bluuebunny/crossref_metadata_2025_split huggingface dataset:
Free immunoglobulin light‐chain serum levels in the follow‐up of patients with monoclonal gammopathies: Correlation with 24‐hr urinary light‐chain excretion
Authors: Alyanakian Marie‐Alexandra , Abbas Aïcha , Delarue Richard , Arnulf Bertrand , Aucouturier Pierre 
Published: March 2004

AbstractIn patients with light‐chain myeloma or primary AL‐amyloidosis, 24‐hr light‐chain excretion in the urine is considered an essential marker of the tumor mass. However, 24‐hr urine collection and analysis may be cumbersome and prone to inaccuracy. Recently, a sensitive immunonephelometric assay for immunoglobulin free light chains (FLC) in the serum was developed. We sought to determine whether the serum level of monoclonal FLC could be used as an indicator of urinary excretion and disease evolution. Seven patients with light‐chain myeloma and AL‐amyloidosis were studied, all of which had a monoclonal FLC that could be detected in the urine using standard methods. In four of these patients, follow‐up revealed a remarkable correlation between FLC serum levels and daily urinary excretions. The ratio of serum level to urinary light‐chain excretion, although stable in a given patient, was extremely variable between patients. In the three remaining cases featuring hardly measurable amounts of light chain in the urine, the serum FLC assay proved sensitive enough for correlation with clinical events. Thus, immunonephelometric measurement of serum FLCs is a reliable method for the follow‐up of patients with light‐chain secreting monoclonal gammopathies. Am. J. Hematol. 75:246–248, 2004. © 2004 Wiley‐Liss, Inc.
Pappenheimer bodies: A brief historical review
Authors: Sears David A. , Udden Mark M. 
Published: March 2004

AbstractPappenheimer is credited with describing the intraerythrocytic collections of iron, or siderotic granules, as they appear on Wright‐stained blood smears of certain patients after splenectomy. The history of their description and elucidation of their origin and disposition shows the interaction of morphology with the increasing understanding of red cell physiology in the mid‐twentieth century. Am. J. Hematol. 75:249–250, 2004. © 2004 Wiley‐Liss, Inc.
Unrelated peripheral blood and cord blood hematopoietic stem cell transplants for thalassemia major
Authors: Tan Patrick Huat‐Chye , Hwang William Ying Khee , Goh Yeow Tee , Tan Poh Lin , Koh Liang Piu , Tan Cheng Hoe , Quah Thuan Chong 
Published: March 2004

AbstractAllogeneic hematopoietic stem cell transplantation is currently the only curative treatment available for thalassemia major. While sibling donors are usually used, unrelated bone marrow transplants have also recently been found to be successful. In this report of two patients, we show that, besides using unrelated bone marrow, peripheral blood stem cell and cord blood transplantations from unrelated donors are viable options. We believe a significant contributory factor in both our cases was the large cell dose used. Am. J. Hematol. 75:209–212, 2004. © 2004 Wiley‐Liss, Inc.
Nodular regenerative hyperplasia of the liver: An under‐recognized cause of portal hypertension in hematological disorders
Authors: Al‐Mukhaizeem Khalid A. , Rosenberg Arthur , Sherker Averell H. 
Published: March 2004

AbstractPortal hypertension has been described in a wide variety of hematological disorders, especially myeloproliferative and lymphoproliferative disorders. Its clinical manifestations may include bleeding esophageal varices, ascites, or hepatic encephalopathy. In patients with hematological disorders, there are a number of potential causes of portal hypertension, including nodular regenerative hyperplasia of the liver (NRH). This lesion is characterized by diffuse replacement of normal hepatic parenchyma by multiple small nodules composed of regenerating hepatocytes with minimal or no fibrosis. This lack of fibrosis distinguishes NRH from cirrhosis. Unlike cirrhosis, NRH only rarely results in compromised hepatic synthetic function. The major manifestation is portal hypertension related to increased resistance to blood flow within hepatic sinusoids. NRH has been linked to a variety of systemic diseases including collagen vascular diseases, myeloproliferative and lymphoproliferative disorders, as well as various medications. Although NRH is commonly associated with blood dyscrasias, the diagnosis is overlooked because of the complexity and wide differential diagnosis of liver diseases in the setting of hematological malignancy. We review herein nodular regenerative hyperplasia of the liver, including aspects of epidemiology, pathogenesis, differential diagnosis, clinical course, and treatment. We highlight its association with different forms of hematological disease, aiming to increase the awareness of this entity to the internist and the treating hematologist/oncologist. Am. J. Hematol. 75:225–230, 2004. © 2004 Wiley‐Liss, Inc.
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
Authors: Feldmann Delphine , Denoyelle Françoise , Chauvin Pierre , Garabédian Eréa‐Noël , Couderc Rémy , Odent Sylvie , Joannard Alain , Schmerber Sébastien , Delobel Bruno , Leman Jacques , Journel Hubert , Catros Hélène , Maréchal Cédric Le , Dollfus Hélène , Eliot Marie‐Madeleine , Delaunoy Jean‐Pierre , David Albert , Calais Catherine , Drouin‐Garraud Valérie , Obstoy Marie‐Françoise , Bouccara Didier , Sterkers Olivier , Huy Patrice Tran Ba , Goizet Cyril , Duriez Françoise , Fellmann Florence , Hélias Jocelyne , Vigneron Jacqueline , Montaut Bétina , Lewin Patricia , Petit Christine , Marlin Sandrine 
Published: March 2004

AbstractRecent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1. 32% of the patients had biallelic GJB2 mutations and 6% were a heterozygous for a GJB2 mutation and a GJB6 deletion. Biallelic GJB2 mutations and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children. Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss. © 2004 Wiley‐Liss, Inc.
Two sibs with fibrochondrogenesis
Authors: Leeners Brigitte , Funk Andreas , Cotarelo Christina L. , Sauer Itta 
Published: March 2004

AbstractFibrochondrogenesis is one of the rare lethal osteochondrodysplasias, which show abnormal maturation, and disturbed growth of cartilage and bones. These disorders are a heterogenous group of genetic disorders with a total incidence of 1–3 in 10,000 births. Only 13 cases of fibrochondrogenesis have been published since Lazzaroni‐Fossati et al. [1978] first described the disorder. We report on two sibs that occurred in a consanguineous couple and discuss the ultrasonographic, clinical, radiological, and pathological characteristics of this disorder. This occurrence confirms autosomal recessive inheritance of fibrochondrogenesis. © 2004 Wiley‐Liss, Inc.
Discordant phenotypes in first cousins with UBE3A frameshift mutation
Authors: Molfetta G.A. , Muñoz M.V.R. , Santos A.C. , Silva W.A. , Wagstaff J. , Pina‐Neto J.M. 
Published: March 2004

AbstractMutations have been found in the UBE3A gene (E6‐AP ubiquitin protein ligase gene) in many Angelman syndrome (AS) patients with no deletion, no uniparental disomy, and no imprinting defect. UBE3A mutations are more frequent in familial than in sporadic patients and the mutations described so far seem to cause similar phenotypes in the familial affected cases. Here we describe two first cousins who have inherited the same UBE3A frameshift mutation (duplication of GAGG in exon 10) from their asymptomatic mothers but present discordant phenotypes. The proband shows typical AS features. Her affected cousin shows a more severe phenotype, with asymmetric spasticity that led originally to a diagnosis of cerebral palsy. Proband's brain MRI shows mild cerebral atrophy while her cousin's brain MRI shows severe brain malformation. This family demonstrates that, although brain malformation is unusual in AS, presence of a brain malformation does not exclude the diagnosis of AS. Also, this UBE3A mutation was transmitted from the cousin's grandfather to only two sisters among eight full siblings, raising the hypothesis of mosaicism for this mutation. © 2004 Wiley‐Liss, Inc.
Risk of sudden death in the Williams–Beuren syndrome
Authors: Wessel Armin , Gravenhorst Verena , Buchhorn Reiner , Gosch Angela , Partsch Carl‐Joachim , Pankau Rainer 
Published: March 2004

AbstractWilliams–Beuren syndrome (WBS) is a genetic disorder characterized by a distinctive facial gestalt, mental retardation, mild growth deficiency, and cardiovascular disease. The occurrence of sudden death in the WBS is known from several case reports, but information about the risk of sudden death as derived from the data of a large cohort of patients is lacking. We analyzed the data of 293 WBS patients who had been treated for 43 years at the same two institutions. We thus collected 5,190 patient years without loss to follow‐up. During this period ten patients died. Five of them died from: reticulosarcoma (1), after accident (1), heart failure (1), following heart surgery (2). Of the remaining five patients, four died suddenly and one died of unknown cause suggestive of sudden cardiac death. Thus, the incidence of sudden death in our WBS cohort amounts to 1/1,000 patient years. This risk of sudden death is comparable to that following surgery for congenital heart disease, and is 25–100‐fold higher compared to the age‐matched normal population. © 2004 Wiley‐Liss, Inc.
Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome
Authors: Sztriha László , Guerrini Renzo , Harding Brian , Stewart Fiona , Chelloug Nora , Johansen Johan G. 
Published: March 2004

AbstractPolymicrogyria is a brain malformation due to abnormal cortical organization. Two histological types, unlayered or four‐layered can be distinguished. Polymicrogyria is a rare manifestation of chromosome 22q11 deletion syndrome. We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with FISH, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four‐layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed. © 2004 Wiley‐Liss, Inc.
Twenty‐four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms tumor development
Authors: Royer‐Pokora Brigitte , Beier Manfred , Henzler Markus , Alam Rita , Schumacher Valérie , Weirich Angela , Huff Vicki 
Published: March 2004

AbstractWe report here 24 new Wilms tumor (WT) patients with germline WT1 alterations and a synopsis of our own previously described and literature cases in whom age of tumor‐onset, gender, and laterality were known. This combined database contains 282 patients, 117 patients with and 165 without WT1 germline alterations. Using this information we have determined the median age of tumor‐onset for patients with (12.5 months) and without WT1 gene alterations (36 months). The earliest onset was in patients with truncation (12 mo, 66 patients), followed by missense mutations (18 mo, 30 patients) and deletions (22 mo, 21 patients). Patients with the two most frequent nonsense mutations R362X and R390X and the Denys–Drash syndrome (DDS) hot spot mutation R394W/Q/L had a very early onset (9, 12, and 18 mo, respectively). The highest number of bilateral tumors was observed in the group of truncation mutations, with a higher percentage of bilateral tumors when truncations occurred in the 5′ half of the WT1 gene. In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal‐predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation. © 2004 Wiley‐Liss, Inc.
Marfanoid habitus with abnormal situs
Authors: Kosaki Kenjiro , Bird Lynne M. , Maeda Jun , Higuchi Masataka , Jones Marilyn C. , Matsumoto Morio 
Published: March 2004

AbstractMarfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to defective left–right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome. © 2004 Wiley‐Liss, Inc.
Valproate therapy and nonalcoholic fatty liver disease
Authors: Luef Gerhard J. , Waldmann Markus , Sturm Wolfgang , Naser Anis , Trinka Eugen , Unterberger Iris , Bauer Gerhard , Lechleitner Monika 
Published: March 2004

AbstractNonalcoholic fatty liver disease was defined recently as another symptom of insulin resistance. Continuous therapy with valproate can result in increased body weight and insulin resistance, but no data are yet available on a possible relationship between valproate and nonalcoholic fatty liver disease. We here demonstrate in abdominal ultrasound investigations that characteristics of fatty liver disease were present in 61% of valproate‐treated patients as compared with 23% receiving carbamazepine therapy. Ann Neurol 2004
Crystallographic report: Bi(S2CNC5H10)2(NO3)(1,10‐phenanthroline)
Authors: Yin Handong , Wang Chuanhua 
Published: March 2004

AbstractThe structure of Bi(S2CNC5H10)2(NO3)(1,10‐Phen) features an eight‐coordinated distorted square antiprismatic geometry around bismuth, defined by an N2O2S4 donor set, with BiS distances ranging from 2.641(2) to 2.824(2) Å. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: Bis[bis(N‐methyl‐N‐phenyldithiocarbamato)‐(methylxanthato)bismuth(III)]
Authors: Yin Han‐Dong , Wang Chuan‐Hua , Wang Yong 
Published: March 2004

AbstractThe centrosymmetric structure of {Bi[S2CN(Me)Ph]2(S2COMe)}2 features chelating dithiocarbamate and xanthate ligands, as well as intermolecular Bi·S interactions, so that a distorted pentagonal bipyramidal S7 coordination geometry results. Copyright © 2004 John Wiley & Sons, Ltd.
Synthesis, characterization, X‐ray crystal structure and in vitro antitumour activity of sodium bis(2‐(3′,6′,9′‐trioxadecyl)‐1,2‐dicarba‐closo‐dodecaborane‐1‐carboxylato)triphenylstannate
Authors: Bregadze V. I. , Glazun S. A. , Petrovskii P. V. , Starikova Z. A. , Buyanovskaya A. G. , Takazova R. U. , Gielen M. , de Vos D. , Kemmer M. , Biesemans M. , Willem R. 
Published: March 2004

AbstractSodium bis[2‐(3′,6′,9′‐trioxadecyl)‐1,2‐dicarba‐closo‐dodecaborane‐1‐carboxylato]triphenylstannate, [(CH3OCH2CH2OCH2CH2OCH2CH2)‐1,2‐C2B10H10‐9‐COO)2SnPh3]− Na+, compound 1, was synthesized by the 1:1 condensation of triphenyltin(IV) hydroxide with 2‐(3′,6′,9′‐trioxadecyl)‐1,2‐dicarba‐closo‐dodecaborane‐1‐carboxylic acid and crystallized in the presence of sodium bicarbonate. Its structure was determined by spectroscopy, elemental analysis and X‐ray diffraction. The structure of 1 consists of trigonal bipyramidal [Sn(Ph)3(L)2]− anions and Na+ cations coordinated by oxygen atoms of polyoxaalkyl chains of different stannate anions, forming cation–anion chains elongated along the c axis. Compound 1 is significantly more active in vitro against seven tumour cell lines of human origin than 5‐fluorouracil, cis‐platin, carboplatin, and previously reported organotin carboranecarboxylates, but is less active than organotin polyoxaalkylcarboxylates. Copyright © 2004 John Wiley & Sons, Ltd.
Crystallographic report: 2‐Furfurylgermatrane
Authors: Lukevics Edmunds , Ignatovich Luba , Belyakov Sergey 
Published: March 2004

AbstractThe germanium atom is penta‐coordinated and adopts a trigonal bipyramidal geometry. The 2‐furfuryl group and the nitrogen atom each occupy an apical position with a transannular N→Ge bond distance of 2.173(3) Å. Copyright © 2004 John Wiley & Sons, Ltd.
Speciation of essential and toxic elements in edible mushrooms: size‐exclusion chromatography separation with on‐line UV–inductively coupled plasma mass spectrometry detection
Authors: Wuilloud Rodolfo G. , Kannamkumarath Sasi S. , Caruso Joseph A. 
Published: March 2004

AbstractSize‐exclusion liquid chromatography was coupled to UV and inductively coupled plasma mass spectrometry (ICP‐MS) for detection to perform elemental speciation studies on different edible mushrooms. Molecular weight (MW) distribution patterns of several elements among different fractions present in various edible mushrooms are presented. The association of the elements with the high and low MW fractions was observed using sequential detection by UV and ICP‐MS. Separation was performed using a Superdex 75 column. Variability of the fractionation patterns with three different extraction media (0.05 mol l−1 NaOH; 0.05 mol l−1 HCl; hot water at 60°C) was evaluated for mushroom species. A comparative elemental speciation study was performed in order to determine the differences in the fractionation patterns of silver, arsenic, cadmium, mercury, lead, and tin in Boletus edulis, Agaricus bisporus, and Lentinus edodes. Differences in the fractionation patterns of the elements were found to depend on the mushroom species and the extraction medium. Most of the elements were associated with high mw fractions. It was not possible to assess the trace metal contributions from the mushroom growth media. Copyright © 2004 John Wiley & Sons, Ltd.
Alloyed transition‐metal complexes of tricyanomethide (tcm), [Mn1−xCox(tcm)2]
Authors: Sayaduzzaman Mohammad , Katsuhara Mao , Hoshino Hirotada , Kawamoto Tadashi , Mori Takehiko 
Published: March 2004

AbstractAlloying in the coordination polymer [Mn1−xCox(tcm)2], (tcm = [C(CN)3]−) has been attempted and the physical properties have been investigated. All compounds are isostructural, but the lattice parameters and the distance between manganese and the adjacent nitrogen atom decrease with increasing cobalt content x. Magnetic susceptibility measurements show a Curie–Weiss behavior, with decreasing Weiss temperature with increasing cobalt content. Copyright © 2004 John Wiley & Sons, Ltd.
Synthesis, characterization, and antimicrobial activity of cobalt(II), nickel(II), copper(II) and zinc(II) complexes with ferrocenyl Schiff bases containing a phenol moiety
Authors: Abd‐Elzaher Mokhles M. 
Published: March 2004

AbstractThree ferrocenyl Schiff bases containing a phenol moiety have been formed by 1:1 molar condensation of acetylferrocene with 2‐aminophenol, 2‐amino‐5‐picoline or 2‐amino‐5‐chlorophenol. These ligands form 2:1 complexs with cobalt(II), copper(II), nickel(II), and zinc(II) ions. From the different spectral data, it was found that coordination of the ligands with the metal ions takes place via the azomethine nitrogen atoms and the deprotonated oxygen of the phenol groups. These ligands and their complexes have been characterized by IR, 1H NMR, 13C NMR, UV–Vis spectra, and elemental analysis. The spectral data of the ligands and their complexes are discussed in connection with the structural changes due to complexation. The complexes prepared showed good antimicrobial activity against Escherichia coli, Bacillus subtilus, and Candida albicans. Copyright © 2004 John Wiley & Sons, Ltd.
Preparation of porous poly(D,L‐lactide) and poly(D,L‐lactide‐co‐glycolide) membranes by a phase inversion process and investigation of their morphological changes as cell culture scaffolds
Authors: Kim So Yeon , Kanamori Toshiyuki , Noumi Yoshiko , Wang Pi‐Chao , Shinbo Toshio 
Published: March 2004

AbstractPorous membranes composed of the biodegradable polyesters poly(D,L‐lactide) (PLA) and poly(D,L‐lactide‐co‐glycolide) (PLGA) were prepared by a phase inversion process. The molecular weights of the polymers and the concentrations of the polymer solutions affected the pore size and structure of the PLA and PLGA membranes. The molecular weights and morphological changes of the membranes as a function of time were investigated under incubation at 37°C in a humidified 5% CO2 atmosphere. The pores that formed in the membranes changed dramatically with increasing time under these conditions. From the thermal characterization of the polymers in their dry and wet states, we found that the glass‐transition temperatures of PLA and PLGA affected morphological structure changes in the porous membranes. We also prepared a collagen‐coated membrane to improve the interaction between the cell and the substrate, and we observed that the collagen coating enhanced the attachment and growth of Chinese hamster ovary cells on the substrate. Finally, we found that only PLA was a suitable material to prepare a porous membrane scaffold with the phase inversion process with PLA, and a collagen coating was necessary for cell culture on the membrane. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 2082–2092, 2004
Alkali–methanol–anthraquinone pulping of Miscanthus x giganteus for thermoplastic composite reinforcement
Authors: Lundquist L. , Arpin G. , Leterrier Y. , Berthold F. , Lindström M. , Månson J.‐A. E. 
Published: March 2004

AbstractThe potential of pulp fiber–reinforced thermoplastics is currently not fully explored in composites. One of the main reasons is that pulp fibers are extracted for the use in papermaking and are thus not optimized for use as reinforcements in thermoplastics. Furthermore, currently used processing methods constitute several severe thermomechanical steps inducing premature degradation of the fibers. A systematic development of these composite materials requires the study of both these aspects. The goal of this work was to optimize fiber extraction against properties relevant to the reinforcement of thermoplastics. To this end, thick‐walled Miscanthus x giganteus pulp fibers were selected. The fibers were pulped by the alkaline–methanol–anthraquinone process. An unreplicated factorial design was applied to determine the effect of key operating variables on fiber thermal stability and mechanical properties. The thermomechanical properties of pulp fibers depend primarily on the morphology and chemical composition of the fiber resource in terms of the respective amounts of lignin, hemicellulose, and cellulose, all strongly influenced by the choice of pulping conditions. Optimal pulping parameters were identified, allowing production of fibers thermally stable up to 255°C with an aspect ratio of 40, a straightness of 95%, and tensile strength as high as 890 MPa. Specific stiffness and strength values with respect to density and material cost of 56 GPa m−3 $−1 and 820 MPa m−3 $−1 were highly competitive with glass fibers, with corresponding values of 15 GPa m−3$−1 and 270–490 MPa m−3 $−1, respectively. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 2132–2143, 2004