bluuebunny/crossref_metadata_2025_split huggingface dataset:
B‐CAM/LU expression and the role of B‐CAM/LU activation in binding of low‐ and high‐density red cells to laminin in sickle cell disease
Authors: Zen Qin , Batchvarova Milena , Twyman Christina A. , Eyler Christine E. , Qiu Huiling , De Castro Laura M. , Telen Marilyn J. 
Published: January 2004

AbstractRed blood cells from patients with sickle cell disease (SS RBC) adhere to laminin and over‐express the high‐affinity laminin receptor basal cell adhesion molecule/Lutheran protein (B‐CAM/LU). This receptor has recently been shown to undergo activation in vitro through a protein kinase A‐dependent mechanism. Low‐density SS RBC express two‐thirds more B‐CAM/LU than high‐density SS RBC. However, high‐density SS RBC have been identified as most adherent to laminin under flow conditions. We investigated the ability of low‐ and high‐density SS RBC to interact with laminin under various conditions and explored factors that might be responsible for the differences in B‐CAM/LU–laminin interaction between high‐ and low‐density SS RBC. We confirmed that high‐density SS RBC adhere to laminin more strongly than low‐density SS RBC under flow conditions. However, low‐density SS RBC bind soluble laminin most strongly and are the most adherent to laminin under static conditions. Soluble recombinant Lutheran extracellular domain protein completely blocked SS RBC adhesion to laminin under both static and flow conditions. The protein kinase A inhibitor 14‐22 amide inhibited adhesion to laminin during flow by high‐density SS RBC from patients with strongly adherent cells but had no effect on adhesion observed after a static phase. Deletion of the cytoplasmic domain of B‐CAM as well as mutation of the juxtamembranous tyrosine residue failed to reduce B‐CAM‐mediated adhesion to laminin by transfected MEL cells. These studies confirm that B‐CAM/LU is the most critical receptor mediating adhesion to laminin under both static and flow conditions. Dense SS RBC are most adherent to laminin despite bearing fewer laminin receptors, apparently due to a reversible protein kinase A‐dependent process that is unlikely to involve direct phosphorylation of B‐CAM/LU. Our results also suggest that the nature of the interaction of B‐CAM/LU with laminin may be different under static and flow conditions. Am. J. Hematol. 75:63–72, 2004. © 2004 Wiley‐Liss, Inc.
Th1/Th2 cytokine profiles and their relationship to clinical features in patients following nonmyeloablative allogeneic stem cell transplantation
Authors: Guo Hongfeng , Qiao Zhenhua , Zhu Lei , Wang Hongwei , Su Liping , Lu Yujin , Cui Yuee , Jiang Bo , Zhu Qioujuan , Xu Lianrong 
Published: January 2004

AbstractAn imbalance in helper T‐cell type 1 (Th1) and type 2 (Th2) cytokines is suggested to play an important role in the pathogenesis of acute graft‐versus‐host disease (aGVHD). The aim of this study was to investigate the cytokine bias acquired by T cells after transplantation and its possible influence on relapse of original malignancy. Cytokine levels by peripheral CD4 and CD8 T cells were tested at various pre‐ and post‐transplant time points with fluorescein isothiocyanate‐based intracellular cytokine assay after short‐term in vitro mitogenic stimulation (phorbol myristate acetate + ionomycin). In both CD4+ and CD8+ cells, interferon (IFN)‐γ‐producing cell populations increased, indicating a shift to a Th1 cytokine profile with aGVHD. IFN‐γ‐producing T cells was significantly lower in patients who experienced relapse of original disease compared to those who showed no signs of relapse and compared to normal controls. Our studies demonstrate that aGVHD correlates with a Th1 bias and that Th1 response may potentiate an effective immune surveillance. Am. J. Hematol. 75:78–83, 2004. © 2004 Wiley‐Liss, Inc.
Serum level of interleukin‐16 in multiple myeloma patients and its relationship to disease activity
Authors: Alexandrakis Michael G. , Passam Freda H. , Kyriakou Despina S. , Christophoridou Anna V. , Perisinakis Kostas , Hatzivasili Aria , Foudoulakis Andreas , Castanas Elias 
Published: January 2004

AbstractInterleukin‐16 (IL‐16) is a chemoattractant of CD4(+) lymphocytes, and it has been implicated in the pathogenesis of various inflammatory diseases. There is evidence that it may have a role in multiple myeloma (MM). In the present study, we determined the serum level of IL‐16 both before and after treatment of MM and related it to inflammatory markers and survival. Forty‐eight newly diagnosed MM patients were included in the study. Disease stage was defined using the Durie–Salmon classification system (10 patients were in stage I, 19 in stage II, and 19 in stage III). After standard treatment, 22 patients reached the plateau phase and were re‐evaluated. The following serum parameters were measured: IL‐16, IL‐6, α‐1 antitrypsin (α1AT), and C‐reactive protein (CRP). Survival was determined as the number of months elapsed since original diagnosis. The mean ± SD of serum IL‐16 was 343 ± 195 pg/ml in the pre‐treatment MM group and 101 ± 30 pg/ml in the control group. All measured parameters were higher in the patient group compared to healthy controls. Furthermore, IL‐16, IL‐6, α1AT, and CRP were significantly increased with increasing stage of disease, from stage I to stage III (P < 0.01). All parameters decreased significantly following effective chemotherapy (P < 0.002). Patients with a high level of IL‐16 (>430 pg/ml) displayed an inferior survival time in comparison to those with lower levels of IL‐16. In the pre‐treatment group, IL‐16 correlated with α1AT and IL‐6 (r = 0.374, P < 0.01 and r = 0.454, P < 0.002, respectively). IL‐16 may play a role in multiple myeloma; however, further functional studies are required. Am. J. Hematol. 75:101–106, 2004. © 2004 Wiley‐Liss, Inc.
C1272S: A new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP lb‐IX
Authors: Penas Norma , Pérez Almudena , González‐Boullosa Rosario , Batlle Javier 
Published: January 2004

AbstractMost of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3′ region of exon 28 of the von Willebrand factor (VWF) gene. A patient with lifelong and severe bleeding diathesis and laboratory data of type 2A VWD is described. The analysis of the complete exon 28 of the VWF gene showed a 3815 G→C change within the A1 domain, resulting in the C1272S missense mutation in a heterozygous state. The substitution was not found in 100 normal alleles also examined and has not been described previously. This candidate mutation would interrupt the formation of the disulfide loop 1272–1458, which is important in maintaining the adequate conformation of the VWF functional domain that interacts with platelet glycoprotein Ib‐IX. Gene expression of this candidate mutation is necessary to confirm its role. Am. J. Hematol. 75:73–77, 2004. © 2004 Wiley‐Liss, Inc.
Chronic myeloid leukemia with an e13a3 BCR‐ABL fusion: Benign course responsive to imatinib with an RT‐PCR advisory
Authors: Snyder David S. , McMahon Ross , Cohen Sandra R. , Slovak Marilyn L. 
Published: January 2004

AbstractA case of a patient with chronic myeloid leukemia whose cells expressed an e13a3 (b2a3) variant BCR‐ABL p210 mRNA is presented. The variant splice was detected by a qualitative reverse transcriptase polymerase chain reaction using primers complementary to BCR exon 13 (b2) and ABL exon 3 (a3). The patient responded well to imatinib and achieved a complete cytogenetic response. Am. J. Hematol. 75:92–95, 2004. © 2004 Wiley‐Liss, Inc.
Clinical usefulness of a functional assay for the von Willebrand factor cleaving protease (ADAMTS 13) and its inhibitor in a patient with thrombotic thrombocytopenic purpura
Authors: Rick M.E. , Austin H. , Leitman S.F. , Krizek D.M. , Aronson D.L. 
Published: January 2004

AbstractDecreased von Willebrand factor cleaving protease activity (VWFCP, ADAMTS 13) leads to persistence of unusually large multimers of von Willebrand factor that bind to platelets, causing platelet aggregates, microangiopathic hemolysis, and thrombocytopenia in patients with thrombotic thrombocytopenic purpura (TTP). The clinical value of measuring ADAMTS 13 and its inhibitor is not fully defined; the case reported here illustrates the usefulness of the assay to help confirm the clinical diagnosis in a patient with other potential causes for thrombotic microangiopathy; the assay also helped in making treatment decisions. A patient with systemic lupus erythematosis (SLE) presented with fever and abdominal pain, thrombocytopenia, and anemia. Thrombotic microangiopathy was diagnosed by the appearance of schistocytes, decreasing platelet count, and evidence of hemolysis. ADAMTS 13 was decreased and an inhibitor was demonstrated in the patient's initial blood sample within 24 hr of admission. Plasma exchange was initiated, and serial assays showed increased ADAMTS 13 activity and decreased inhibitor after each plasma exchange; there was a rebound in inhibitor and a decrease in ADAMTS 13 activity prior to the next exchange that lessened over time. Increasing levels of protease activity correlated with clinical and laboratory improvement. Measurement of ADAMTS 13 activity and its inhibitor aided in the diagnosis of this complicated case of a patient with other potential causes for microangiopathic hemolysis. Subsequent levels correlated with the clinical course, and disappearance of the inhibitor indicated that long‐term plasma exchange or other immunosuppressive treatment was not needed. Am. J. Hematol. 75:96–100, 2004. Published 2004 Wiley‐Liss, Inc.†
Unexplained bone marrow granulomas: Is amiodarone the culprit? A report of 2 cases
Authors: Mukhopadhyay Surabhi , Mukhopadhyay Sanjay , Abraham Naif Z. , Jones Lee A. , Howard Leslie , Gajra Ajeet 
Published: January 2004

AbstractGranulomas in the bone marrow are usually caused by infectious or hematological diseases, and drugs are only rarely implicated as causative agents. Recent reports have drawn attention to the role of amiodarone in the etiology of bone marrow granulomas. We report two cases of amiodarone‐induced bone marrow granulomas in patients being investigated for refractory anemia and pancytopenia, respectively. Since both patients had life‐threatening arrhythmias, discontinuation of the drug followed by rechallenge was not possible. Both patients did well in spite of continued amiodarone therapy, indicating that the underlying hematological illnesses were unrelated to the granulomas. Amiodarone should be considered as a possible cause of bone marrow granulomas after the exclusion of other causes. Continued use of amiodarone after granuloma formation must be dictated by the underlying cardiac condition. Am. J. Hematol. 75:110–112, 2004. © 2004 Wiley‐Liss, Inc.
Hepatosplenic γδ T‐cell lymphoma in a 10‐year‐old boy successfully treated with hematopoietic stem cell transplantation
Authors: Gassas Adam , Kirby Melanie , Weitzman Sheila , Ngan Bo , Abla Oussama , Doyle John J. 
Published: January 2004

AbstractThe authors report a 10‐year‐old boy with hepatosplenic γδ T‐cell lymphoma, a rare form of lymphoma that is highly aggressive, exceedingly rare in children, and primarily seen in young men. Conventional multi‐agent chemotherapy appears to be inadequate for cure. This is the first report with this type of lymphoma in a boy less than 15 years old treated with hematopoietic stem cell transplantation (HSCT). Am. J. Hematol. 75:113–114, 2004. © 2004 Wiley‐Liss, Inc.
Septo‐optic dysplasia and amniotic bands: Further evidence for a vascular pathogenesis
Authors: Stevens Cathy A. , Dobyns William B. 
Published: January 2004

AbstractSepto‐optic dysplasia (SOD) is a heterogeneous disorder. While most cases represent an isolated defect, SOD has also been seen in association with mutations in single genes, as a part of multiple congenital anomaly syndromes and with exposure to various teratogens. We report a boy with features of SOD who also has limb defects suggestive of amniotic bands. This case, in addition to others in the literature, provides evidence for a vascular pathogenesis of SOD in some individuals. This hypothesis is also supported by the sporadic occurrence of SOD and its association with decreased maternal age, vascular teratogens, and neuropathologic findings suggestive of vascular insults. © 2003 Wiley‐Liss, Inc.
Unbalanced cryptic 5p deletion/17p duplication identified by subtelomeric FISH in a family with a boy with chimerism and a balanced t(4;5)
Authors: Ensenauer Regina , Jalal Syed , Meyer Reid , Babovic‐Vuksanovic Dusica 
Published: January 2004

AbstractThe use of subtelomeric FISH probes has greatly supplemented conventional chromosome analysis in detecting cryptic anomalies in patients with mental retardation (MR), dysmorphic features, and congenital malformations. We report a 3‐month‐old boy who was diagnosed with ambiguous genitalia, dysmorphic features, and developmental delay. Standard chromosome studies on blood revealed a chimeric karyotype of 46,XY,t(4;5)(q31.1;q14)[46]/46,XX[4]. The boy had intra‐abdominal gonads that were testicular in origin by biopsy. Multiple dysmorphic features, marked hypotonia, developmental delay, poor growth, and relative macrocephaly were noted on physical exam. His 2.5‐year‐old sister also presented with hypotonia, developmental delay, relative macrocephaly, and similar dysmorphic stigmata. In addition, she was diagnosed with several internal malformations. Her karyotype was 46,XX. Due to the striking phenotypic similarity, subtelomeric FISH studies were initiated in the siblings. In addition to the known balanced karyotypic abnormalities, the boy was found to have a derivative chromosome 5 with a 5pter deletion and a 17pter duplication. This cryptic abnormality was also detected in his sister. Chromosome analysis of the father revealed a subtle balanced t(5;17)(p15.31;p13.1) which was confirmed by subtelomeric FISH, whereas the mother's chromosome complement was normal. This familial constellation illustrates the usefulness of subtelomeric FISH in the diagnosis of cryptic chromosome abnormalities in patients for whom conventional karyotype does not disclose findings sufficient to explain the observed phenotypic anomalies. © 2003 Wiley‐Liss, Inc.
Nonsyndromic cleft lip and palate: Four chromosomal regions of interest
Authors: Blanton Susan H. , Bertin Terry , Patel Sketa , Stal Samuel , Mulliken John B. , Hecht Jacqueline T. 
Published: January 2004

AbstractNonsyndromic cleft lip with or without cleft palate (NSCLP), a common birth defect affecting 1/700 live births and 4,000 newborns/year in the United States, is associated with short and long‐term morbidity. As such, it has significant impact on the health care system. NSCLP is a complex disorder that results from the interaction of genetic and environmental factors that are slowly being defined. Genomic scans have suggested a number of regions that may contain NSCLP loci. In this study, we have evaluated regions identified by a previously published genomic scan of affected sib‐pairs and have found evidence of association in sixty‐five multiplex families for eight chromosomal regions. Four of these regions, 2q37, 11p12‐14, 12q13, and 16p13, have also been identified in second genomic scan of multiplex families from China. One region, defined by D11S1392, gave evidence suggesting the presence of an NSCLP locus in all three studies. Altogether, these results suggest chromosomal regions that should be targeted in order to identify NSCLP loci. © 2003 Wiley‐Liss, Inc.
Targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families
Authors: Schultz R.E. , Cooper M.E. , Daack‐Hirsch S. , Shi M. , Nepomucena B. , Graf K.A. , O'Brien E.K. , O'Brien S.E. , Marazita M.L. , Murray J.C. 
Published: January 2004

AbstractCleft lip with or without cleft palate (CL/P) is a congenital anomaly with variable birth prevalence based on geographic origins, with the highest rates commonly found in Asian populations. About 70% of cases are nonsyndromic (NS), in which the affected individual has no other abnormalities. NS CL/P is a complex disorder with genetic and environmental effects and no specific genetic loci yet confirmed. Fifteen candidate regions were examined for linkage to NS CL/P. Regions were chosen based on previous suggestive linkage and/or association in human families, or suggestive animal model data. Polymorphic markers in these regions were genotyped for analysis on 36 Filipino families comprised of 126 affected and 218 unaffected individuals. An additional 70 families with 149 affecteds were used for replication of suggestive results. Parametric (LOD score) and nonparametric (SIMIBD) linkage analyses were performed as well as transmission disequilibrium test (TDT) analysis. Five markers yielded suggestive results from the 36 families. The parametric LOD scores for the MSX1‐CA and D4S1629 were >1.0 and the SIMIBD P values for D6S1029 and RFC1 are suggestive (<0.06), while the SIMIBD P value of 0.01 for TGFA was significant. Since the Msx1 mouse knockout has cleft palate and MSX1 mutations have been found in rare cases of syndromic CL/P, this locus is especially plausible for linkage. Previous studies have also found linkage of NS CL/P to 4q31 and 6p23. These regions contain several candidate genes, including AP2 at 6p23 and FGF2, BMPR1B, and MADH1 at 4q31. TGFA has both linkage and linkage disequilibrium data supporting it as a candidate gene for NS CL/P. While no region was definitively confirmed for linkage to NS CL/P, the data do support further investigation using larger sample sizes and candidate gene studies at 2p13.2, 4p16.2, 4q31, 6p23, and 16q22‐24. © 2003 Wiley‐Liss, Inc.
Association of chromosomal regions 3p21.2, 10p13, and 16p13.3 with nonsyndromic cleft lip and palate
Authors: Blanton Susan H. , Bertin Terry , Serna Maria E. , Stal Samuel , Mulliken John B. , Hecht Jacqueline T. 
Published: January 2004

AbstractApproximately 4,000 babies with nonsyndromic cleft lip with or without cleft palate (NSCLP) are born each year in the United States. Because NSCLP exhibits both etiologic and genetic heterogeneity, attempts to identify the underlying genetic causes have met with limited success and the pursuit of early promising findings have yielded mixed results. Two recent genomic scans identified a number of suggestive regions; some of these results have been supported by our lab and others in subsequent studies. Using our NSCLP multiplex family population, we were able to provide additional supportive evidence for association to the regions 2q37, 11p12‐14, 12q13, and 16p13.11‐p12 that were identified in the genomic scans. However, there remains a number of additional viable candidate genes and regions that have not been sufficiently investigated. These include chromosomal translocations in patients with NSCLP, growth factor genes, metalloproteinase (MMP) and transcription factor (patterning) genes, including those in the WNT family. Here, we present results from screening the 10p13 chromosomal translocation region associated with NSCLP, MMP genes clustered on chromosomes 1p36, 11q22.3, 16p13.3, and 16q12‐13, and the region containing the WNT5A gene on chromosome 3p21. Markers from three of the regions, 10p13, 16p13.3 (MMP25), and 3p21.2, yielded findings that are sufficiently significant to warrant closer investigation. © 2003 Wiley‐Liss, Inc.
Post‐natal short stature, short limbs, brachydactyly, facial abnormalities, and delayed bone age: A new syndrome?
Authors: Mégarbané André , Rassi Simon , Estephan Farid , Kouba‐Hreich Edith 
Published: January 2004

AbstractA boy is described with clinical features including post‐natal short stature, short limbs, speech delay, relatively large skull, prominent metopic ridge, wide palpebral fissures, proptosis, epicanthic folds, capillary hemangioma between the eyes and nose, flat nasal bridge, everted and small nares, small ears with a narrow external auditory canal and thick lobes, short neck, brachydactyly, bilateral Simian creases, a single flexion crease of the first and fifth fingers, protruding abdomen, and bilateral cryptorchidism. Radiographs did not show any features of bone dysplasia. However, a delayed bone age was noted. The boy's parents are first cousins. To the best of our knowledge, this constellation of anomalies has not been reported before, and may be considered a new syndrome. © 2003 Wiley‐Liss, Inc.
Physical activity and angiotensin‐converting enzyme gene polymorphism in mild hypertensives
Authors: Winnicki Mikolaj , Accurso Valentina , Hoffmann Michal , Pawlowski Ryszard , Dorigatti Francesca , Santonastaso Massimo , Longo Daniele , Krupa‐Wojciechowska Barbara , Jeunemaitre Xavier , Pessina Achille C. , Somers Virend K. , Palatini Paolo 
Published: January 2004

AbstractIt has been suggested that the insertion(I) allele of the I/deletion(D) polymorphism of the angiotensin converting enzyme (ACE) gene is associated with endurance exercise and increased physical conditioning in response to this type of exercise. To investigate the association between the ACE I/D polymorphism and physical activity status in 355 never treated, stage I hypertensives (265 men, 90 women, mean age: 33 ± 9 years), in whom power exercise is contraindicated, participants of the HARVEST study. Physical activity was assessed using a standardized questionnaire. BMI and age did not vary among genotypes. None of active subjects performed power oriented exercises. ACE I/D frequencies (II‐18%, ID‐55%, DD‐27%) were in Hardy–Weinberg equilibrium. Sedentary lifestyle was more common among DD than II hypertensives (76% in DD, and 48% in II, Chi2 = 13.9, P = 0.001). In stepwise MANOVA using age, marital status, profession, sex, and ACE genotype as predictors of physical activity, marital status (F = 24.4, P < 0.0001) and ACE genotype (F = 16.03, P < 0.0001) contributed to more than 50% of the variance in physical activity status of the population. Our results suggest that the ACE I/D polymorphism may be a specific genetic factor associated with physical activity levels in free‐living borderline and mild hypertensive subjects. © 2003 Wiley‐Liss, Inc.
Mutations in the optineurin gene in Japanese patients with primary open‐angle glaucoma and normal tension glaucoma
Authors: Toda Yoshiki , Tang Sa , Kashiwagi Kenji , Mabuchi Fumihiko , Iijima Hiroyuki , Tsukahara Shigeo , Yamagata Zentaro 
Published: January 2004

AbstractThe optineurin gene (OPTN) was identified as a gene that causes primary open‐angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single‐strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes. © 2003 Wiley‐Liss, Inc.