bluuebunny/crossref_metadata_2025 huggingface dataset:
Clinicopathological features of pure mica pneumoconiosis associated with Sjögren syndrome
Authors: Kobayashi Hideo , Ohara Ichiyo , Kanoh Soichiro , Motoyoshi Kazuo , Aida Shinsuke , Kohyama Norihiko
Published: February 2004

Background

There are few reports on the clinical, radiologic, and pathologic features of pure mica pneumoconiosis.

Methods

A case of definite pure mica pneumoconiosis in a rubber factory worker is reported with the clinicopathological findings.

Results

Chest HRCT demonstrated subpleural and peribronchovascular interstitial thickening. The characteristic histologic features were pulmonary fibrosis accompanied by prominent histiocytic granulomas containing giant cells.

Conclusions

Pure mica pneumoconiosis can be identified by specific radiologic and pathologic findings. Am. J. Ind. Med. 45:246–250, 2004. © 2004 Wiley‐Liss, Inc.
Attorney‐directed screenings can be hazardous
Authors: Egilman David , Bohme Susanna Rankin
Published: February 2004

Background

The history of occupational health screenings indicate that they are often necessary to protect the health and interests of workers. However, medical screenings for asbestos and other occupational diseases which are organized and funded by attorneys may result in serious adverse outcomes to those screened.

Methods

We report a case of death that appears to have been heavily influenced by an attorney‐initiated and ‐directed screening program.

Results

While well‐run medical screening programs are essential to disease detection in workers, attorney‐run and corporate screenings can be fraught with ethical and practical problems. Screenings have been used by corporations to identify workers with occupational illness in order to terminate their employment and avoid legal liability. Screenings can also be used to motivate workers to stop smoking and implement workplace controls. However, these screenings must be conducted responsibly.

Conclusions

Although this is only one case it illustrates the gravity and potential danger of attorney‐directed screening programs. Am. J. Ind. Med. 45:305–307, 2004. © 2004 Wiley‐Liss, Inc.
Melorheostosis may originate as a type 2 segmental manifestation of osteopoikilosis
Authors: Happle Rudolf
Published: February 2004

Melorheostosis is a non‐hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder. © 2003 Wiley‐Liss, Inc.
Hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome: A case report
Authors: Kondoh Tatsuro , Eguchi Jiro , Hamasaki Yoichiro , Doi Tomoki , Kinoshita Eiichi , Matsumoto Tadashi , Abe Kuniko , Ohtani Yoshinobu , Moriuchi Hiroyuki
Published: February 2004

We report on a 3‐year‐old boy with circumferential skin creases as seen in Michelin tire baby syndrome (MTBS), hearing impairment, undescended testes, short stature, and mental handicap. Skin biopsy from the inguinal region showed degenerative collagen, which has never been found in MTBS. Similar clinical manifestations shared by our patient and a boy reported previously suggest a new clinical entity, in which degenerative collagen is etiologically involved. We propose an acronym to designate it: hearing impairment, undescended testis, circumferential skin creases, and mental handicap (HITCH) syndrome. © 2003 Wiley‐Liss, Inc.
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype
Authors: Tarnopolsky Mark A. , Bourgeois J.M. , Fu M‐H. , Kataeva G. , Shah J. , Simon D.K. , Mahoney D. , Johns D. , MacKay N. , Robinson B.H.
Published: February 2004

Rare cases of suspected spinal muscular atrophy (SMA) have been found to have cytochrome c oxidase (COX) deficiency. To date, four cases with SMA features have been reported in children with mutations in the synthesis of cytochrome oxidase 2 (SCO2) gene. We report a male neonate who was born hypotonic, with persistent lactic acidosis, spontaneous activity with EMG testing, development of respiratory distress in the first few hours of life, and died at 30 days of age with progressive cardiomyopathy. Testing for survival motor neurone (smn) and NAIP deletions were negative and a skeletal muscle biopsy showed neurogenic features with severe reductions of COX enzymatic and histochemical staining intensity. Post‐mortem muscle, heart, and liver biopsies showed severe, moderate, and mild reductions in COX activity, respectively, with parallel findings in the protein content for the mitochondrial DNA (COII) and nuclear DNA (COIV) encoded subunits. DNA sequencing of exon 2 of the SCO2 gene revealed compound heterozygosity with mutations at G1541A (common mutation, E140K) and also at a novel site in the copper binding region (G1521A in the current case (converting a highly conserved cysteine to serine (C133S)); mother heterozygous for G1521A; and father heterozygous for G1541A). This case provides strong support that SCO2 mutations can result in neonatal hypotonia with an SMA 1 phenotype. SCO2 mutations should be screened in suspected SMA cases with normal smn mutation analysis and any one of; cardiomyopathy, lactic acidosis, or COX deficiency in muscle. © 2003 Wiley‐Liss, Inc.
Segregation analysis of bronchial hyperresponsiveness in a general population in north italy
Authors: Kurzius‐Spencer Margaret , Holberg Catharine J. , Sherrill Duane L. , Carrozzi Laura , Di Pede Francesco , Baldacci Sandra , Viegi Giovanni
Published: February 2004

Bronchial hyperresponsiveness (BHR) is an intermediate phenotype of asthma, with a heritability component of 30–67% and possible linkage to regions on chromosome arms 5q, 11q, and 20p. Familial correlation analysis and segregation analysis for BHR, using the FCOR and REGC programs of the S.A.G.E package, were performed to examine inheritance patterns of BHR in a general population of 1,167 subjects in 550 families from the Po River Delta. BHR was assessed using the log10of the slope of the methacholine dose‐response curve (log slope) for each subject who met inclusion criteria. Using multiple linear regression analysis, the log slope values were adjusted for age, age2, sex, and height, and used in the familial correlation and segregation analyses. Father–offspring correlations are statistically significant, due specifically to high father–son correlations (r = 0.296,P < 0.001, adjusted values). Segregation analysis of BHR in the overall population, with and without a smoking covariate (number of packyears smoked), indicates an apparent absence of genetic transmission within families. However, in a segregation analysis of BHR in smoking families only, after adjusting for number of packyears smoked, the Mendelian transmission models could not be rejected. This may be evidence of a gene by smoking effect, and suggests that in families of smokers, a single locus gene may in part explain the inheritance of a compound phenotype (BHR × packyears). © 2003 Wiley‐Liss, Inc.
A diagnostic conundrum: Two siblings with features overlapping the Kabuki and Malpuech syndromes. A new MCA syndrome?
Authors: Galán‐Gómez Enrique , Carbonell‐Pérez José M. , Cardesa‐García Juan J. , Val‐Sánchez de León José M. , Campo‐Sampedro Francisco M. , Martínez‐Frías María Luisa , Frías Jaime L.
Published: February 2004

We report two siblings, a boy and a girl, with a constellation of anomalies that overlap the phenotypes of Kabuki and Malpuech syndromes. Both patients had a facial appearance suggestive of Kabuki syndrome, sagittal vertebral clefts, and short fifth fingers. In addition, the girl had brachydactyly of the index finger, and the boy, cleft lip and palate, mild postnatal growth deficiency, coarctation of the aorta, ventricular septal defect, patent ductus arteriosus, and a caudal appendage. The fact that this pattern of anomaly occurred in siblings, together with the presence of sparse eyebrows medially, rather than laterally, in both patients and a caudal appendage in the boy, militates against the diagnosis of Kabuki syndrome. Furthermore, the presence of a caudal appendage in a child with cleft lip and cleft palate and renal abnormalities is suggestive of Malpuech syndrome. The normal growth pattern and psychomotor development observed in both children, however, is inconsistent with this diagnosis, although they may represent a milder end of the phenotypic spectrum for Malpuech syndrome. Alternatively, we conclude that the condition may represent a distinct multiple congenital anomaly (MCA) syndrome. The occurrence of a pattern of MCA in two siblings with phenotypically normal parents and normal cytogenetic studies, including high‐resolution banding and subtelomeric probes, points toward an autosomal recessive mode of inheritance. However, germinal mosaicism and other types of non‐traditional inheritance, such as a defect in genomic imprinting or uniparental disomy, should also be considered. © 2003 Wiley‐Liss, Inc.
Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses
Authors: Gabrielli Orazio , Polonara Gabriele , Regnicolo Luana , Petroni Valeria , Scarabino Tommaso , Coppa Giovanni V. , Salvolini Ugo
Published: February 2004

Mucopolysaccharidoses (MPSs) are a group of inherited disorders due to lysosomal enzyme deficiencies which lead to multi‐organ accumulation of glycosaminoglycans. Some forms of MPS disorders are characterized by various degrees of mental retardation. Magnetic Resonance Imaging (MRI) is the primary imaging technique to detect CNS alterations. The aim of this study is to evaluate the correlation between white matter (WM) alterations and the presence of mental retardation. We analyzed 20 patients with different forms of MPSs, 11 with mental retardation and 9 with a normal cognitive function; all of them underwent brain MRI and received a score on the basis of the alterations (WM alterations; perivascular, subarachnoid, and ventricular space enlargement; abnormalities of the basal ganglia, of the corpus callosum and of the atlanto‐axial joint). All patients with mental retardation presented severe WM alterations, while only five out of the nine subjects without mental retardation showed certainly WM abnormalities. As far as the other cerebral abnormalities are concerned, no difference between the two groups has been found. These data seem to show that there is a significant correlation between the presence of WM alterations and mental retardation. © 2003 Wiley‐Liss, Inc.
Limb deficiency defects, MSX1, and exposure to tobacco smoke
Authors: Carmichael Suzan L. , Shaw Gary M. , Yang Wei , Lammer Edward J. , Zhu Huiping , Finnell Richard H.
Published: February 2004

There is increasing evidence from epidemiologic studies that genetic susceptibilities may modify the teratogenic effects of smoking. A previous study suggested that maternal smoking in the presence of a dinucleotide repeat polymorphism for MSX1 produced an almost fivefold increased risk for limb anomalies, providing evidence for a gene–environment interaction. The current study examined this potential interaction, using case‐control data with several methodologic improvements, including a larger sample size and more detailed information on cigarette smoke exposures. Cases (n = 92) were ascertained from pregnancies ending in 1987–1989, and controls (n = 180) were randomly selected from eligible liveborn infants. In telephone interviews, women reported smoking behaviors during the month before pregnancy through the end of the first trimester. Odds ratios (OR) for maternal and paternal smoking ranged from 1.0 to 1.4, risk estimates were imprecise; for example, the OR for maternal smoking ≥20 cigarettes per day, versus none, was 1.3 (95% confidence interval (CI) 0.5–3.4). Relative to the homozygous wildtype, the OR was 1.5 (95% CI 0.7–3.5) for the homozygous variant genotype and 0.8 (95% CI 0.5–1.4) for the heterozygous variant genotype. There was no evidence that maternal smoking or both parents smoking, in combination with a susceptible MSX1 genotype, conferred an additional increase in risk of limb defects. This study did not find a gene–environment interaction between maternal smoking, infant MSX1 CA repeat polymorphism, and risk of limb deficiency defects. This finding contrasts with results of a previous study, which provided initial evidence for such an interaction. Several important methodological differences may have contributed to the differences in findings between the two studies. © 2003 Wiley‐Liss, Inc.
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation
Authors: Nuber Ulrike A. , Tinschert Sigrid , Mundlos Stefan , Hauber Ingrid
Published: February 2004

We report a familial case of dyschromatosis universalis hereditaria (DUH) which is compatible with an autosomal dominant inheritance. The male proband from Bangladesh presented with randomly distributed hyper‐ and hypo‐pigmented skin lesions of variable shape and size with a mottled appearance. Three additional members of the non‐consangineous family are similarly affected. Light and electron microscopy show normal numbers of active melanocytes, but different amounts of fully melanized melanosomes in hyper‐pigmented and hypo‐pigmented macules. Our findings indicate that DUH is not a disorder of number. It appears to be a disorder of melanosome synthesis rate or in addition melanocyte activity. © 2003 Wiley‐Liss, Inc.
Focal caspase activation underlies the endplate myopathy in slow‐channel syndrome
Authors: Vohra Bhupinder P. S. , Groshong Jason S. , Maselli Ricardo A. , Verity M. Anthony , Wollmann Robert L. , Gomez Christopher M.
Published: February 2004

Slow‐channel syndrome (SCS) is a progressive neuromuscular disorder caused by abnormal gating of mutant acetylcholine receptors (AChRs) in the neuromuscular junction (NMJ). The pathological hallmark is selective degeneration of the NMJ termed endplate myopathy. Endplate myopathy consists of a combination of ultrastructural abnormalities, including degenerating subsynaptic nuclei, mitochondria, and postsynaptic folds, caused by localized cation overload through mutant AChRs. Because some of these changes resemble those seen in programmed cell death, we evaluated SCS muscle for evidence of focal activation of apoptotic pathways. Using antisera specific for the activated forms of caspases, the family of cysteine proteases that underlies apoptosis, we demonstrated that active forms of initiator and effector caspases are selectively localized at the NMJ in SCS. In comparison with an electron microscopic assessment of the abnormalities seen in endplate myopathy, we found that activated caspases were present at between 15 and 57% of endplates, similar to the proportion of endplates with degenerating mitochondria or vacuoles. This greatly exceeds the number of NMJs exhibiting nuclear degeneration. These findings provide the first evidence supporting the view that caspase activation in human disease can play a prominent role in localized cellular degenerative processes without causing nuclear or cell death.
Changing incidence of central nervous system diseases in the EuroSIDA cohort
Authors: d'Arminio Monforte Antonella , Cinque Paola , Mocroft Amanda , Goebel Frank‐Detlev , Antunes Francisco , Katlama Christine , Stenz Justesen Ulrik , Vella Stefano , Kirk Ole , Lundgren Jens
Published: February 2004

A drastic decrease in incidence has been observed for most human immunodeficiency virus (HIV)–related opportunistic manifestations after use of highly active antiretroviral therapy (HAART). We assessed the trend of incidence of central nervous system (CNS) diseases in a prospective multicenter observational study involving 9,803 patients across Europe in the period 1994 to 2002 and analyzed patient and treatment variables associated with these conditions. Overall, 568 patients (5.8%) received a diagnosis of a new CNS disease. Incidence decreased significantly from 5.9 per 100 person‐year in 1994 to 0.5 in 2002. Overall, the decrease was 40% per calendar year, and it was similar to that of non‐CNS diseases and less evident after year 1998. In multivariable models, low CD4 cell count and high plasma viral load, but not HAART or calendar year, were significantly associated with risk to develop CNS disease, indicating that the effect of HAART was likely mediated by both improved immunological conditions and inhibition of viral replication. In contrast, use of nucleoside reverse transcriptase inhibitors, irrespective of use of protease inhibitors or non‐nucleoside reverse transcriptase inhibitors, appeared to protect specifically against acquired immunodeficiency disease syndrome dementia complex, suggesting that, in this condition, therapy might have a direct, additive effect in the CNS.
Hormonal regulation of atypical absence seizures
Authors: Persad Vasan , Ting Wong C. Guin , Cortez Miguel A. , Wang Yu Tian , Snead O. Carter
Published: February 2004

A time course study that examined the effects of the female estrous cycle on the chronic slow spike‐and‐wave discharges (SSWDs), γ‐aminobutyric B receptor (GABABR) binding, and GABABR protein expression was conducted in Long Evans hooded rats treated during development with a cholesterol synthesis inhibitor AY9944 (AY). In addition, a pharmacological study using the hormones progesterone, 17 β‐estradiol, mifepristone (intracellular progesterone receptor antagonist), tamoxifen (intracellular estrogen receptor antagonist), and allopregnanolone (progesterone metabolite) was performed to determine their effects on AY‐induced seizures. The data indicate that there is a significant increase in both the duration of SSWD and GABABR binding in the AY model, during the proestrus stage of the estrous cycle, the stage during which the levels of progesterone are at their highest. No changes in GABABR1a or R2 protein levels were observed. In addition, the administration of both progesterone and allopregnanolone exacerbated seizures in the AY model, whereas 17 β‐estradiol attenuated the SSWD duration. Neither mifepristone nor tamoxifen blocked the effects of progesterone and 17 β‐estradiol, respectively, on SSWD duration in the AY model, suggesting that these two sex hormones are working in a manner independent of their intracellular receptors. These data suggest an important role for steroid hormones in the regulation and maintenance of AY‐induced atypical absence seizures.
Circadian rhythm of restless legs syndrome: Relationship with biological markers
Authors: Michaud Martin , Dumont Marie , Selmaoui Brahim , Paquet Jean , Livia Fantini Maria , Montplaisir Jacques
Published: February 2004

Recently, it was suggested that the intensity of restless legs syndrome (RLS) symptoms may be modulated by a circadian factor. The objective of this study was to evaluate, during a 28‐hour modified constant routine, the nycthemeral or circadian variations in subjective leg discomfort and periodic leg movements (PLMs) and to parallel these changes with those of subjective vigilance, core body temperature, and salivary melatonin. Seven patients with primary RLS and seven healthy subjects matched for sex and age entered this study. Although the symptoms were more severe in patients than in controls, a significant circadian variation in leg discomfort and PLM (p < 0.01) was found for both groups. In both groups, the profiles of leg discomfort and PLM were significantly correlated with those of subjective vigilance, core body temperature, and salivary melatonin. However, among these variables, the changes in melatonin secretion were the only ones that preceded the increase in sensory and motor symptoms in RLS patients. This result and those of others studies showing that melatonin exerts an inhibitory effect on central dopamine secretion suggest that melatonin might be implicated in the worsening of RLS symptoms in the evening and during the night.
HIV‐1 inhibits long‐term potentiation and attenuates spatial learning
Authors: Li Sheng‐Tian , Matsushita Masayuki , Moriwaki Akiyoshi , Saheki Yasunori , Lu Yun‐Fei , Tomizawa Kazuhito , Wu Hai‐Yan , Terada Hiroaki , Matsui Hideki
Published: February 2004

Although memory deficits have been clearly documented in patients with human immunodeficiency virus type‐1 (HIV‐1) infection, the physiological basis of this dysfunction is poorly understood. We focused on Tat, a viral protein released from HIV‐1–infected cells and investigated its effect on spatial learning in adult mice. An intracerebroventricular injection of Tat leads to attenuation of spatial learning accompanied by suppression of long‐term potentiation (LTP), the cellular basis of spatial learning, in hippocampal cornu ammonis 1 pyramidal neurons. Tat facilitates extrasynaptic but not synaptic N‐methyl‐D‐aspartate (NMDA) receptor activity. Taken together, these data provide strong evidence that the Tat pathway underlies the development of memory dysfunction in patients with HIV‐1 infection and suggest a causal relationship between Tat, the facilitation of extrasynaptic NMDA receptor activity, inhibition of LTP, and attenuation of spatial learning.
Influence of interhemispheric interactions on motor function in chronic stroke
Authors: Murase Nagako , Duque Julie , Mazzocchio Riccardo , Cohen Leonardo G.
Published: February 2004

In patients with chronic stroke, the primary motor cortex of the intact hemisphere (M1intact hemisphere) may influence functional recovery, possibly through transcallosal effects exerted over M1 in the lesioned hemisphere (M1lesioned hemisphere). Here, we studied interhemispheric inhibition (IHI) between M1intact hemisphere and M1lesioned hemisphere in the process of generation of a voluntary movement by the paretic hand in patients with chronic subcortical stroke and in healthy volunteers. IHI was evaluated in both hands preceding the onset of unilateral voluntary index finger movements (paretic hand in patients, right hand in controls) in a simple reaction time paradigm. IHI at rest and shortly after the Go signal were comparable in patients and controls. Closer to movement onset, IHI targeting the moving index finger turned into facilitation in controls but remained deep in patients, a finding that correlated with poor motor performance. These results document an abnormally high interhemispheric inhibitory drive from M1intact hemisphere to M1lesioned hemisphere in the process of generation of a voluntary movement by the paretic hand. It is conceivable that this abnormality could adversely influence motor recovery in some patients with subcortical stroke, an interpretation consistent with models of interhemispheric competition in motor and sensory systems.
Irradiation attenuates neurogenesis and exacerbates ischemia‐induced deficits
Authors: Raber Jacob , Fan Yang , Matsumori Yasuhiko , Liu Zhengyan , Weinstein Philip R. , Fike John R. , Liu Jialing
Published: February 2004

Increased neurogenesis after cerebral ischemia suggests that functional recovery after stroke may be attributed, in part, to neural regeneration. In this study, we investigated the role of neurogenesis in the behavioral performance of gerbils after cerebral global ischemia. We used ionizing radiation to decrease neural regeneration, and 2 weeks later cerebral global ischemia was induced by bilateral common carotid artery occlusion. One month after the occlusion, the animals were behaviorally tested. Irradiation alone reduced neurogenesis but did not change vascular or dendritic morphology at the time of behavioral testing. Neither did irradiation, ischemia, or combined treatment impair rotor‐rod performance or alter open‐field activity. Gerbils subjected to both irradiation and ischemia demonstrated impaired performance in the water‐maze task, compared with those that received only ischemia, radiation, or no treatment. These impairments after cerebral global ischemia under conditions of reduced neurogenesis support a role for the production of new cells in mediating functional recovery.
Blood transcriptional signatures of multiple sclerosis: Unique gene expression of disease activity
Authors: Achiron Anat , Gurevich Michael , Friedman Nir , Kaminski Naftali , Mandel Mathilda
Published: February 2004

Multiple sclerosis (MS) is a central nervous system disease with an unpredictable course and outcome. Peripheral blood mononuclear cells (PBMCs) are involved in the disease pathogenesis and induce active demyelination. Using oligonucleotide microarrays, we identified a statistically significant transcriptional signature of 1,109 genes in PBMCs from 26 MS patients, irrespective of disease activation state or immunomodulatory treatment. This signature contains genes that implicate underlying processes involved in MS pathogenesis including T‐cell activation and expansion, inflammation, and apoptosis. Another transcriptional signature of 721 genes involved in cellular recruitment, epitope spreading, and escape from regulatory immune surveillance identified MS patients in acute relapse compared with remission. Our results offer new opportunity for understanding the mechanisms involved in MS and indicate that gene expression patterns in PBMCs contain information about a remote‐target disease process that may be useful for diagnosis and future tailoring of therapeutic strategies for MS.
Imaging brain amyloid in Alzheimer's disease with Pittsburgh Compound‐B
Authors: Klunk William E. , Engler Henry , Nordberg Agneta , Wang Yanming , Blomqvist Gunnar , Holt Daniel P. , Bergström Mats , Savitcheva Irina , Huang Guo‐Feng , Estrada Sergio , Ausén Birgitta , Debnath Manik L. , Barletta Julien , Price Julie C. , Sandell Johan , Lopresti Brian J. , Wall Anders , Koivisto Pernilla , Antoni Gunnar , Mathis Chester A. , Långström Bengt
Published: February 2004

This report describes the first human study of a novel amyloid‐imaging positron emission tomography (PET) tracer, termed Pittsburgh Compound‐B (PIB), in 16 patients with diagnosed mild AD and 9 controls. Compared with controls, AD patients typically showed marked retention of PIB in areas of association cortex known to contain large amounts of amyloid deposits in AD. In the AD patient group, PIB retention was increased most prominently in frontal cortex (1.94‐fold, p = 0.0001). Large increases also were observed in parietal (1.71‐fold, p = 0.0002), temporal (1.52‐fold, p = 0.002), and occipital (1.54‐fold, p = 0.002) cortex and the striatum (1.76‐fold, p = 0.0001). PIB retention was equivalent in AD patients and controls in areas known to be relatively unaffected by amyloid deposition (such as subcortical white matter, pons, and cerebellum). Studies in three young (21 years) and six older healthy controls (69.5 ± 11 years) showed low PIB retention in cortical areas and no significant group differences between young and older controls. In cortical areas, PIB retention correlated inversely with cerebral glucose metabolism determined with 18F‐fluorodeoxyglucose. This relationship was most robust in the parietal cortex (r = −0.72; p = 0.0001). The results suggest that PET imaging with the novel tracer, PIB, can provide quantitative information on amyloid deposits in living subjects.
Involvement of medullary serotonergic groups in multiple system atrophy
Authors: Benarroch Eduardo E. , Schmeichel Ann M. , Low Phillip A. , Parisi Joseph E.
Published: February 2004

We sought to determine whether medullary serotonergic neurons were affected in multiple system atrophy (MSA). Immunostaining for tryptophan hydroxylase was performed on serial 50μm sections of the medulla of brains obtained at autopsy from six control subjects, eight subjects with clinical diagnosis of MSA, and four with Parkinson's disease. There was a severe depletion of serotonergic neurons in the nucleus raphe magnus, raphe obscurus, raphe pallidus, and ventrolateral medulla in MSA. Depletion of serotonergic neurons may contribute to impaired control of sympathetic outflow and other abnormalities in MSA. Ann Neurol 2004
CYP2D6 polymorphism, pesticide exposure, and Parkinson's disease
Authors: Elbaz Alexis , Levecque Clotilde , Clavel Jacqueline , Vidal Jean‐Sébastien , Richard Florence , Amouyel Philippe , Alpérovitch Annick , Chartier‐Harlin Marie‐Christine , Tzourio Christophe
Published: February 2004

We performed a case–control study of Parkinson's disease (PD) in a population characterized by a high prevalence of pesticide exposure and studied the joint effect of pesticide exposure and CYP2D6. Although they are based on a small group of subjects with the joint exposure, our findings are consistent with a gene–environment interaction disease model according to which (1) pesticides have a modest effect in subjects who are not CYP2D6 poor metabolizers, (2) pesticides' effect is increased in poor metabolizers (approximately twofold), and (3) poor metabolizers are not at increased PD risk in the absence of pesticide exposure. Ann Neurol 2004
A functional polymorphism regulating dopamine β‐hydroxylase influences against Parkinson's disease
Authors: Healy Daniel G. , Abou‐Sleiman Patrick M. , Ozawa Tetsutaro , Lees Andrew J. , Bhatia Kailash , Ahmadi Kourosh R. , Wullner Ullrich , Berciano Jose , Moller J. Carsten , Kamm Christoph , Burk Katrin , Barrone Paolo , Tolosa Eduardo , Quinn Niall , Goldstein David B. , Wood Nicholas W.
Published: February 2004

A functional −1021C → T polymorphism in the dopamine β‐hydroxylase gene has been demonstrated to regulate plasma DBH activity. We report that individuals with genetically determined low serum DBH activity (genotype T/T) have protection against Parkinson's disease (p = 0.01). In particular, we observed an underrepresentation of the T/T genotype odds ratio = 0.46 (CI = 0.27‐0.8). Rather than identifying a haplotype, or a marker in linkage disequilibrium with the risk variant, this to our knowledge is the first report directly linking PD susceptibility with a proven functional variant. Ann Neurol 2004
Pael‐R is accumulated in Lewy bodies of Parkinson's disease
Authors: Murakami Tetsuro , Shoji Mikio , Imai Yuzuru , Inoue Haruhisa , Kawarabayashi Takeshi , Matsubara Etsuro , Harigaya Yasuo , Sasaki Atsushi , Takahashi Ryosuke , Abe Koji
Published: February 2004

We examined the distribution of Pael‐R, a newly identified substrate for Parkin, in Parkinson's disease (PD) and multiple system atrophy (MSA). Pael‐R, Parkin, α‐synuclein, and ubiquitin accumulated in Lewy bodies (LBs) and neurites. Pael‐R was localized in the core of LBs. Parkin and α‐synuclein accumulated in the halo, neuronal cell bodies, and processes. These findings potentially suggest the involvement of Pael‐R in LB formation, and protection role of Parkin in Pael‐R‐mediated neurotoxicity in PD. The absence of Pael‐R and Parkin in glial cytoplasmic inclusions (GCIs) in MSA implies a distinct pathway involved in the formation of LBs and GCIs. Ann Neurol 2004
Synthese und Eigenschaften allenischer Natur‐ und Wirkstoffe
Authors: Hoffmann‐Röder Anja , Krause Norbert
Published: February 2004

Heute sind etwa 150 Naturstoffe mit Allen‐ oder Cumulen‐Struktur bekannt. Die Chemie dieser Verbindungen hat sich als ein reizvolles und fruchtbares Gebiet erwiesen: Fortschritte in der Isolierung und Charakterisierung neuer allenischer Naturstoffe haben zur Etablierung effizienter Syntheseverfahren geführt, die häufig einen Zugang zu enantiomerenreinen Produkten eröffneten. Wegen der oftmals beeindruckenden biologischen Eigenschaften allenischer Naturstoffe sind Allengruppierungen mittlerweile systematisch in pharmakologisch aktive Verbindungsklassen (Steroide, Prostaglandine, Aminosäuren, Nucleoside) eingebaut worden. Diese funktionalisierten Allene weisen in vielen Fällen interessante Aktivitäten auf, beispielsweise als Mechanismus‐inhärente Enzyminhibitoren, Cytostatika oder antivirale Wirkstoffe. Eine grundlegende Voraussetzung für weitere Entwicklungen auf diesem Gebiet ist die effiziente stereoselektive Synthese von Allenderivaten.
Cover Picture: Pentanuclear Platinum(II) Macrocycles with Nucleobases (Angew. Chem. Int. Ed. 10/2004)
Authors: Rauterkus Michael J. , Krebs Bernt
Published: February 2004

Metallocalixarenes such as the pentanuclear platinum(II) macrocycle shown in the cover picture, are prepared from a cisplatin analogue with tertiary amine ligands and the nucleobase uracil or thymine. The platinum(II) complex used in the synthesis of the macrocycle has a significant cytostatic activity as a result of its ability to bind to DNA. The background shows a crystal of calf thymus DNA. More details can be found in the Communication by M. J. Rauterkus and B. Krebs on page 1300 ff.
Crystallographic report: Bis[bis(N,N‐dibenzyldithiocarbamato)cadmium(II)]
Authors: Yin Xia , Zhang Weiguang , Zhang Qijiao , Fan Jun , Lai Chian Sing , Tiekink Edward R. T.
Published: February 2004

The centrosymmetric structure of {Cd[S2CN(CH2Ph)2]2}2 features both bridging and chelating dithiocarbamate ligands so that a square pyramidal S5 coordination geometry results. Copyright © 2004 John Wiley & Sons, Ltd.
Electrochemically generated tungsten‐based active species as catalysts for metathesis‐related reactions: 2. Ring‐opening metathesis polymerization of norbornene
Authors: Dereli Okan , Düz Bülent , Zümreoǧlu‐Karan Birgül , İmamoǧlu Yavuz
Published: February 2004

The present work reports the application of the WCl6–e−–Al–CH2Cl2 catalyst system to the ring‐opening metathesis polymerization of norbornene. Analysis of the polynorbornene microstructure by means of 1H and 13C NMR spectroscopy indicates that the polymer contains a mainly cis stereoconfiguration of the double bonds (σc = 0.61) and a blocky distribution (rtrc > 1) of cis and trans double bonds (rtrc = 3.37). This catalytic system is reluctant to facilitate the competing addition reactions of cycloalkenes while proceeding with the polymerization reactions with good conversions and at short periods. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: Bis[tri(o‐chlorobenzyl)tin(IV)] piperazinylbisdithiocarbamate
Authors: Yin Handong , Wang Chuanhua
Published: February 2004

The centrosymmetric structure of (o‐C6H4CH2)3SnS2CN(CH2CH2)2NCS2Sn(CH2C6H4‐o)3 features chelating dithiocarbamate ligands, so that a trigonal bipyramidal C3S2 coordination geometry for tin results. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: Bis[tri(o‐chlorobenzyl)tin(IV)] terephthalate
Authors: Yin Handong , Wang Chuanhua , Wang Yong
Published: February 2004

The centrosymmetric structure of (o‐ClC6H4)3SnO2CC6H4CO2Sn(C6H4Cl‐o)3 features an unsymmetrically chelating carboxylate group, so that a distorted trigonal bipyramidal cis‐C3O2 coordination geometry for tin results. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: Bis{µ‐[O‐cyclopentyl(4‐methoxyphenyl)dithiophosphonato]1κ:S,2κ:S‐[O‐cyclopentyl(4‐methoxyphenyl)dithiophosphonato]‐1κ2S,S′}dicadmium(II)
Authors: Karakus Mehmet , Yilmaz Hamza , Ozcan Yusuf , Ide Semra
Published: February 2004

The centrosymmetric title compound, [Cd2{CH3OC6H4P(OC5H9)S2}4], features an eight‐membered [CdSPS]2 ring owing to the presence of bridging dithiolate ligands. Tetrahedral coordination geometries for cadmium are completed by chelating ligands. Copyright © 2004 John Wiley & Sons, Ltd.
Search for triorganotins along the Mar del Plata (Argentina) marine coast: finding of tributyltin in egg capsules of a snail Adelomelon brasiliana (Lamarck, 1822) population showing imposex effects
Authors: Goldberg Raquel N. , Averbuj A. , Cledón M. , Luzzatto D. , Sbarbati Nudelman N.
Published: February 2004

Cases of imposex were clearly identified in Adelomelon brasiliana living in the Mar del Plata (Argentina) coastal area; percentages as high as 50.0% were determined among the samples studied. These were the first reported cases of ocurrence of imposex in this type of gastropod. Since this is one of the known tributyltin (TBTs) effects, and no previous reports of determination of TBTs in gastropods eggs were found, methods were developed for the speciation and quantitative determination of organotins in A. brasiliana egg capsules. Determination of organotins in samples collected in the Mar del Plata area showed contents of tributyltin chloride (TBT) as high as 400 ng l−1 in water and 6.50 µg g−1 in sediments of areas of intensive boat traffic. The results showed the presence of TBT in the egg capsules of A. brasiliana at three different instars (range 0.264–1.86 µg per egg). As far as we know, this is the first report of the finding of TBT in gastropod egg capsules. Copyright © 2004 John Wiley & Sons, Ltd.
Influence of organotin compounds on phosphatidylserine membranes
Authors: Teruel José A. , Ortiz Antonio , Aranda Francisco J.
Published: February 2004

Organotin compounds are widely distributed toxicants. They are membrane‐active molecules with broad biological toxicity. We have studied the interaction of tributyltin and triphenyltin with phosphatidylserine model membranes using differential scanning calorimetry, infrared spectroscopy and X‐ray diffraction techniques. Organotin compounds produced a broadening of the gel to the liquid‐crystalline phase transition of the phospholipid and a shifting of the phase transition temperature to lower values. Infrared spectroscopy experiments showed that tributyltin exerted a fluidizing effect on the apolar part of the bilayer, and that both tributyl‐ and triphenyltin interact with the interfacial region of the bilayer, making the carbonyl groups less accessible to water. As seen by X‐ray diffraction experiments, organotin compounds were unable to change the bilayer macroscopic organization of the phospholipid, but they were able to reduce the long‐range order of the multibilayer system and to disorder the packing of the phospholipid molecules. The observed interaction between organotin compounds and phosphatidylserine membranes promotes physical perturbations that could affect membrane function and may mediate some of their toxic effects. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: 1,3,5,7‐Tetraisopropyl‐2,4,6,8,9,10‐hexathia‐1,3,5,7‐tetrastanna‐adamantane
Authors: Wagner C. , Raschke C. , Merzweiler K.
Published: February 2004

The crystal structure of iPr4Sn4S6 consists of isolated molecules that contain an adamantane‐like Sn4S6 core. The tin atoms are coordinated nearly tetrahedrally, with Sn–S distances ranging from 2.397(1) to 2.411(1) Å. Copyright © 2004 John Wiley & Sons, Ltd.
Lateral connectivity of a fragmented large river system: assessment on a macroscale by dragonfly surveys (Insecta: Odonata)
Authors: Chovanec Andreas , Waringer Johann , Raab Rainer , Laister Gerold
Published: February 2004

The ecological status of floodplain areas along the Austrian section of the Danube was assessed by an approach based on dragonfly surveys. Although this river section contains a relatively high portion of the river‐type‐specific alluvial floodplain areas, most of them are influenced by river regulation and damming.

A key element of the assessment procedure, which is oriented towards the new EC Water Framework Directive, is the Odonate Habitat Index.

Classification of ecological status is based on the comparison between the status quo and reference conditions derived from a historical situation minimally influenced by human activities.

Data from 408 sites from 14 investigation areas were used. Ten of the 14 areas were ranked in class II (‘good ecological status’) within the five‐tiered system, which is the level of ecological status targeted in the directive. One area corresponds to the reference condition (class I, ‘high ecological status’), and three areas do not meet the quality objective (class III, ‘moderate ecological status’). A total of 49 species were found along the whole section, which represents 82% of the river‐type‐specific reference list.

Copyright © 2003 John Wiley & Sons, Ltd.
Colonization and use of pine wood versus native wood in New Zealand plantation forest streams: implications for riparian management
Authors: Collier K. J. , Smith B. J. , Halliday N. J.
Published: February 2004

Riparian management is becomingly increasingly recognized as an important tool for reducing harvesting impacts on plantation forest streams. To provide information for a riparian management decision support system, this study investigated effects of riparian tree type (plantation Pinus radiata D. Don versus four native species) on the development of epixylic biofilms, and colonization and feeding by invertebrates on wood at two contrasting stream sites in the central North Island, New Zealand.

Electron micrographs revealed a diverse microflora colonizing all wood types, which generally had similar ergosterol concentrations, microbial activity and algal biomass after 1–2 years immersion.

Wood type (pine versus native) did not have a significant effect on densities of total invertebrates or dominant taxa. Percentage abundance of some dominant invertebrate groups differed between wood species, apparently in relation to surface complexity, but overall physical habitat differences appeared to override any effects of wood type on community composition.

The mass of fine particulate material produced by larvae of the conoesucid caddis fly, Pycnocentria funerea McLachlan, differed significantly among wood species, but this was not related to whether the wood was from native trees or plantation pine.

Overall, the results indicate that local variations in habitat heterogeneity and differences in wood surface texture were more important than wood type in influencing epixylic biofilm development, and utilization by invertebrates. Alien pine wood generally provided habitat conditions and trophic resources during initial decomposition that were within the range of variation of native wood species expected to colonize riparian planting set‐backs in northern New Zealand pine forests.

Copyright © 2004 John Wiley & Sons, Ltd.
Dusky dolphin foraging habitat: overlap with aquaculture in New Zealand
Authors: Markowitz Tim M. , Harlin April D. , Würsig Bernd , McFadden Cynthia J.
Published: February 2004

Marine farms have the potential to affect dolphin foraging in the coastal environment, yet this issue has been largely omitted from aquaculture management models. Data on the subject are minimal. This study was conducted to examine potential overlap between dusky dolphin habitat use and New Zealand's growing green‐lipped mussel farming industry.

Data on dusky dolphin occurrence, distribution, abundance, and behaviour were collected from small vessels over five successive winters in the Marlborough Sounds, the centre of New Zealand's mussel farming industry.

Locations and movements of dolphin groups were recorded at 2 min intervals with a global positioning system receiver to examine the overlap of dusky dolphin use of coastal areas with existing and proposed marine farms. All cases of dolphins entering the boundaries of mussel farms and total time spent in farms were recorded. Over 8500 dolphin dorsal fin photographs were analysed to develop a catalogue of 421 marked individuals utilizing the area. All instances of dolphin feeding were noted, and focal group behaviour was recorded at 2 min intervals for groups observed ⩾1 h.

Within the Marlborough Sounds, dusky dolphins were most often encountered during the winter in Admiralty Bay, the area with the greatest density of proposed farming activity in the region. Mark‐recapture data indicate that more than 1000 dusky dolphins used Admiralty Bay over the course of the 5 year study, with an average of 220 individuals inhabiting the bay on any given week during the winters of 1998–2002. As many as 55% of individuals returned to Admiralty Bay in consecutive winters.

Overlap of dusky dolphin habitat use with proposed marine farms is high, and dolphins rarely used areas within the existing farms. If dusky dolphin distribution with respect to farms were random, an expected 18plusmn1;0.5 of 436 groups would be encountered in existing inner Admiralty Bay farms; however, no dolphin groups were first encountered in farms.

In 5 years, only eight of 621 dusky dolphin groups monitored in Admiralty Bay were observed to enter the boundaries of mussel farms at any point. Dolphins entering mussel farms moved rapidly up the lanes between rows of lines and floats. Dolphins were observed a total of 14.2 min inside farms versus 147.5 h outside of farms in Admiralty Bay. Correcting for area, dolphins were observed spending significantly less time per survey inside than outside of farms.

Most dusky dolphin groups in Admiralty Bay were observed feeding on small schooling fish, often associated with seabirds and/or fur seals. Movement and diving patterns indicate much foraging when not actively feeding.

Regular seasonal migration of dusky dolphins and frequent feeding associations with other apex predators make management of marine farming a wider socio‐economic and ecological issue.

Copyright © 2004 John Wiley & Sons, Ltd.
On the limnology of Salda Lake, a large and deep soda lake in southwestern Turkey: future management proposals
Authors: Kazanci Nilgün , Girgin Sönmez , Dügel Muzaffer
Published: February 2004

The limnological characteristics of Salda Lake, a deep, soda and highly alkaline lake in the Lake District of southwestern Turkey, are presented.

Physical and chemical variables indicate that the lake is composed of hydrochemically different water layers formed by groundwater sources located on the floor of the lake.

Phytoplankton and zooplankton are characterized by a limited number of species and low dominance reflecting the extreme conditions of the lake.

Hydromagnesite stromatolites occur all around the lake margins.

The lake is threatened by falling water levels and organic pollution. Recommendations for the conservation of the lake are presented.

Copyright © 2004 John Wiley & Sons, Ltd.
Prevalence of craniorachischisis in a Texas–Mexico border population
Authors: Johnson Kelly M.K. , Suarez Lucina , Felkner Marilyn M. , Hendricks Kate
Published: February 2004

BACKGROUND

The most severe neural tube defect (NTD), craniorachischisis, is characterized by anencephaly confluent with spina bifida open from the cervical to the lumbar region. We describe the prevalence of craniorachischisis among the Texas–Mexico border population during the period 1993–1999.

METHODS

An active surveillance system identified all clinically apparent NTD‐affected fetuses and infants born to mothers residing and delivering in any of the 14 Texas–Mexico border counties. Craniorachischisis cases included live‐born, stillborn, and therapeutic abortions.

RESULTS

A total of 16 craniorachischisis cases were identified for a total prevalence of 0.51 per 10,000 live births (Mexican American prevalence, 0.52 per 10,000) and a prevalence of 0.28 per 10,000 live births for cases of 20 weeks gestation or greater.

CONCLUSIONS

The prevalence of craniorachischisis was higher than that reported in Atlanta (0.1 per 10,000 live births), but much lower than that reported in Northern China (10.7 per 10,000 births). In this high NTD prevalence region, it is possible that a multiplicity of risk factors, mostly related to poverty, contribute to a high prevalence of craniorachischisis. Birth Defects Research (Part A) 67:000–000, 2003. © 2003 Wiley‐Liss, Inc.