bluuebunny/crossref_metadata_2025_split huggingface dataset:
Arsenic trioxide‐ and idarubicin‐induced remissions in relapsed acute promyelocytic leukaemia: Clinicopathological and molecular features of a pilot study
Authors: Kwong Y.L. , Au W.Y. , Chim C.S. , Pang A. , Suen C. , Liang R. 
Published: August 2002

AbstractArsenic trioxide (As2O3) effectively induces remissions in relapsed acute promyelocytic leukaemia (APL), but the safety of its long‐term administration is unknown. The anthracycline idarubicin is highly active alone or in combination chemotherapy for the treatment of APL. To minimize arsenic exposure and based on the high sensitivity of APL cells to anthracyclines, we conducted a prospective study to evaluate induction with As2O3 followed by consolidation with idarubicin in the treatment of APL in relapse. Eight patients were treated with As2O3 at a daily dose of 10 mg until remission, followed by three monthly courses of idarubicin, at 6 mg/m2/day for 5 days in the first course and 6 mg/m2/day for 2 days in the subsequent two courses. All patients achieved morphological but not molecular remission after As2O3 treatment. During As2O3 therapy, an increase in white cell count peaking at a median of 17 days occurred in all the cases. Serial flow cytometric analysis of apoptosis, with mitochondrial APO2.7 antigen expression and the sub‐G1 cell fraction on DNA histogram as markers, showed induction of apoptosis of APL cells in vivo. With both qualitative and real‐time quantitative polymerase chain reaction, all patients were shown to attain molecular remission after subsequent idarubicin treatment. With a median follow up of 13 months, seven of eight patients have remained in complete clinical remission, with six patients in molecular remission as well. One patient who was in third remission became PCR‐positive after being transiently negative. One patient died from an intracranial extramedullary relapse after achieving marrow molecular remission. We conclude that As2O3 induction followed by idarubicin consolidation is an effective therapy for APL in relapse. This regimen avoids the possible long‐term toxicities of As2O3 and mutagenicity of combination chemotherapy, a strategy that might be suitable for this potentially curable leukaemia. Am. J. Hematol. 66:274–279, 2001. © 2001 Wiley‐Liss, Inc.
Thalidomide‐associated hepatitis: A case report
Authors: Fowler Robert , Imrie Kevin 
Published: August 2002

AbstractWe report a case of hepatitis in a 58‐year‐old woman being treated with thalidomide for end‐stage plasma cell leukemia. The patient had a medical history including chronic stable hepatitis C infection. At diagnosis there was a severe anemia, thrombocytopenia, hypercalcemia, IgG paraproteinemia, peripheral blood myeloma cells, and a marrow plasmacytosis with lytic bony lesion. The disease was refractory to standard chemotherapy, and she was treated with oral thalidomide. Within 1 week she became jaundiced and developed a marked transaminitis. This promptly resolved upon cessation of thalidomide alone. Thalidomide has recently enjoyed renewed interest as a treatment in many disorders, including plasma cell leukemia. To our knowledge, this is the first reported case of thalidomide‐associated hepatotoxicity. Although the mechanism of its actions on the liver are uncertain, it is possible that thalidomide acts as a direct hepatotoxin or as an immuno‐modulator, altering the activity of chronic viral hepatitis. We present this case to increase awareness of a new potential side effect of thalidomide as its clinical indications expand. Am. J. Hematol. 66:300–302, 2001. © 2001 Wiley‐Liss, Inc.
Successful treatment of severe aplastic anemia associated with human parvovirus B19 and Epstein‐Barr virus in a healthy subject with allo‐BMT
Authors: Kaptan Kürşad , Beyan Cengiz , Ural Ali Uğur , Üstün Celalettin , Çetin Türker , Avcu Ferit , Kubar Ayhan , Alış Metin , Yalçın Atilla 
Published: August 2002

AbstractSeveral reports have noted pancytopenia associated with Human parvovirus B19 (PVB19) or Ebstein‐Barr virus (EBV) infections in patients who have no history of immunodeficiency. To our knowledge, we report the first case of severe aplastic anemia associated with both EBV and PVB19 infections in a previously healthy 22‐year‐old man. He was admitted to our hematology service due to anemia and thrombocytopenia. He had no symptoms or signs of infections of these viruses. His bone marrow biopsy revealed a hypocellular marrow. Specific IgM and IgG antibodies to EBV and PVB19 were elevated. EBV and PVB19 virus genomes were detected by PCR in the bone marrow nucleated cells and the peripheral blood lymphocytes. Two months after treatment with prednisone, acyclovir, and intravenous immune globulin (IVIg), the genomes of both these viruses disappeared. However, his transfusion requirement for platelet suspensions and packed red blood cells persisted. The patient underwent allogeneic bone marrow transplant (allo‐BMT) and has had an enduring complete hematological response for 8 months. Am. J. Hematol. 67:252–255, 2001. © 2001 Wiley‐Liss, Inc.
Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance
Authors: Viot Géraldine , Lacombe Didier , David Albert , Mathieu Michèle , de Broca Alain , Faivre Laurence , Gigarel Nadine , Munnich Arnold , Lyonnet Stanislas , Le Merrer Martine , Cormier‐Daire Valérie 
Published: August 2002

AbstractOsteopathia striata with cranial sclerosis (OS‐CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS‐CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X‐inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non‐random X‐inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X‐linked dominant inheritance. © 2001 Wiley‐Liss, Inc.
Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)
Authors: Imaizumi Kiyoshi , Kimura Junko , Matsuo Mari , Kurosawa Kenji , Masuno Mitsuo , Niikawa Norio , Kuroki Yoshikazu 
Published: August 2002

AbstractWe describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:291–293]) as one of translocation breakpoints in the present patient. We suggest that the gene responsible for Sotos syndrome is located to a distal long‐arm region of chromosome 5. © 2001 Wiley‐Liss, Inc.
Correlation between serotonin uptake in human blood platelets with the 44‐bp polymorphism and the 17‐bp variable number of tandem repeat of the serotonin transporter
Authors: Kaiser Rolf , Müller‐Oerlinghausen Bruno , Filler Diana , Tremblay Pierre‐Benoit , Berghöfer Anne , Roots Ivar , Brockmöller Jürgen 
Published: August 2002

AbstractDysfunctions of the central serotonin (5‐hydroxytryptamine, 5‐HT) system seem to be associated with psychiatric disorders such as schizophrenia or depression. Previous studies suggested that a 44‐bp insertion/deletion polymorphism of the 5‐HT transporter (5‐HTT) promoter region might influence the transcriptional activity of the 5‐HTT gene, and the insertion variant resulted in increased 5‐HTT expression and 5‐HT uptake. Moreover, a 17‐bp variable number of tandem repeat (VNTR) polymorphism of the second intron may act as a transcriptional regulator with allele dependent differential enhancer‐like properties. Since the 5‐HTT of human platelets shares many properties with the transporter of neural tissue, platelets are widely used as a surrogate tissue source, possibly reflecting central 5‐HT metabolism. Therefore, we investigated the impact of the 44‐bp polymorphism and the 17‐bp VNTR for 5‐HT uptake in platelets of 50 male subjects. We found no significant effect of the 44‐bp polymorphism and of the 17‐bp VNTR on maximum rate (Vmax) of 5‐HT uptake. However, individuals homozygous for the 5‐HTT intron 2 allele with 12 repeats (STin2.12) of the 17‐bp VNTR appeared to have lower affinity of 5‐HT uptake than individuals heterozygous for the STin2.10/STin2.9 allele. This was also observed for the combined analysis of both polymorphisms. In conclusion, we found no association between the different genotypes of the 44‐bp polymorphism and the 17‐bp VNTR and maximum rate of 5‐HT uptake into platelets. © 2002 Wiley‐Liss, Inc.
The norepinephrine transporter gene and attention‐deficit hyperactivity disorder
Authors: Barr Cathy L. , Kroft Jamie , Feng Yu , Wigg Karen , Roberts Wendy , Malone Molly , Ickowicz Abel , Schachar Russell , Tannock Rosemary , Kennedy James L. 
Published: August 2002

AbstractThe adrenergic system plays a known role in attentional systems and a suspected causal role in attention‐deficit hyperactivity disorder (ADHD), based on evidence from pharmacological interventions and animal models. The efficacy of the highly selective noradrenergic reuptake inhibitor, tomoxetine, in treating ADHD symptoms supports the system's role in ADHD and points to the norephinephrine transporter as a candidate gene. This study tested the gene for the norepinephrine transporter (NET1) as a susceptibility factor in ADHD using three polymorphisms located in exon 9, intron 9, and intron 13. We examined the inheritance of these polymorphisms in a sample of 122 families with a total of 155 children with ADHD identified through an ADHD proband. Use of the transmission disequilibrium test failed to show significant evidence for biased transmission of any of the alleles or the haplotypes of these polymorphisms. We further investigated this gene by screening the probands for five known amino acid variants to determine if they contributed to the ADHD phenotype but observed only one (Thr99Ile) in our sample. Since the frequency of this variant (1.8%) was similar to that previously reported in a control sample (2.2%), it is unlikely that this variant is related to the ADHD phenotype. Our results do not support the NET1 gene as a major genetic susceptibility factor in ADHD. © 2002 Wiley‐Liss, Inc.
Absence of thumbs, a/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation
Authors: Wieczorek Dagmar , Köster Bernhard , Gillessen‐Kaesbach Gabriele 
Published: August 2002

AbstractThe previously unreported combination of bilateral absence of thumbs, aplasia of ulna at one and hypoplasia of ulna on the other side, retarded bone age, short stature, microcephaly, micropenis, cryptorchidism, and mental retardation is described in a 5‐year‐old boy. Having excluded major differential diagnoses, e.g. Fanconi anemia, RAPADILINO syndrome and VACTERL association, we hypothesize that this boy represents a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome. © 2002 Wiley‐Liss, Inc.
Determining isotopic life history trajectories using bone density fractionation and stable isotope measurements: A new approach
Authors: Bell Lynne S. , Cox Glenda , Sealy Judith 
Published: August 2002

AbstractA number of recent studies have attempted to trace diet at different stages of an individual's life by comparing isotope ratios of bone from different gross anatomical sites within the skeleton. In this study we develop this approach further by separating bone of differing mineral densities within one skeletal element, where each density fraction represents a different period of time. Isotope ratios are measured for these fractions. Each density fraction represents a period of bone formation and maturation, where younger (more recently formed) bone is less well‐mineralized and therefore less dense than relatively older packets of bone. In an adult, bone is therefore able to partition approximately the last 15 years of life. Bone fractions were recovered by stepped ultracentrifugation in a series of organic solvents of increasing density, and then collagen was recovered by decalcification in dilute acid, and stable carbon isotope ratios (13C/12C) were measured. Bone density microstructure was checked for bacterial remodelling using backscattered electron imaging in a scanning electron microscope. Our results indicate that the bone density fractionation method is applicable to archaeological material, here extending to a maximum of 5,000 years BP, and that collagen can successfully be extracted from such fractions. The carbon isotope values for bone fractions of different densities patterned out as expected in one modern control bone and in specimens from five archaeological human skeletons, including three precolonial hunter‐gatherers and two 18th/19th century individuals. The latter two are known (from previous assessments) to have undergone marked changes in diet during their lifetimes. Postmortem alteration was evident in some of the specimens examined. The bone density fractionation approach has allowed greater resolution of diet than has hitherto been possible and has provided access to the elusive last years and months of an individual's life. Am J Phys Anthropol 116:66–79, 2001. © 2001 Wiley‐Liss, Inc.
Perikymata spacing and distribution on hominid anterior teeth
Authors: Dean M.C. , Reid D.J. 
Published: August 2002

AbstractWe documented the spacing and distribution of perikymata on the buccal enamel surface of fossil hominin anterior teeth with reference to a sample of modern human and modern great ape teeth. A sample of 27 anterior teeth attributed to Australopithecus (5 to A. afarensis, 22 to A. africanus) and of 33 attributed to Paranthropus (6 to P. boisei, and 27 to P. robustus) were replicated and sputter‐coated with gold to enable reflected light microscopy of their surface topography. Anterior teeth were then divided into 10 equal divisions of buccal crown height. The total perikymata count in each division of crown height was recorded using a binocular microscope fitted with a vernier micrometer eyepiece. Then the mean number of perikymata per millimeter was calculated for each division. Similar comparative data for a modern sample of 115 unworn human anterior teeth and 30 African great ape anterior teeth were collected from ground sections. Perikymata counts in each taxon (together with either known or presumed periodicities of perikymata) were then used to estimate enamel formation times in each division of crown height, for all anterior tooth types combined. The distributions of these estimates of time taken to form each division of crown height follow the same trends as the actual perikymata counts and differ between taxa in the same basic way. The distinction between modern African great apes and fossil hominins is particularly clear. Finally, we calculated crown formation times for each anterior tooth type by summing cuspal and lateral enamel formation times. Estimates of average crown formation times in australopiths are shorter than those calculated for both modern human and African great ape anterior teeth. The data presented here provide a better basis for exploring differences in perikymata spacing and distribution among fossil hominins, and provide the first opportunity to describe four specimens attributed to Homo in this context. Preliminary data indicate that differences may exist among the species attributed to early Homo, especially between Homo ergaster and Homo rudolfensis on the one hand, and Homo habilis sensu strico on the other. Am J Phys Anthropol 116:209–215, 2001. © 2001 Wiley‐Liss, Inc.
Articular area responses to mechanical loading: effects of exercise, age, and skeletal location
Authors: Lieberman Daniel E. , Devlin Maureen J. , Pearson Osbjorn M. 
Published: August 2002

AbstractHow reliable are reconstructions of body mass and joint function based on articular surface areas? While the dynamic relationship between mechanical loading and cross‐sectional geometry in long bones is well‐established, the effect of loading on the subchondral articular surface area of epiphyses (hereafter, articular surface area, or ASA) has not been experimentally tested. The degree to which ASA can change in size and shape is important, because articular dimensions are frequently used to estimate body mass and positional behavior in fossil species. This study tests the hypothesis that mechanical loading influences ASA by comparing epiphyses of exercised and sedentary sheep from three age categories: juvenile, subadult, and adult (n = 44). ASA was measured on latex molds of subchondral articular surfaces of 10 epiphyses from each sheep. Areas were standardized by body mass, and compared to diaphyseal cross‐sectional geometrical data. Nonparametric statistical comparisons of exercised and control individuals found no increases in ASA in response to mechanical loading in any age group. In contrast, significant differences in diaphyseal cross‐sectional geometry were detected between exercised and control groups, but mostly in juveniles. The conservatism of ASA supports the hypothesis that ASA is ontogenetically constrained, and related to locomotor behavior at the species level and to body mass at the individual level, while variations in diaphyseal cross‐sectional geometry are more appropriate proxies for individual variations in activity level. Am J Phys Anthropol 116:266–277, 2001. © 2001 Wiley‐Liss, Inc.
Late‐onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation
Authors: Hayashi Shintaro , Toyoshima Yasuko , Hasegawa Masato , Umeda Yuri , Wakabayashi Koichi , Tokiguchi Susumu , Iwatsubo Takeshi , Takahashi Hitoshi 
Published: August 2002

AbstractWe report a case of frontotemporal dementia and parkinsonism linked to chromosome 17 of 5 years' duration in an 81‐year‐old man whose brother had died at age 86 years with dementia. In this patient, we found frontal and temporal neuronal loss, glial‐predominant tau deposits, progressive supranuclear palsy‐like straight tubules, accumulation of 4‐repeat‐predominant Sarkosyl‐insoluble tau, and a novel exon 1 (Arg5His) tau gene mutation. This mutation decreased microtubule‐promoting capacity and increased fibrillation of tau in vitro. Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late‐onset dementia.
Relapsing–remitting autoimmune agrypnia
Authors: Batocchi Anna Paola , Della Marca Giacomo , Mirabella Massimiliano , Caggiula Marcella , Frisullo Giovanni , Mennuni Gioacchino Francesco , Tonali Pietro Attilio 
Published: August 2002

AbstractA woman affected by multiple cranial nerve palsy developed several episodes of total insomnia and respiratory crises resulting from central breathing depression associated with dysautonomic symptoms. Oligoclonal IgG bands were present in her cerebrospinal fluid, and immunohistochemistry showed increased binding of serum and cerebrospinal fluid on γ‐aminobutyric acid‐ergic, synapse‐rich neuronal cells. Immunosuppressive treatment and plasma exchange were followed by clinical improvement, with restoration of sleep architecture and disappearance of respiratory crises, suggesting autoimmune pathogenesis of the syndrome.
Metabolism and organ distribution of arsenic in the freshwater fish Tilapia mossambica
Authors: Suhendrayatna  , Ohki Akira , Nakajima Tsunenori , Maeda Shigeru 
Published: August 2002

AbstractArsenic concentration and arsenic speciation in the liver, intestine, ovary, bone, brain, muscle, gill and eye of the freshwater fish Tilapia mossambica exposed to arsenic were investigated. The profile of arsenic distribution­in tissues of T. mossambica after exposure­to a medium containing arsenate was brain >­intestine  > ovary >   eyes >  muscle  > gill >  bone­> liver. The minimum content of arsenic is in liver tissue (2.5 μgAs g‐1 dry weight), whereas the maximum content is in brain tissue (61.8 μgAs­g‐1 dry weight). Arsenic accumulated in liver tissue was present as methylated arsenic species, and no inorganic arsenic species were found in liver tissue. A notable exception is in brain tissue. Most arsenic accumulated in brain tissue was inorganic arsenic species, and no methylated arsenic was found in brain tissue. In a dietary exposure treatment, the maximum arsenic accumulation in the tissue of T. mossambica fed with Neocaridina denticulata dosed with arsenic from a Chlorella vulgaris diet (via the food chain) is in the ovary (7.4 μgAs g‐1 dry weight), followed by gill, liver, muscle, bone, brain, eyes and intestine. Trace amounts of methylated arsenic were found in liver tissue in this treatment. Methylated arsenic in fish exposed via water was more evenly distributed in the organs compared with dietary exposure. Copyright © 2001 John Wiley & Sons, Ltd.
Speciation of arsenic in tube‐well water samples collected from West Bengal, India, by high‐performance liquid chromatography–inductively coupled plasma mass spectrometry
Authors: Shraim Amjad , Sekaran N. Chandra , Anuradha C. D. , Hirano Seishiro 
Published: August 2002

AbstractThe objective of this study was to report on the arsenic species present in tube‐well water samples collected from West Bengal, India, especially dimethylarsinic acid (DMA) and monomethylarsonic acid (MMA), whose existence has not been reported in the literature. The water samples were collected from Jalangi Gram Panchayet (Murshidabad district, West Bengal, India). The samples were speciated for arsenic 11 days after collection. The samples were collected in duplicate. One part was acidified with nitric acid (final concentration 0.1%), whereas the other part was left unacidified. A quick and highly sensitive high‐performance liquid chromatography–inductively coupled plasma mass spectrometry (HPLC–ICPMS) technique was employed for the separation and detection of the arsenic species. Four arsenic species, namely arsenite [arsenic(III)], DMA, MMA and arsenate [arsenic(V)] were separated and analysed in less than 5 min. Total arsenic concentration was determined by flow injection (FI)‐ICPMS. Most of the samples were found to contain low concentrations of DMA and MMA (<2.1 ppb) and high concentrations of inorganic arsenic (>300 ppb). The existence of DMA and MMA in both acidified and unacidified water samples and in similar concentrations suggests that their presence is natural and not due to acidification. The detection limit of the four arsenic species was 0.06–0.10 ppb. The method was validated by spike recovery and analysis of two water standard reference materials (SRMs). The percentage recoveries of added spikes of all four species were 97–112%. The total arsenic concentration obtained by FI‐ICPMS and the sum of the four arsenic species obtained by HPLC–ICPMS for the two water SRMs agreed with the certified values. Moreover, the difference between the total arsenic and the sum of the four arsenic species for most of the water samples was less than 10%. Copyright © 2002 John Wiley & Sons, Ltd.