bluuebunny/crossref_metadata_2025_split huggingface dataset:
Selective T-cell ablation with bismuth-213–labeled anti-TCRαβ as nonmyeloablative conditioning for allogeneic canine marrow transplantation
Authors: Bethge Wolfgang A. , Wilbur D. Scott , Storb Rainer , Hamlin Donald K. , Santos Erlinda B. , Brechbiel Martin W. , Fisher Darrell R. , Sandmaier Brenda M. 
Published: March 2003

AbstractTwo major immunologic barriers, the host-versus-graft (HVG) and graft-versus-host (GVH) reactions, have to be overcome for successful allogeneic hematopoietic cell transplantation. T cells were shown to be primarily involved in these barriers in the major histocompatibility complex identical setting. We hypothesized that selective ablation of T cells using radioimmunotherapy together with postgrafting immunosuppression would suffice to ensure stable allogeneic engraftment. We had described a canine model of nonmyeloablative marrow transplantation in which host immune reactions were impaired by a single dose of 200 cGy total body irradiation (TBI), and both GVH and residual HVG reactions were controlled by postgrafting immunosuppression with mycophenolate mofetil (MMF) and cyclosporine (CSP). Here, we substituted the α-emitter bismuth-213 (213Bi) linked to a monoclonal antibody (mAb) against T-cell receptor (TCR) αβ, using the metal-binding chelate diethylenetriaminepentaacetic acid (DTPA) derivative cyclohexyl–(CHX)-A″, for 200 cGy TBI. Biodistribution studies using a γ-emitting indium-111–labeled anti-TCRαβ mAb showed uptake primarily in blood, marrow, lymph nodes, spleen, and liver. Four dogs were treated with 0.13 to 0.46 mg/kg TCRαβ mAb labeled with 3.7 to 5.6 mCi/kg (137-207 MBq/kg) 213Bi. The treatment was administered in 6 injections on days –3 and –2 followed by transplantation of dog leukocyte antigen-identical marrow on day 0 and postgrafting immunosuppression with MMF/CSP. The therapy was well tolerated except for elevations of transaminases that were transient in all but one of the dogs. No other organ toxicities or signs of graft-versus-host disease were noted. The dogs had prompt allogeneic hematopoietic engraftment and achieved stable mixed donor-host hematopoietic chimerism with donor contributions ranging from 5% to 55% after more than 30 weeks of follow up.
Pharmaceutical ethnobotany in the Montseny biosphere reserve (Catalonia, Iberian Peninsula). General results and new or rarely reported medicinal plants
Authors: Bonet M Àngels , Vallès Joan 
Published: March 2003

Abstract
An ethnobotanical survey was carried out in the massif of Montseny, which is situated in north-east Catalonia (Iberian Peninsula), covers 826 km2 and has a population of 80 000. From 1993 to 2000 we interviewed 180 people and collected ethnobotanical information about 351 medicinal plants, with 4023 use-reports. Through comparison with a large set of studies, we detected 501 unreported or uncommon uses that corresponded to 201 plant species, 57 of which had never or very rarely been cited as medicinal or toxic. General results and key findings on the plant ethnopharmacology (number of medicinal plants, modes of consumption, types of illnesses treated) of this area are presented here, together with information on new or rarely reported medicinal plants.
Inhibition of TPA-induced NF-κB nuclear translocation and production of NO and PGE2 by the anti-rheumatic gold compounds
Authors: Yamashita Masamichi , Ashino Shigeru , Oshima Yuko , Kawamura Shunsuke , Ohuchi Kazuo , Takayanagi Motoaki 
Published: March 2003

Abstract
Auranofin, aurothioglucose and aurothiomalate (10 μM each) inhibited 12-O-tetradecanoylphorbol 13-acetate (TPA, 16.2 nM)-induced nuclear translocation of nuclear factor-kappa B (NF-κB), and production of nitric oxide (NO) and prostaglandin E2 (PGE2) in rat peritoneal macrophages when the cells were pre-incubated with each gold compound for 20h. Without pre-incubation for 20h, aurothioglucose and aurothiomalate, but not auranofin, failed to inhibit the TPA-induced NF-κB nuclear translocation and production of NO and PGE2. Auranofin, aurothioglucose and aurothiomalate did not affect the direct binding of NF-κB to the DNA probe. It was suggested that these gold compounds inhibit the TPA-induced production of NO and PGE2 by inhibiting the NF-κB nuclear translocation.
Structure-activity relationship determination within a group of substituted phenyl sulfamate based compounds against the enzyme oestrone sulfatase
Authors: Patel Chirag K , Galisson Angelique , James Karen , Owen Caroline P , Ahmed Sabbir 
Published: March 2003

Abstract
The enzyme oestrone sulfatase (ES) is responsible for the conversion of the stored (sulfated) form of oestrogens to the active form, namely oestrone. In our continuing quest to synthesize potent inhibitors of oestrone sulfatase and to determine the structural requirements for such inhibition, we have synthesized and evaluated several derivatives of phenyl sulfamate. We report the results of the synthesis and biochemical evaluation of a series of 3- and 4-aminosulfonated derivatives of phenol in an effort to investigate the role of the acid dissociation constant (pKa), and therefore the stability of the phenoxide ion, on the inhibitory activity of compounds against this enzyme. The results showed that there was a strong correlation between the observed pKa and inhibitory activity within the aminosulfonated compounds considered. This suggested that in the inhibition of oestrone sulfatase by these compounds, pKa was an important physicochemical property, and as such, the stability of the O− ion was a crucial factor in the inhibition, and therefore the drug design process.
Experimental optimization of a direct injection homogeneous charge compression ignition gasoline engine using split injections with fully automated microgenetic algorithms
Authors: Canakci M , Reitz R D 
Published: February 2003

Homogeneous charge compression ignition (HCCI) is receiving attention as a new low-emission engine concept. Little is known about the optimal operating conditions for this engine operation mode. Combustion under homogeneous, low equivalence ratio conditions results in modest temperature combustion products, containing very low concentrations of NOx and particulate matter (PM) as well as providing high thermal efficiency. However, this combustion mode can produce higher HC and CO emissions than those of conventional engines. An electronically controlled Caterpillar single-cylinder oil test engine (SCOTE), originally designed for heavy-duty diesel applications, was converted to an HCCI direct injection (DI) gasoline engine. The engine features an electronically controlled low-pressure direct injection gasoline (DI-G) injector with a 60° spray angle that is capable of multiple injections. The use of double injection was explored for emission control and the engine was optimized using fully automated experiments and a microgenetic algorithm optimization code. The variables changed during the optimization include the intake air temperature, start of injection timing and the split injection parameters (per cent mass of fuel in each injection, dwell between the pulses). The engine performance and emissions were determined at 700 r/min with a constant fuel flowrate at 10 MPa fuel injection pressure. The results show that significant emissions reductions are possible with the use of optimal injection strategies.
Syndromic form of X‐linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22
Authors: Turner Gillian , Gedeon Agi , Kerr Bronwyn , Bennett Rachael , Mulley John , Partington Michael 
Published: February 2003

AbstractAn X‐linked recessive syndromic form of mental retardation is described in a family in which 10 males in four generations were affected. The main manifestations were severe to profound intellectual disability, muscular hypotonia in childhood, delayed walking, and difficult, aggressive behavior. There was a moderate reduction both in occipitofrontal circumference (OFC) and height and a similar facial appearance, triangular in shape with a high forehead, prominent ears, and a small pointed chin. Linkage analysis located the gene at Xp22 with maximum lod scores of 4.8 at θ = 0.0 for markers mapping between the closest recombination points at DXS7104 and DXS418. The physical length of this region is ∼6 Mb. Mutations in the GRPR gene and M6b genes were excluded by sequence analysis. Nearby genes in which mutations are known to be associated with mental retardation (RPS6KA3, STK9, and VCXA, B and C), were excluded by position. © 2003 Wiley‐Liss, Inc.
Prenatal diagnosis of mosaic tetrasomy 10p associated with megacisterna magna, echogenic focus of left ventricle, umbilical cord cysts and distal arthrogryposis
Authors: Wu Yi‐Cheng , Yu Ming‐Tsung , Chen Ling‐Chao , Chen Cheng‐Li , Yang Man‐Li 
Published: February 2003

AbstractWe present the first report of mosaic isochromosome 10p associated with multiple congenital anomalies including megacisterna magna, echogenic focus of the left ventricle, umbilical cord cysts, and distal arthrogryposis. The most obvious anomalies found on prenatal ultrasound were enlarged cisterna magna and lower limb flexion contractures which resembled clubfeet. Analyses of GTG‐banded chromosomes of 42 cells harvested from 32 independent tissue culture colonies were examined. Thirty‐five cells from 27 colonies had 46 chromosomes and appeared to be 46,XX, female karyotype. Seven cells from independent colonies had 47 chromosomes with abnormal karyotypes. The extra chromosome material was identified as isochromosome 10p without involvement of the heterochromatic region of the long arm [47,XX,+ i(10p)]. Mosaic tetrasomy 10p was confirmed using fluorescent in situ hybridization (FISH) of a 10p‐specific probe to metaphase chromosomes of this patient. © 2003 Wiley‐Liss, Inc.
Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing
Authors: McCormick James , Flower Darren R. , Strobel Stephan , Wallace Diana L. , Beverley Peter C.L. , Tchilian Elma Z. 
Published: February 2003

AbstractHemophagocytic lymphohistiocytosis (HLH) composes a group of rare heterogenous disorders characterized by uncontrolled accumulation and infiltration of activated T lymphocytes and macrophages. Cytotoxic T and natural killer cell activity is significantly reduced or absent in these patients. Mutations in the important mediator of lymphocyte cytotoxicity perforin were identified in a number of HLH individuals. Here we report a novel missense mutation thr435met in the conserved Ca2+ binding domain of perforin in a patient with HLH. Prediction of the 3‐dimensional structure of the thr435met perforin mutant using comparative molecular modeling indicates that the protein's ability to bind Ca2+, and therefore its cytolytic function, would be strongly compromised. In addition, this patient exhibited abnormal CD45 splicing caused by a C77G mutation in the gene encoding CD45 (PTPRC). Our findings suggest a combined role for perforin mutation and abnormal CD45 splicing as significant contributory factors in the pathogenesis of HLH. © 2003 Wiley‐Liss, Inc.
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
Authors: Horn Denise , Neitzel Heidemarie , Tönnies Holger , Kalscheuer Vera , Kunze Jürgen , Hinkel Georg Klaus , Bartsch Oliver 
Published: February 2003

AbstractWe report three generation family that includes two patients with severe mental retardation and additional anomalies who have been studied, clinically, cytogenetically, and molecular cytogenetically. A clinical diagnosis could not be made in the propositus, but facial anomalies of Down syndrome (DS) were recognized in the maternal uncle of the propositus. In view of a strong family history of recurrent miscarriage, a familial translocation was highly suggestive. Standard cytogenetic analysis did not reveal any abnormalities. Fluorescence in situ hybridization (FISH) using subtelomeric DNA probes identified a familial cryptic translocation of chromosomes 18 and 21, resulting in partial trisomy 21 and partial monosomy 18q in both patients. FISH analysis of obligate carriers demonstrated a balanced translocation between the terminal parts of 18q and 21q. Including this family, a total of six different familial cases with cryptic or subtle subtelomeric translocations of chromosome 21q has been reported, of which three involved terminal parts of chromosome 18q. The remarkable similarity of the chromosomal breakpoints of our patients and the described families prompted us to refine the breakpoints and to discuss phenotypic differences between these patients. Our results reinforce the role of cryptic subtelomeric rearrangements in patients with mental retardation associated with physical anomalies and stress the importance of FISH technology to supplement routine cytogenetics. © 2003 Wiley‐Liss, Inc.
FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications
Authors: Gentile M. , Di Carlo A. , Volpe P. , Pansini A. , Nanna P. , Valenzano M.C. , Buonadonna A.L. 
Published: February 2003

AbstractWe report a 24‐year‐old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42‐qter bands‐specific BAC and YAC clones located the breakpoint at the 1q42‐q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patient's features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed. © 2003 Wiley‐Liss, Inc.
Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: Problems in differential diagnosis and genetic counseling
Authors: Pryde Peter G. , Zelop C. , Pauli R.M. 
Published: February 2003

AbstractSevere localized and symmetric bowing of the femora, in the absence of other significant skeletal or nonskeletal abnormalities, is a rare prenatal ultrasound finding. A 38‐year‐old woman was referred at 19 weeks gestation and ultrasound of the fetus showed severe shortening, and marked symmetric bowing of the femora. A provisional diagnosis of kyphomelic dysplasia (KD) was made. The patient elected termination of pregnancy and post mortem assessments were most consistent with kyphomelic dysplasia. KD is bent‐bone skeletal dysplasia that, in contrast to campomelic dysplasia, involves principally the femora with relative sparing of the remainder of the skeleton. KD can be difficult to distinguish, particularly from symmetric cases of femoral hypoplasia unusual facies syndrome (FH‐UFS), and few prenatal diagnoses have been reported. Because KD is thought to an be autosomal recessive disorder, the possibility that definitive diagnosis may not be possible prenatally, and even by postmortem assessment in cases choosing to abort, is an important counseling consideration. © 2003 Wiley‐Liss, Inc.
Ring chromosome 12 with variable phenotypic features: Clinical report and review of the literature
Authors: Parmar Ramesh C. , Muranjan Mamta N. , Kotvaliwale S. , Sharma Seema , Bharucha B.A. 
Published: February 2003

AbstractA ring chromosome 12 (p13; q24.33) was observed in all cells analyzed from peripheral blood lymphocytes of a 15‐year‐old female referred for academic difficulties and growth delay. In addition to clinical manifestations generally observed with ring chromosome 12 such as growth retardation, mental deficiency, microcephaly, the patient had bilateral pseudocamptodactyly of little fingers, mild hirsutism, exaggerated lumbar lordosis, and ostium secundum atrial septal defect (ASD). The clinical features of reported cases are analyzed. The only consistent features were growth retardation and mental deficiency. Breakpoint in all the cases has been at the telomeric region with minimal deletion of chromosomal material. An account of complex changes at mitosis and meiosis in ring chromosome has been given. Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, ‐12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome. © 2003 Wiley‐Liss, Inc.
A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15
Authors: Daniel Art , Malafiej Paul 
Published: February 2003

AbstractSeven supernumerary small ring marker autosomes were studied. The pantelomere probe (Oncor) in conjunction with scoring for dicentric rings was used to confirm ring morphology. The small rings were identified mainly by FISH with chromosome probe arrays (Cytocell) containing representations from all 24 chromosomes and the rings were derived from chromosomes 7, 8 (three cases), 11, 12, and 14. The effectiveness of the array methodology in identifying markers was tested. Microsatellite DNA data showed biparental disomy (BPD) was present for the rings from chromosomes 7 and 14 thereby excluding UPD, both were de novo but the ring 14 was of paternal origin. The literature on supernumerary small ring autosomes was reviewed excluding chromosome 15. The grade and distribution of mosaicism was invoked as the major determinant of the differences in phenotype and, in addition, variation was attributed to the possibility of different contributions from each chromosome arm. There are 88 published supernumerary small ring cases in total, with phenotypic data attributable to the respective rings in 77 cases and all chromosomes being represented except chromosome 17. Of the prenatally ascertained cases, where there was adequate phenotypic data, 30% had an abnormal phenotype attributable to the ring, and there were 44% familial cases in this group. Of the postnatally ascertained small rings, 75% had an abnormal phenotype attributable to the ring and there were 13% familial cases. This higher abnormality rate is concordant with the considerable ascertainment bias of this latter group and the prenatal data are recommended for genetic counseling. Although data are small there were some differences between the rings derived from different chromosomes. Chromosomes 3 and 8 demonstrate the extremes. Of the supernumerary small r(8) cases reviewed including the three presently described, 8/11 had an abnormal phenotype attributable to the marker but of the small r(3) cases, only 1/6 had an abnormal phenotype. Two of the present r(8) were studied with the GATA4 probe at 8p23.1. The r(8) in case 2 (patient moderately retarded) was comprised mostly of an intact 8p whereas the larger r(8) in case 3 (normal phenotype) was missing 8p23.1 → pter and had more of 8q contributing to the ring. In other supernumerary rings postnatally ascertained, there is mostly insufficient data but there is an abnormal phenotype in 8/11 cases with multiple small rings, in 5/6 cases with r(20), and in 5/10 with r(1). A novel origin for supernumerary small rings is proposed: that they may originate from incompletely digested superfluous (haploid) pronuclei. The small rings presumptively so formed may occasionally be transfected into the zygote nucleus. The high proportion (∼12.5%) of cases with multiple supernumerary small rings almost always of different centromeric origin is consistent with this concept. © 2003 Wiley‐Liss, Inc.
Submicroscopic terminal deletion of 1p36.3 and Xp23 hidden in complex chromosome rearrangements: Independent mechanism of telomere restitution on the two chromatids
Authors: Reddy Kavita S. , Yang Xiaojing 
Published: February 2003

AbstractIn this study, we report two cases each with a complex chromosome rearrangement concealing a submicroscopic terminal deletion. The first case had a mos 46,XX,der(1)t(1;9)(p36.3;p13). ish der(1)(wcp9 +, 1ptel−, 9ptel +, pan tel +)[88]/46,XX. ish del(1)(1ptel −, 9ptel −, pan tel +)[12] karyotype. Scrutiny by FISH using wcp 9, 1ptel, 9ptel, and pan telomeric probes found a subtelomeric 1ptel deletion on the der(1) in the abnormal cell line and on a chromosome 1 in the apparently normal cell line. The telomere (TTAGGG)n, however, was present on the terminal ends of both copies of chromosome 1 in the apparently normal and abnormal cell lines. The second case had a de novo mos 46,X,der(X)t(X;22)(p22.3;q11.2),inv dup(22)(q11.2).ish der(X)(wcpX +,wcp22 +,KAL +, STS −,Xptel −,BCR +),inv dup(22)(wcp22 +,TUPLE ++,BCR −)[85]/45,X,der(X)t(X;22)(p22.3;q11.2),− 22[15].ish der(X)(wcpX +,wcp22 +, KAL +,STS −,Xptel −,BCR +) karyotype. FISH probes identified a terminal Xpter deletion, distal to the KAL gene. The two rearrangements are hypothesized to have been initiated by a terminal deletion. We propose a model for the formation of the rearrangement in Case 1, which invokes independent telomere stabilization of the sister chromatids. A terminal deletion 1pter in meiosis, was followed by acquiring or regenerating a telomere (TTAGGG)n cap on one chromatid and the other chromatid was involved in a translocation with a chromosome 9 chromatid. Following segregation of this chromosome the viable cell line survives to form the mosaic karyotype. Our findings suggest that subtelomeric deletions should be ruled out in cases with complex and simple rearrangements involving the terminal regions. © 2003 Wiley‐Liss, Inc.
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities
Authors: Battisti C. , Bonaglia M.C. , Giglio S. , Anichini C. , Pucci L. , Dotti M.T. , Zuffardi O. , Federico A. 
Published: February 2003

AbstractA de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints. © 2003 Wiley‐Liss, Inc.
Zimmermann–Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: Molecular cytogenetic characterization of the breakpoint regions
Authors: Stefanova Margarita , Atanassov Dimitar , Krastev Tzaniu , Fuchs Sigrid , Kutsche Kerstin 
Published: February 2003

AbstractZimmermann–Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, abnormalities of the nose and/or ears, and absence or hypoplasia of nails or terminal phalanges of hands and feet. Other more variable features include hyperextensibility of joints, hepatosplenomegaly, mild hirsutism, and mental retardation. The genetic basis of ZLS is unknown; autosomal dominant inheritance has been suggested. We report an apparently balanced chromosomal aberration, 46,XX, t(3;8)(p13‐p21.2;q24.1‐q24.3), in a family with an affected mother and daughter. Using fluorescence in situ hybridization with BAC clones, we refined the breakpoints to 3p21.2 and 8q24.3 and, thereby, narrowed down both breakpoint regions to approximately 1.5 Mb. Our data provide additional support to the assumption that ZLS follows autosomal dominant inheritance. The 3;8 translocation described here represents a powerful resource to identify the causative gene for ZLS that maps most likely to one of the breakpoints. © 2003 Wiley‐Liss, Inc.