bluuebunny/crossref_metadata_2025_split huggingface dataset:
Physicochemical Profile Studies of Soil Along the Banks of Ubu River in Ekwusigo and Nnewi Local Government Areas of Anambra State of Nigeria
Authors: Uzoukwu Bieluonwu Augustus , Onomake Okiemute Rosa 
Published: January 2005

AbstractA physicochemical profile study on the soil along the banks of the Ubu river that runs across Ekwusigo and Nnewi Local Government Areas (LGA) of Anambra State of Nigeria was investigated for possible evidence of industrial waste disposal by the various large to medium scale industrial activities taking place within the two LGAs. When compared with soil samples from Uzoakwa Ihiala (pH 5.44) with little or no industrial activities, the soil along the banks of the course of the river were found to be more acidic with mean pH values that are lower than 4.7. Similarity in mean sulphate (7.01 mg/kg), phosphate (12.95 mg/kg) and chloride (242 mg/kg) contents was observed between the soils from the banks at Nnewi with those of the Uzoakwa Ihiala that was used as control. This was attributed to contributions from domestic sources rather than from industrial sources, and partly to the similarity of their soil chemistry that may be indigenous to both areas. Electrical conductivity values (55 ‐74 μS/cm) show that the ionic content of the soil is lower than those of the control (129 μS/cm). This may have been explained by the higher extractible Ca (175.73 mg/kg), K (34.32 mg/kg), and Mg (1.94 mg/kg) recorded for the control. The abundance of the metals extractible from the soils of the river banks follow the sequence Ca>K>Na>Fe. Results for the digested soil samples show that Fe is the most abundant metal in the soil with mean values that are close to 13, 000 mg/kg, but is much lower than the mean value of 39, 210 mg/kg recorded for the control. Both bank and control samples can be characterized as ferrous. The relative abundance of metal ions observed in the digested soil samples from the river banks follow the sequence Fe>>Al>Ca>Na>K>Zn>Cr. Values of 4, 565 mg/kg and 300 mg/kg were recorded for total hydrocarbon content and lead respectively for soils around Cento Group, indicating that there were industrial waste disposal or spillages on soil around the area, which was not observed in other areas.
Valproate embryopathy: Clinical and cognitive profile in 5 siblings
Authors: Schorry Elizabeth K. , Oppenheimer Sonya G. , Saal Howard M. 
Published: January 2005

AbstractValproate embryopathy is a well recognized syndrome caused by prenatal exposure to the anticonvulsant valproic acid (Depakote). We report five half‐siblings with the same mother (four different fathers) who all have valproate embryopathy. Valproic acid was the sole anticonvulsant in all five pregnancies, with doses ranging from 500 to 2,000 mg per day. All children were examined by a clinical geneticist and developmental pediatrician, and had formal developmental testing. Mean birth weight at term was 2,900 g (range: 2,400–3,400 g). Common features in the five children included: flat, broad nasal bridge (5/5), hypoplastic midface (4/5), apparent hypertelorism/telecanthus (4/5), smooth philtrum (4/5), thin upper lip (5/5), long thin tapering fingers (4/5), hypoplastic 5th toenails (2/5), and irregularly placed toes (2/5). Less frequent features were micro/brachycephaly (2/5), cleft palate (1/5), duplication cyst of small intestine (1/5), and hemangioma (1/5). None had neural tube defect. Neuropsychologic testing of the three children older than 4 years of age showed cognitive ability in the low normal or borderline range (mean IQ = 83; range: 75–86), with significantly lower scores in adaptive behavior and motor skills. Study of this family offers insight into the potentially high risk of valproate embryopathy in exposed pregnancies, and affords a unique opportunity to study the variability of expression and cognitive profile of the syndrome within one family. © 2005 Wiley‐Liss, Inc.
Factors related to the development of communication in CHARGE syndrome
Authors: Thelin James W. , Fussner Jill C. 
Published: January 2005

AbstractParents of 28 children and a young adult with CHARGE syndrome participated in a survey on factors related to communication development. Information was obtained using a questionnaire and a follow‐up interview. Parents were asked to (1) specify their child's primary mode of communication, (2) judge the significance of the effects of physical disorders, sensory deficits, and behavior on development and communication, (3) provide lists of their child's conditions and disorders, and (4) provide information about intervention related to communication and education. Thirty‐nine percent of the participants (11/28) did not use symbolic language to communicate. The results suggest that factors affecting the majority of participants—physical disorders, vision loss, and hearing loss—may adversely affect communication ability. However, these factors did not preclude the development of symbolic language. Factors that were related to the development of symbolic language were success in the treatment of hearing loss with amplification, the ability to walk independently, and communication training initiated by 3 years of age. Other factors that may be related to the development of symbolic language are also discussed. © 2005 Wiley‐Liss, Inc.
Microglial activation and dopamine terminal loss in early Parkinson's disease
Authors: Ouchi Yasuomi , Yoshikawa Etsuji , Sekine Yoshimoto , Futatsubashi Masami , Kanno Toshihiko , Ogusu Tomomi , Torizuka Tatsuo 
Published: January 2005

AbstractNeuroinflammatory glial response may contribute to degenerative processes in Parkinson's disease (PD). To investigate changes in microglial activity associated with changes in the presynaptic dopamine transporter density in the PD brain in vivo, we studied 10 early‐stage drug‐naive PD patients twice using positron emission tomography with a radiotracer for activated microglia [11C](R)‐PK11195 and a dopamine transporter marker [11C]CFT. Quantitative levels of binding potentials (BPs) of [11C](R)‐PK11195 and [11C]CFT in the nigrostriatal pathway were estimated by compartment analyses. The levels of [11C](R)‐PK11195 BP in the midbrain contralateral to the clinically affected side were significantly higher in PD than that in 10 age‐matched healthy subjects. The midbrain [11C](R)‐PK11195 BP levels significantly correlated inversely with [11C]CFT BP in the putamen and correlated positively with the motor severity assessed by the Unified Parkinson's Disease Rating Scale in PD. In healthy subjects, the [11C](R)‐PK11195 BP in the thalamus and midbrain showed an age‐dependent increase. In vivo demonstration of parallel changes in microglial activation and corresponding dopaminergic terminal loss in the affected nigrostriatal pathway in early PD supports that neuroinflammatory responses by intrinsic microglia contribute significantly to the progressive degeneration process of the disease and suggests the importance of early therapeutic intervention with neuroprotective drugs. Ann Neurol 2005;57:168–175
Acetylcholine receptors loss and postsynaptic damage in MuSK antibody–positive myasthenia gravis
Authors: Shiraishi Hirokazu , Motomura Masakatsu , Yoshimura Toshiro , Fukudome Takayasu , Fukuda Taku , Nakao Yoko , Tsujihata Mitsuhiro , Vincent Angela , Eguchi Katsumi 
Published: January 2005

AbstractMuscle‐specific tyrosine kinase (MuSK) antibodies are found in some patients with “seronegative” myasthenia gravis (MG), but how they cause myasthenic symptoms is not clear. We visualized acetylcholine receptors (AChRs) and complement component 3 (C3) in muscle biopsies from 10 Japanese MG patients with MuSK antibodies, compared with 42 with AChR antibodies. The AChR density was not significantly decreased in MuSK antibody (Ab)–positive end‐plates compared with AChR antibody–positive end‐plates, and C3 was detected in only two of eight MuSK Ab–positive patients. MuSK antibodies do not appear to cause substantial AChR loss, complement deposition, or morphological damage. Effects on MuSK function need to be explored. Ann Neurol 2005;57:289–293
A responsive outcome for Parkinson's disease neuroprotection futility studies
Authors: Elm Jordan J. , Goetz Christopher G. , Ravina Bernard , Shannon Kathleen , Wooten George Fredrick , Tanner Caroline M. , Palesch Yuko Y. , Huang Peng , Guimaraes Paulo , Kamp Cornelia , Tilley Barbara C. , Kieburtz Karl 
Published: January 2005

AbstractFutility studies are designed to test new treatments over a short period in a small number of subjects to determine if those treatments are worthy of larger and longer term studies, or if they should be abandoned. An appropriate outcome measure for a neuroprotection futility study in Parkinson's disease (sensitive to tracking disease progression in the short‐term) has not been determined. Data sets from three clinical trials were used to compare Parkinson's disease outcome measures. Total Unified Parkinson's Disease Rating Scale (UPDRS; Mentation + Activities of Daily Living + Motor) change and Motor plus Activities of Daily Living UPDRS change, measured in untreated patients, required the smallest sample sizes of all the outcome measures explored. Other outcomes (UPDRS Motor, UPDRS Activities of Daily Living, and time to need levodopa) required somewhat larger sample sizes. Futility designs in Parkinson's disease are feasible in terms of short duration and small sample size requirements, and this design is being applied in two ongoing Parkinson's disease studies to select agents for future larger and longer term neuroprotection studies. Ann Neurol 2005;57:197–203
Paradoxical features of word finding difficulty in primary progressive aphasia
Authors: Vandenberghe Rik R. , Vandenbulcke Mathieu , Weintraub Sandra , Johnson Nancy , Porke Kathleen , Thompson Cynthia K. , Mesulam Marsel M. 
Published: January 2005

AbstractImpaired word retrieval is a main symptom of primary progressive aphasia (PPA). The cognitive features of this impairment in PPA are poorly understood. We studied 12 patients with PPA (6 English‐speaking and 6 Dutch‐speaking), 7 patients with early‐stage clinically probable Alzheimer's disease (PRAD), 5 patients with mild cognitive impairment (MCI), and 15 age‐matched, cognitively intact, control subjects. Subjects had to name a picture (the probe), which was preceded by a written word (the prime) that could be the correct name of the picture, a noun belonging to the same semantic subcategory (related prime), a semantically unrelated noun (unrelated prime), or a pseudoword (neutral control). Naming latencies were longer in PPA and PRAD patients than in control subjects. Critically, the interaction between group and prime type was highly significant. PPA patients named the probe more slowly after a related compared with an unrelated prime. In contrast, PRAD patients, mild cognitive impairment patients, and healthy control subjects tended to name the probe faster when it was preceded by a related prime. The semantic interference effect in PPA generalized across languages and PPA subtypes. Selection among competing word forms sharing a same semantic field is abnormal in PPA. The semantic interference effect constitutes a positive distinguishing feature between PPA and PRAD. Ann Neurol 2005;57:204–209
Is optic neuritis more benign than other first attacks in multiple sclerosis?
Authors: Tintoré Mar , Rovira Alex , Rio Jordi , Nos Carlos , Grivé Elisensa , Téllez Neus , Pelayo Raul , Comabella Manuel , Montalban Xavier 
Published: January 2005

AbstractOptic neuritis presentations are thought to have a better prognosis. The aim of our study was to compare conversion to multiple sclerosis on the different topographies of CISs. We prospectively evaluated 320 patients with CISs (123 with optic neuritis, 78 with brainstem syndromes, 89 with spinal cord syndromes, and 30 with other topographies) who were observed for a median of 39 months. Patients underwent brain MRI within 3 months of their first attack and again 12 months later. Conversion to multiple sclerosis determined either clinically or by MRI was evaluated according to topography. Baseline MRI was normal in 49.2% of patients with optic neuritis compared with 24% in brainstem syndromes, 24% in spinal cord syndromes, and 18.5% in other syndromes. Optic neuritis behaved differently from the other CISs for lower conversion to clinically definite multiple sclerosis and smaller proportion of patients fulfilling MRI dissemination in space, time, or both. Nevertheless, when only patients with abnormal cranial MRI results at baseline were selected, no differences for clinical or MRI conversion were found. Optic neuritis has a smaller risk for conversion to multiple sclerosis. Nevertheless, MRI at baseline, not CIS topography, appears to be the crucial issue at multiple sclerosis presentation. Ann Neurol 2005;57:210–215
IgM deposits on skin nerves in anti–myelin‐associated glycoprotein neuropathy
Authors: Lombardi Raffaella , Erne Beat , Lauria Giuseppe , Pareyson Davide , Borgna Monica , Morbin Michela , Arnold Andreas , Czaplinski Adam , Fuhr Peter , Schaeren‐Wiemers Nicole , Steck Andreas J. 
Published: January 2005

AbstractAnti–myelin‐associated glycoprotein (anti‐MAG) neuropathy is a chronic demyelinating neuropathy with predominant involvement of large sensory fibers and deposits of IgM and complement on sural nerve myelinated fibers. We assessed the presence of IgM deposits on skin myelinated nerve fibers and the involvement of unmyelinated axons in anti‐MAG neuropathy. Skin biopsies were performed in 14 patients with anti‐MAG neuropathy, in 8 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and in 2 patients with IgM paraproteinemic neuropathy. Biopsies were taken at the proximal thigh in 20 patients, at the distal leg in 21 patients, at the proximal arm in 13 patients, and at the hand or fingertip in 10 patients. We found IgM deposits on dermal myelinated fibers in all anti‐MAG neuropathy patients, with a greater prevalence at the distal site of the extremities. Deposits were located throughout the length of the fibers and at the paranodal loops. CIDP and IgM paraproteinemic neuropathies did not show any deposit of IgM. Anti‐MAG neuropathy and CIPD patients showed a decrease in epidermal nerve fiber density reflecting an associated axonal loss. In anti‐MAG neuropathy, both large‐ and small‐diameter nerve fibers are affected, and specific deposits of IgM are found on skin myelinated nerve fibers. Ann Neurol 2005;57:180–187
Blood–brain barrier dysfunction in parkinsonian midbrain in vivo
Authors: Kortekaas Rudie , Leenders Klaus L. , van Oostrom Joost C. H. , Vaalburg Willem , Bart Joost , Willemsen Antoon T. M. , Hendrikse N. Harry 
Published: January 2005

AbstractParkinson's disease (PD) is associated with a loss of neurons from the midbrain. The cause of PD is unknown, but it is established that certain neurotoxins can cause similar syndromes. The brain is normally protected from these noxious blood‐borne chemicals by the blood–brain barrier which includes specialized proteins on the inside of blood vessels in the brain. These act as molecular efflux pumps and P‐glycoprotein (P‐gp) is an abundant representative. Vulnerability to PD appears codetermined by the genotype for the P‐gp gene. We hypothesized that PD patients have reduced P‐gp function in the blood–brain barrier. We used positron emission tomography to measure brain uptake of [11C]‐verapamil, which is normally extruded from the brain by P‐gp. Here, we show significantly elevated uptake of [11C]‐verapamil (18%) in the midbrain of PD patients relative to controls. This is the first evidence supporting a dysfunctional blood–brain barrier as a causative mechanism in PD. Ann Neurol 2005;57:176–179
Intraputamenal infusion of glial cell line–derived neurotrophic factor in PD: A two‐year outcome study
Authors: Patel Nikunj K. , Bunnage Martin , Plaha Puneet , Svendsen Clive N. , Heywood Peter , Gill Steven S. 
Published: January 2005

AbstractWe have shown previously that intraparenchymal infusion of glial cell line–derived neurotrophic factor (GDNF) continuously into the posterior putamen in five Parkinson's disease patients is safe and may represent a new treatment option. Here, we report a continuation of this phase I study. After 2 years of continual GDNF infusion, there were no serious clinical side effects and no significant detrimental effects on cognition. Patients showed a 57% and 63% improvement in their off‐medication motor and activities of daily living subscores of the Unified Parkinson's Disease Rating Scale, respectively, and health‐related quality‐of‐life measures (Parkinson's Disease Questionnaire–39 and Short Form–36) showed general improvement over time. Ann Neurol 2005;57:298–302
Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23‐q24
Authors: McEntagart Meriel E. , Reid Sarah L. , Irtthum Alexandre , Douglas Jenny B. , Eyre Keith E. D. , Donaghy Michael J. , Anderson Neil E. , Rahman Nazneen 
Published: January 2005

AbstractHereditary motor and sensory neuropathy type IIC (HMSN IIC) is an autosomal dominant axonal neuropathy. The cardinal features include distal muscle wasting and weakness, vocal cord paralysis, and mild sensory impairment. Recently, HMSN IIC locus was mapped to chromosome 12q23‐24. Two families affected by HMSN IIC were identified and evaluated for linkage to this region. Segregation analysis in both families was consistent with linkage to chromosome 12q23‐24. Combined analysis generated a multipoint LOD score of 2.1 at marker D12S1583 and refined the HMSN IIC gene interval to The clinical and molecular findings are discussed.Ann Neurol 2005;57:293–297
Mutations in ZASP define a novel form of muscular dystrophy in humans
Authors: Selcen Duygu , Engel Andrew G. 
Published: January 2005

AbstractMyofibrillar myopathy (MFM) is a morphologically distinct disorder in which disintegration of the Z‐disk and then of the myofibrils is followed by abnormal accumulation of multiple proteins. Mutations in desmin, αB‐crystallin, and myotilin, all Z‐disk–related proteins, cause MFM in the minority of cases. ZASP (a Z‐band alternatively spliced PDZ motif‐containing protein) is another Z‐disk–associated protein, and targeted deletion of ZASP in mouse causes skeletal and cardiac myopathy. We therefore searched for mutations in ZASP in 54 MFM patients and detected 3 heterozygous missense mutations in 11. Their age at onset was 44 to 73 years. Dominant inheritance was apparent in seven patients, cardiac involvement in three, and signs of peripheral neuropathy in five. Most patients had proximal and distal weakness, but in six, the weakness was greater distally than proximally. Ten carried either of two mutations in exon 6 (A147T and A165V) at or within a motif important in linking ZASP to the Z‐disk; one carried a missense mutation in exon 9 (R268C). We conclude that (1) mutations in ZASP cause stereotyped MFM pathology; (2) cardiomyopathy, distal more than proximal weakness, and neuropathy are in the spectrum of zaspopathy; and (3) mutations in ZASP define a novel form of autosomal dominant muscular dystrophy in humans. Ann Neurol 2005;57:269–276
Bone mass and turnover in women with epilepsy on antiepileptic drug monotherapy
Authors: Pack Alison M. , Morrell Martha J. , Marcus Robert , Holloway Leah , Flaster Edith , Doñe Silvia , Randall Alison , Seale Cairn , Shane Elizabeth 
Published: January 2005

AbstractAntiepileptic drugs, particularly cytochrome P450 enzyme inducers, are associated with disorders of bone metabolism. We studied premenopausal women with epilepsy receiving antiepileptic drug monotherapy (phenytoin, carbamazepine, valproate, and lamotrigine). Subjects completed exercise and nutrition questionnaires and bone mineral density studies. Serum was analyzed for indices of bone metabolism including calcium, 25‐hydroxyvitamin D, parathyroid hormone, insulin growth factor I, insulin binding protein III, and bone formation markers, bone‐specific alkaline phosphatase, and osteocalcin. Urine was analyzed for cross‐linked N‐telopeptide of type I collagen, a bone resorption marker. Calcium concentrations were significantly less in subjects receiving carbamazepine, phenytoin, and valproate than in those receiving lamotrigine (p = 0.008). Insulin growth factor‐I was significantly reduced in subjects receiving phenytoin compared with those receiving lamotrigine (p = 0.017). Subjects receiving phenytoin had significantly greater levels of bone‐specific alkaline phosphatase (p = 0.007). Our results demonstrate that phenytoin is associated with changes in bone metabolism and increased bone turnover. The lower calcium concentrations in subjects taking carbamazepine or valproate compared with those taking other antiepileptic drugs suggest that these antiepileptic drugs may have long‐term effects. Subjects receiving lamotrigine had no significant reductions in calcium or increases in markers of bone turnover, suggesting this agent is less likely to have long‐term adverse effects on bone. Ann Neurol 2005;57:252–257
Gene expression profile of spinal motor neurons in sporadic amyotrophic lateral sclerosis
Authors: Jiang Yue‐Mei , Yamamoto Masahiko , Kobayashi Yasushi , Yoshihara Tsuyoshi , Liang Yideng , Terao Shinichi , Takeuchi Hideyuki , Ishigaki Shinsuke , Katsuno Masahisa , Adachi Hiroaki , Niwa Jun‐Ichi , Tanaka Fumiaki , Doyu Manabu , Yoshida Mari , Hashizume Yoshio , Sobue Gen 
Published: January 2005

AbstractThe causative pathomechanism of sporadic amyotrophic lateral sclerosis (ALS) is not clearly understood. Using microarray technology combined with laser‐captured microdissection, gene expression profiles of degenerating spinal motor neurons isolated from autopsied patients with sporadic ALS were examined. Gene expression was quantitatively assessed by real‐time reverse transcription polymerase chain reaction and in situ hybridization. Spinal motor neurons showed a distinct gene expression profile from the whole spinal ventral horn. Three percent of genes examined were downregulated, and 1% were upregulated in motor neurons. Downregulated genes included those associated with cytoskeleton/axonal transport, transcription, and cell surface antigens/receptors, such as dynactin, microtubule‐associated proteins, and early growth response 3 (EGR3). In contrast, cell death–associated genes were mostly upregulated. Promoters for cell death pathway, death receptor 5, cyclins A1 and C, and caspases‐1, ‐3, and ‐9, were upregulated, whereas cell death inhibitors, acetyl‐CoA transporter, and NF‐κB were also upregulated. Moreover, neuroprotective neurotrophic factors such as ciliary neurotrophic factor (CNTF), Hepatocyte growth factor (HGF), and glial cell line–derived neurotrophic factor were upregulated. Inflammation‐related genes, such as those belonging to the cytokine family, were not, however, significantly upregulated in either motor neurons or ventral horns. The motor neuron–specific gene expression profile in sporadic ALS can provide direct information on the genes leading to neurodegeneration and neuronal death and are helpful for developing new therapeutic strategies. Ann Neurol 2005;57:236–251