se/L selenate and excess lactate as the carbon and energy source; the bioreactor was operated as an anoxic, completely mixed chemostat with cell retention time between 2.2–95.2 h. At short cell retention times selenate was removed by the bioreactor, but accumulation of selenite was observed. At long cell retention times soluble selenium, both selenate and selenite, was successfully reduced into nontoxic elemental selenium. A simple mathematical model is proposed to evaluate Se reduction ability of strain SF‐1. First‐order kinetic constants for selenate and selenite reduction were estimated to be 2.9 × 10−11 L/cells/h and 5.5 × 10−13 L/cells/h, respectively. The yield of the bacterial cells by selenate reduction was estimated to be 2.2 × 109 cells/mg‐Se. © 2002 Wiley Periodicals, Inc. Biotechnol Bioeng 80: 755–761, 2002.
Process control for enhanced L‐phenylalanine production using different recombinant Escherichia coli strains
Authors: Gerigk M. , Bujnicki R. , Ganpo‐Nkwenkwa E. , Bongaerts J. , Sprenger G. , Takors R. 
Published: October 2002

AbstractA novel fed‐batch approach for the production of L‐phenylalanine (L‐Phe) with recombinant E. coli is presented concerning the on‐line control of the key fermentation parameters glucose and tyrosine. Two different production strains possessing either the tyrosine feedback resistant aroFfbr (encoding tyrosine feedback resistant DAHP‐synthase (3‐desoxy‐D‐arabino‐heptusonate‐7‐phosphate)) or the wild‐type aroFwt were used as model systems to elucidate the necessity of finding an individual process optimum for each genotype. With the aid of tyrosine control, wild‐type aroFwt could be used for L‐Phe production achieving higher final L‐Phe titers (34 g/L) than the aroFfbr strain (28 g/L) and providing higher DAHP‐synthase activities. With on‐line glucose control, an optimum glucose concentration of 5 g/L could be identified that allowed a sufficient carbon supply for L‐Phe production while at the same time an overflow metabolism leading to acetate by‐product formation was avoided. The process approach is suitable for other production strains not only in lab‐scale but also in pilot‐scale bioreactors. © 2002 Wiley Periodicals, Inc. Biotechnol Bioeng 80: 746–754, 2002.