bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hypothermia‐induced platelet aggregation in heparinized flowing human blood: Identification of a high responder subpopulation
Authors: Hall Matthew W. , Goodman Paul D. , Alston Steven M. , Solen Kenneth A. 
Published: August 2002

AbstractCold‐induced platelet aggregation (CIPA) in PRP has previously been documented in connection with platelet preservation (4–15°C). This report describes hypothermia‐induced platelet aggregation (HIPA) in whole blood and at temperatures used in open‐heart surgery (24–32°C). HIPA (specifically, the formation of occlusive aggregates) was studied in human whole blood. Fresh heparinized (1.5 U/ml) human blood was cooled and maintained at target temperatures (15, 20, 24, 28, 32, or 37°C) as it flowed (1 ml/min) through 75‐cm long 1/32″ internal diameter polymer conduit. The formation of aggregates in the tubing was verified using optical video microscopy and was quantified by a light‐scattering method and a constant‐pressure filtration method. Donors were tested at least twice at each target temperature and were classified into three separate response regimes (Low, Medium, and High) on the basis of the number of aggregates and the duration of their appearance. The screening of 121 donors (average age 22.3 ± 4.3 years) for HIPA at 24°C (the temperature of maximum response) indicated 14% High Responders, 18% Medium Responders, and 68% Low Responders. HIPA was inhibited by EDTA, citrate, PGE1, and Tirofiban, but not by aspirin, and it was enhanced by elevated heparin levels. HIPA was consistently noted in the blood of a subpopulation of donors, and the associated platelet aggregates in the blood of High Responders were rigid and occlusive. It is postulated that such aggregates may contribute to cognitive dysfunction noted in patients undergoing hypothermic open‐heart surgery, and that postulus is being investigated. Am. J. Hematol. 69:45–55, 2002. © 2002 Wiley‐Liss, Inc.
Early onset of acute immune‐mediated lung injury in a child undergoing allogeneic peripheral blood transplantation
Authors: Sevilla Julián , González‐Vicent Marta , Madero Luis , González‐Mediero Imelda , Díaz Miguel A. 
Published: August 2002

AbstractAnimal models have recently clarified the lung injury after allogeneic hematopoietic transplantation. These works have confirmed the role of donor T lymphocytes in immune‐mediated inflammatory reactions in the lung. We report here a fatal case of a 3‐year‐old child who developed acute respiratory failure coinciding with the onset of hyper‐acute graft versus host disease (aGVHD) after allogeneic peripheral stem cell transplantation. aGVHD was refractory to treatment and the patient died on day +28. Lung necropsy showed interstitial pneumonia and peribronchial and perivascular infiltration by mononuclear cells, with no viral inclusions. These findings are not specific but have been found by some authors in animal models with acute immune‐mediated lung injury related with donor T lymphocytes. Immune‐mediated lung injury, as defined by animal models, should be considered in patients with severe signs of systemic aGVHD while excluding other known etiologies of pulmonary disease. Am. J. Hematol. 69:56‐58, 2002. © 2002 Wiley‐Liss, Inc.
Autoimmune hemolytic anemia
Authors: Gehrs Bradley C. , Friedberg Richard C. 
Published: August 2002

AbstractRed blood cell (RBC) autoantibodies are a relatively uncommon cause of anemia. However, autoimmune hemolytic anemia (AIHA) must be considered in the differential diagnosis of hemolytic anemias, especially if the patient has a concomitant lymphoproliferative disorder, autoimmune disease, or viral or mycoplasmal infection. Classifications of AIHA include warm AIHA, cold agglutinin syndrome, paroxysmal cold hemoglobinuria, mixed‐type AIHA, and drug‐induced AIHA. Characteristics of the autoantibodies are responsible for the various clinical entities. As a result, diagnosis is based on the clinical presentation and a serologic work‐up. For each classification of AIHA, this review discusses the demographics, etiology, clinical presentation, laboratory evaluation, and treatment options. Am. J. Hematol. 69:258–271, 2002. © 2002 Wiley‐Liss, Inc.
Severe hypophosphatemia: A rare cause of intravascular hemolysis
Authors: Melvin Jennifer D. , Watts Raymond G. 
Published: August 2002

AbstractA 3‐year‐old child presented with severe hyperphosphatemia (phosphate 45 mg/dL) secondary to chronic enema use. Following aggressive correction of the hyperphosphatemia, hypophosphatemia ensued (phosphate 1.7 mg/dL). Concurrently, the patient developed severe intravascular hemolysis and RBC morphologic defects. The hemolysis and morphologic defects corrected with return to normal serum phosphate levels. Severe hypophosphatemia is a rare cause of intravascular hemolysis. Am. J. Hematol. 69:223–224, 2002. © 2002 Wiley‐Liss, Inc.
Therapeutic choices for patients with hemophilia and high‐titer inhibitors
Authors: Kulkarni Roshni , Aledort Louis M. , Berntorp Erik , Brackman Hans H. , Brown Deborah , Cohen Alan R. , Ewing Nadia P. , Gringeri Alessandro , Gruppo Ralph , Hoots Keith , Leissenger Cindy , Peerlinck Katheliijne , Poon Man‐Chiu , Wong Wing‐Yen 
Published: August 2002

AbstractEffective treatment of bleeding episodes in hemophilia with high titer inhibitors (HTI) remains a challenge, despite the fact that the therapeutic armamentarium has expanded considerably over the past few years. Treatment safety has improved with the availability of porcine factor VIII (FVIII) and bypassing products such as recombinant factor VIIa (rFVIIa), and plasma‐derived activated Prothrombin Complex Concentrates (aPCCs) that are virally inactivated. The major drawbacks of rFVIIa and aPCCs are their unpredictable hemostatic effect, lack of laboratory assays to monitor efficacy and dosing frequency, and the risk of thrombosis. The proceedings of a one‐day workshop of physicians who specialized in treating patients with hemophilia held in Vienna on May 13, 2000 have been summarized. In making a decision regarding the choice of product, physicians often consider the type of bleeding episode (life or limb threatening), age of the patient, volume of the reconstituted product, previous exposure to plasma derived products, cost, efficacy, and safety. For plasma naïve patients, to achieve rapid hemostasis a majority of the panelists used porcine FVIII (for patients who lack porcine inhibitory antibodies) or rFVIIa. For patients previously treated with plasma derived factors, in addition to the above concentrates, aPCCs were recommended. Although no data exists regarding safety and efficacy, switching products was routinely practiced either because of availability or cost. Furthermore, the panelists were uncertain about the efficacy of bypassing agents in the prevention of joint disease in inhibitor patients. The workshop participants felt that future research offers the best solution to resolve some of the dilemmas faced by clinicians and may help individualise treatment in a hemophilia patient with a high titer inhibitor. Am. J. Hematol. 67:240–246, 2001. © 2001 Wiley‐Liss, Inc.
Spectrum of β‐thalassemia in Jordan: Identification of two novel mutations
Authors: Sadiq M.F. , Eigel A. , Horst J. 
Published: August 2002

AbstractTwo hundred and forty‐four β‐thalassemia alleles were identified from 135 unrelated occasionally and periodically transfusion dependent β‐ and S/β‐thalassemia patients from all regions of Jordan. Allele identification was achieved by PCR amplification of β‐globin genes, dot‐blotting the amplified DNA, hybridization with allele specific synthetic probes, and direct sequencing of amplified genomic DNA. A total of 19 different mutations were detected, eight of them constituted about 86% of the Jordanian thalassemic chromosomes. These mutations were IVS1‐110 (G>A) (25%), IVS2‐1 (G>A) (15%), IVS2‐745 (C>G) (14.2%), IVS1‐1 (G>A) (10%), IVS1‐6 (T>C) (8.3%), codon 37 (G>A) (6.3%), codon 39 (C>T) (4.6%), and codon 5 (‐C) (3.8%). The remaining eleven mutations were rare, presented with frequencies ranging between 0.4% and 1.6%. These included two novel mutations and four others detected in Jordan for the first time. The novel mutations were the frame shift (‐C) at codon 49 and the substitution (A>C) at position −29 in the TATA box. Four alleles (1.6%) remained unidentified; having no abnormalities in their β‐globin gene sequences and therefore, constituted additional defects causing β‐thalassemia in the Jordanian population. These unknown alleles are expected to be candidates for upstream or downstream mutations affecting the expression of β‐globin gene. The results provided the essential foundation for planning a national preventive program for thalassemia in Jordan and will help improving the medical services for the patients and their families by helping their clinicians and genetic counselors in evaluating their variants and designing their treatment regimens. Am. J. Hematol. 68:16–22, 2001. © 2001 Wiley‐Liss, Inc.
Are there ethnic differences in sleep architecture?
Authors: Profant Judi , Ancoli‐Israel Sonia , Dimsdale Joel E. 
Published: August 2002

AbstractThe possibility of ethnic differences in sleep architecture was initially examined in conjunction with studies of sleep apnea (study 1). This possibility was then examined in another cohort of patients to determine whether the results might generalize (study 2). Polysomnography was obtained in both cohorts as part of larger protocols investigating sympathetic nervous system activity, blood pressure, and sleep. Sleep monitoring took place in an inpatient clinical research center of a university hospital. Study 1 focused on sleep apnea physiology and involved volunteers with sleep apnea who were otherwise healthy. Study 2 focused on differences in stress reactivity between American Black and White subjects and involved hypertensive and normotensive volunteers who were otherwise healthy. Analyses include 61 participants from study 1 and 35 participants from study 2. Ethnicity in both cohorts was determined by self‐report. Participants in both studies were monitored during sleep with traditional polysomnography including electroencephalography (EEG), electromyography (EMG), electrooculography (EOG), and oximetry. In Study 1, Blacks had longer TST (P < 0.01), more REM sleep (P < 0.05), and less WASO (P < 0.05) than Whites. After controling for RDI, Blacks had longer TST and spent a smaller percentage of time in deep sleep (P < 0.05). In study 2, Blacks had longer TST and REM sleep, lower percent deep sleep, and lower percent deep sleep controling for RDI (P < 0.05). In two separate studies, Blacks had longer TST, more minutes of REM, and lower percentage deep sleep. These findings suggest possible ethnic differences in sleep architecture. Am. J. Hum. Biol. 14:321–326, 2002. © 2002 Wiley‐Liss, Inc.
Infants thinner at birth exhibit smaller kidneys for their size in late gestation in a sample of fetuses with appropriate growth
Authors: Lampl Michelle , Kuzawa Christopher W. , Jeanty Philippe 
Published: August 2002

AbstractFetal ultrasound measurements were employed to investigate the relationship between weight and ponderal index at birth and kidney size during the second (23 weeks) and third (32 weeks) trimesters of pregnancy in a sample of 25 normally growing fetuses. Kidney volume and kidney volume / fetal weight ratio at 32 weeks are significantly and positively related to both weight and ponderal index at birth, controlling for sex, gestational age at birth, and day of ultrasound measurement. A second‐degree polynomial relationship approximates the predictability of kidney volume fetal weight ratio at 23 weeks to that at 32 weeks, demonstrating shifting growth rates in fetal organ and body growth relationships during midgestation. Sex and parental size are suggested as contributing to these patterns. Females have a surge in renal growth between 23 and 32 weeks to catch up to earlier growing males, and maternal weight significantly predicts incremental growth in kidney volume and the kidney volume / fetal weight ratio at 32 weeks of gestation. The observation that fetuses relatively thin at birth have relatively smaller kidneys for their size in late gestation suggests that the influence of maternal weight on birth outcome may act through organ growth. Am. J. Hum. Biol. 14:398–406, 2002. © 2002 Wiley‐Liss, Inc.
Child factor in measurement dependability
Authors: Lampl Michelle , Birch Leann , Picciano Mary Frances , Johnson Michael L. , Frongillo Edward A. 
Published: August 2002

AbstractA primary consideration in longitudinal growth studies is the identification of growth from error components. While previous research has considered matters of measurement accuracy and reproducibility in detail, few reports have investigated the errors of measurement due to aspects of the physiology and cooperation of the child. The present study directly assesses this source of measurement undependability for the first time. Investigation of total measurement error variance in 925 recumbent length replicates taken over stasis intervals in growth identifies that between 60% and 70% of total measurement unreliability is due to a child factor undependability. Individual differences are significant and longitudinal growth analyses should consider two to three times the technical error of measurement statistic as a reasonable estimate of the total unreliability for any single measurement of an infant's recumbent length. These results raise issues regarding analytic methods as applied to serial growth data. Am. J. Hum. Biol. 13:548–557, 2001. © 2001 Wiley‐Liss, Inc.
Transmission disequilibrium studies of the serotonin 5‐HT2A receptor gene (HTR2A) in autism
Authors: Veenstra‐VanderWeele Jeremy , Kim Soo‐Jeong , Lord Catherine , Courchesne Rachel , Akshoomoff Natasha , Leventhal Bennett L. , Courchesne Eric , Cook Edwin H. 
Published: August 2002

AbstractHyperserotonemia in autism is one of the longest‐standing biochemical findings in a psychiatric disorder. This well‐replicated finding and subsequent studies of platelet serotonin receptors in autism indicate that the serotonin 2A receptor gene (HTR2A) on chromosome 13q is a primary candidate gene in autism. Converging data from recent genome screens also implicates the genomic region containing HTR2A. Based on these lines of evidence, the transmission/disequilibrium test (TDT) was used to assess transmission disequilibrium between autism and haplotypes of three polymorphisms, including the promoter ‐1438 G/A single nucleotide polymorphism (SNP) in perfect linkage disequilibrium with the 102 T/C SNP in previous studies, a newly identified SNP in intron 1 near exon 2, and the SNP responsible for the His452Tyr amino acid change in exon 3. Because expression studies have shown HTR2A to be polymorphically imprinted in the brain, secondary analyses were split into maternal and paternal transmissions. No evidence was found for unequal transmission of haplotypes; however, power analysis reveals low power to detect a parent‐of‐origin effect in this sample size. © 2002 Wiley‐Liss, Inc.
De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly
Authors: Aboura A. , Coulomb‐L'Herminé A. , Audibert F. , Capron F. , Frydman R. , Tachdjian G. 
Published: August 2002

AbstractInterstitial duplications of chromosomal region 1q are rarely seen. We report the first prenatal diagnosis of pure partial trisomy 1q. The fetus was karyotyped for polyhydramnios, micrognathia, and flexion of fingers of both hands. Conventional and molecular cytogenetics showed a de novo direct duplication of the chromosomal region 1q23.1q31.1 leading to a partial trisomy 1q. At autopsy, the fetus showed Pierre Robin sequence (PRS) and camptodactyly. The main histological finding was a decreased number of motoneurons with apoptotic features in the anterior horn of the spinal cord. A literature review and our observations suggest that genetic material mapping to chromosome 1q25 could be responsible for PRS with distal arthrogryposis when this is in triple dose. © 2002 Wiley‐Liss, Inc.
Phenotypic variation in Melnick‐Needles syndrome is not reflected in X inactivation patterns from blood or buccal smear
Authors: Kristiansen Marianne , Knudsen Gun Peggy , Søyland Anne , Westvik Jostein , Ørstavik Karen Helene 
Published: August 2002

AbstractMelnick‐Needles syndrome is a rare putative X‐linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S‐shaped curvature of tubular bones and sclerosis of the base of the skull. The phenotype of affected individuals varies, even within families. This could be related to X chromosome inactivation. We report here on a very mildly affected mother and her two severely affected daughters with characteristic features of Melnick‐Needles syndrome. In addition, the two daughters had very similar pigmented nevi on their back. X chromosome inactivation analysis of blood DNA revealed a skewed X inactivation pattern in all three affected females, with the normal X chromosome as the predominating active X chromosome. The X inactivation pattern was similar in buccal smear and blood DNA in the mother and one of the daughters, whereas the other daughter had a skewed pattern in blood only. X chromosome inactivation in blood and buccal smear DNA therefore does not explain the phenotypic variation in this family. The skewed X chromosome inactivation is in agreement with X‐linked inheritance of Melnick‐Needles syndrome and suggests a critical role of the Melnick‐Needles gene in hematopoietic cell proliferation. Clinical evidence indicates that Melnick‐Needles syndrome is allelic to the otopalatodigital syndromes, which have been assigned to Xq26‐28. Haplotype analysis of the X chromosomes in this family was in agreement with the localization of the gene for Melnick‐Needles syndrome to Xq25‐qtel. © 2002 Wiley‐Liss, Inc.
Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay
Authors: Levy Brynn , Jalal Syed M. , Dunn Teresa M. , Warburton Peter E. , Tonk Vijay S. , Hirschhorn Kurt , Lockhart Lillian H. , Hughes T. , Velagaleti Gopalrao V.N. 
Published: August 2002

AbstractA five‐year‐old Caucasian male presented with developmental delay, minor dysmorphic features, and hyperactivity. Cytogenetic analysis showed the presence of a marker chromosome in the majority of cells analyzed. Fluorescence in situ hybridization (FISH) analyses using several alpha satellite probes, including D13Z1/D21Z1, did not reveal any signal on the marker chromosome. Subsequent multicolor FISH (M‐FISH) indicated the marker to be derived from chromosome 13, and FISH with a chromosome 13 paint confirmed this finding. The absence of D13Z1/D21Z1 signal on the marker suggested that it was analphoid in nature. Comparative genomic hybridization (CGH) was utilized to further characterize the region of chromosome 13 from which the marker originated, and unexpectedly revealed a gain of chromosomal material at both the centromeric regions of chromosomes 3 and 13. In view of the CGH results, extensive FISH studies with D3Z1 and D13Z1/D21Z1 were performed and revealed the presence of four cell lines comprising one normal cell line (50.5%), a cell line with a chromosome 3 derived marker (19%), a cell line containing a marker derived from chromosome 13 (20%), and a cell line with both markers (10.5%). As the two markers appeared morphologically similar by GTG banding, all 47,XY metaphases in the initial analysis were thought to comprise only a single marker. This is the first report, to our knowledge, of the presence of a chromosome 3 and a chromosome 13 marker in mosaic condition in a congenital disorder. In light of our experience, we urge caution in interpreting karyotypes with marker chromosomes. Our case illustrates the limitations of fluorescent DNA probes and sampling errors. © 2002 Wiley‐Liss, Inc.
Potentially functional polymorphism in the promoter region of prodynorphin gene may be associated with protection against cocaine dependence or abuse
Authors: Chen Andrew C.H. , LaForge K. Steven , Ho Ann , McHugh Pauline F. , Kellogg Scott , Bell Kathy , Schluger Rosemary P. , Leal Suzanne M. , Kreek Mary Jeanne 
Published: August 2002

AbstractIt has been demonstrated that the opioid peptide dynorphin plays a role in modulating responses to several psychoactive substances including cocaine. Our laboratory and others have found that mRNA levels of dynorphin in the caudate and putamen are elevated after acute or chronic cocaine exposure in rats. Recently, a 68‐base pair (bp) repeat polymorphism within the core promoter region of the human prodynorphin gene has been reported to occur in alleles containing one, two, three, or four copies. This repeat contains a putative AP‐1 transcription factor binding site; reporter gene constructs with three or four, but not one or two, copies of the tandem repeats were shown to be associated with increases in transcriptional activation in in vitro cellular assays. We hypothesize that this polymorphism may be associated with individual differences in vulnerability to cocaine dependence or abuse. From an ongoing study of the genetics of addiction, 174 subjects were studied, including individuals with a primary diagnosis (DSM‐IV criteria) of cocaine dependence (N = 61) or abuse (N = 22), and controls with no history of any substance dependence or abuse (N = 91). We designed primers for polymerase chain reaction (PCR) to amplify sequences of the promoter region of the prodynorphin gene containing the repeat element. The association of alleles containing three or four repeats with cocaine dependence/abuse was examined. With data stratified by ethnic group, pooled relative risk (RR) with Mantel‐Haenszel Chi square was calculated: RR = 0.59 (95% confidence interval 0.37–0.95), χ2(1) = 4.14, P = 0.042. Our results suggest that this allelic variation at the promoter region of the prodynorphin gene (alleles with three or four repeats), which may result in enhanced transcription of the gene, may contribute to relative protection and decrease individual vulnerability to develop cocaine dependence or abuse. © 2002 Wiley‐Liss, Inc.
Identification of three polymorphisms in the translated region of PLC‐γ1 and their investigation in lithium responsive bipolar disorder
Authors: Ftouhi‐Paquin Nouzha , Alda Martin , Grof Paul , Chretien Nathalie , Rouleau Guy , Turecki Gustavo 
Published: August 2002

AbstractRecently, we have found an association between bipolar disorder patients who are excellent responders to lithium prophylaxis and a polymorphic marker located in the first intron of the phospholipase C‐γ1 gene (PLC‐γ1) [Turecki et al., 1998: Mol Psychiatry 3:534‐538]. As this variant is not known to be functional, we searched for other markers within the coding region, using single‐strand conformational polymorphism (SSCP) analysis. We have identified three polymorphic sites localized in three different exons of the PLC‐γ1 gene (exons 9, 26, 31). Variation studies of these potentially functional sites in a group of 133 bipolar patients with an excellent response to lithium prophylaxis and a comparison group of 99 healthy controls showed no difference in genotype distributions for exon 9 (chi‐square = 1.41, df = 2, P = 0.49), exon 26 (chi‐square = 2.26, df = 2, P = 0.13), or exon 31 (chi‐square = 1.41, df = 2, P = 0.49). Similar results were observed for allele distributions. These results suggest that our previous findings were not the result of linkage disequilibrium with these variants. © 2001 Wiley‐Liss, Inc.