bluuebunny/crossref_metadata_2025 huggingface dataset:
Statistical Modeling of Algae Concentrations in the Elbe River in the Years 1985—2001 Using Observations of Daily Dissolved Oxygen, Temperature, and pH
Authors: Romanowicz Renata , Petersen Wilhelm
Published: February 2004

The aim of the paper is the reconstruction of daily algae concentrations (chlorophyll‐a) in the middle stretches of the Elbe River (Schnackenburg station) during the years 1985—2001. These data are required to verify changes in biogeochemical processes before and after the reunification of Germany. Both linear regression and multiple input single output (MISO) stochastic transfer function (STF) approaches are used in data reconstruction. An analysis of available data sets is followed by the development of STF models based on different types of input data (pH, DO and temperature). The choice of model for reconstruction is based on the comparison of the results with monthly observations of algae concentrations at Schnackenburg during the years 1985—2001 and daily observations at Cumlosen in the years 1997—1999. The stochastic transfer function model based on DO concentrations and temperature gives the best fit to the data, followed closely by the model additionally using pH values as an input.
Determination of Trace Metals in the Freshwater Leech Erpobdella octoculata of the Elbe River — Evaluation of the Analytical Protocol
Authors: Friese Kurt , Frömmichen René , Witter Barbara , Müller Helmut
Published: February 2004

A composite procedure to determine heavy metals in the freshwater leech Erpobdella octoculata (L.) (Annelidae: Hirudinea) of the Elbe river has been developed. All stages of the analytical process were checked, including the sampling procedure, sample preparation, and validation of the analysis by inductively coupled plasma mass spectrometry (ICP‐MS) and atomic absorption spectrometry (AAS). The elements chromium, manganese, copper, zinc, cadmium, mercury, arsenic, and lead were determined. To ensure the quality of the results, the CRM NRC Dorm‐1 (dogfish muscle) and Nist 1643c (river water) were analyzed on a parallel basis. A first overview on recent contamination of leeches in the river Elbe (Germany) was gained with the newly developed procedure.
Induction of cytotoxic T lymphocytes by dendritic cells pulsed with murine leukemic cell RNA
Authors: Jung Chul Won , Kwon Jung Hye , Seol Jae Goo , Park Woo Hyun , Hyun Jung Mi , Kim Eun Shil , Kim Seung Taik , Lee Sang Jae , Kim Byoung Kook , Lee Young Yiul
Published: February 2004

Peptide‐pulsed dendritic cells can stimulate T cells showing specific cytotoxicity in chronic myelogenous leukemia. We tried to induce a specific cytotoxic T‐cell response stimulated by RNA‐pulsed dendritic cells in acute myelogenous leukemia. The total RNA of WEHI‐3BD+, a myelomonocytic leukemia cell line derived from BALB/c mice, was transfected into dendritic cells induced from bone marrow nucleated cells of BALB/c mice with granulocyte macrophage colony‐stimulating factor (GM‐CSF) and lipopolysaccharide (LPS) using liposome. RNA‐pulsed dendritic cells were injected into the peritoneal cavity of BALB/c mice, and splenic T cells were isolated for antigen‐stimulated proliferation and leukemia‐specific cytotoxicity assay. Cultured bone marrow nucleated cells expressed dendritic cell markers including MHC class II antigen, CD80, CD86, and CD11c. T cells stimulated by RNA‐pulsed dendritic cells showed enhanced proliferation than those stimulated by unpulsed dendritic cells (P = 0.05) and showed dose‐dependent specific cytotoxicity against WEHI‐3BD+ cells. We concluded total RNA‐pulsed dendritic cells could induce a specific T‐cell cytotoxicity in acute myelogenous leukemia. Am. J. Hematol. 75:121–127, 2004. © 2004 Wiley‐Liss, Inc.
Laparoscopic splenectomy for autoimmune hemolytic anemia in patients with chronic lymphocytic leukemia: A case series and review of the literature
Authors: Hill John , Walsh R. Matthew , McHam Scott , Brody Fred , Kalaycio Matt
Published: February 2004

The purpose of this study was to evaluate the safety and efficacy of laparoscopic splenectomy in patients with chronic lymphocytic leukemia (CLL) complicated by autoimmune hemolytic anemia. A series of nine such patients who underwent this procedure at our institution between August 1997 and September 2001 were retrospectively reviewed. Seven of 9 patients who underwent laparoscopic splenectomy for CLL and autoimmune hemolytic anemia achieved a complete response. One patient who initially responded relapsed 12 weeks postoperatively. Therefore, six of 9 patients showed sustained responses with a mean follow‐up of 2 years, consistent with other published series. Two patients had no response, one of whom died within 3 weeks of surgery from transformed Hodgkin's disease. The only other postoperative complication occurred in a patient who developed pneumonia. We conclude that laparoscopic splenectomy is a safe and effective treatment for autoimmune hemolytic anemia in patients with CLL who fail medical therapy. Am. J. Hematol. 75:134–138, 2004. © 2004 Wiley‐Liss, Inc.
Immune thrombocytopenia attributed to brucellosis and other mechanisms of Brucella‐induced thrombocytopenia
Authors: Pappas G. , Kitsanou M. , Christou L. , Tsianos E.
Published: February 2004

Thrombocytopenia often complicates the course of acute brucellosis, mainly due to bone marrow suppression or hypersplenism. Immune thrombocytopenia is also reported in brucellosis, resulting usually in massive thrombocytopenia, purpura, and spontaneous hemorrhage. We describe a case of acute brucellosis in an 85‐year old woman, who presented with fever, purpuric skin lesions, anemia, and rhinorrhagia. The absolute platelet count was 1000/μL. Direct and indirect Coombs tests were positive, and a cold‐agglutinin was detected. The patient was diagnosed as suffering from brucellosis on the basis of a strongly positive serologic reaction and was treated with doxycycline, streptomycin, and a short course of corticosteroids, with a rapid rise in platelet number. Am. J. Hematol. 75:139–141, 2004. © 2004 Wiley‐Liss, Inc.
Pure red cell aplasia associated with parvovirus B19 infection occurring late after allogeneic bone marrow transplantation
Authors: Hayes‐Lattin Brandon , Seipel Timothy J. , Gatter Ken , Heinrich Michael C. , Maziarz Richard T.
Published: February 2004

Differential diagnosis for anemia late after allogeneic stem cell transplantation is broad. In this report, we describe a case of severe anemia secondary to pure red cell aplasia associated with human parvovirus B19 infection over 8 years after allogeneic bone marrow transplantation. Characteristics of parvovirus B19 infection and the immunosuppressed state after allogeneic stem cell transplantation are reviewed. Am. J. Hematol. 75:142–145, 2004. © 2004 Wiley‐Liss, Inc.
Acquired amegakaryocytic thrombocytopenia purpura and eosinophilic fasciitis: A long relapsing and remitting course
Authors: Chaudhary Uzair B. , Eberwine Stephen F. , Hege Kristen M.
Published: February 2004

Acquired amegakaryocytic thrombocytopenia purpura (AATP) is a rare disorder of unclear etiology characterized by severe thrombocytopenia, preservation of erythroid and myeloid cell lines, and absence of megakaryocytes in the bone marrow. We report herein a patient who developed eosinophilic fasciitis preceding a diagnosis of AATP. Longitudinal follow‐up and treatment of this individual show a relapsing and remitting disease course which appears closely related to the dosing of cyclosporine. Later in the treatment course, dosing of anti‐thymocyte globulin (ATG) appeared to have important beneficial contributions in the management of this patient's disease. Am. J. Hematol. 75:146–150, 2004. © 2004 Wiley‐Liss, Inc.
Aquaporin expression in human lymphocytes and dendritic cells
Authors: Moon Chulso , Rousseau Raphael , Soria Jean‐Charles , Hoque Mohammad Obaidul , Lee Juna , Jang Se Jin , Trink Barry , Sidransky David , Mao Li
Published: February 2004

Aquaporins (AQPs) are molecular water channels, and 10 related AQPs have been identified in mammals. So far, the study of mammalian AQP expression has been limited mainly to mice and rat lung, kidney, brain, and gastrointestinal tract. Although AQP3 and AQP7 have been shown to be involved in volume‐regulating mechanisms in dendritic cells, the exact patterns of AQP expression in the human immune system are not well understood. Using reverse transcriptase‐polymerase chain reaction (RT‐PCR) analysis of peripheral blood from healthy donors, we demonstrated the expression of AQP1, AQP3, and AQP5 in activated B and T lymphocytes and the expression of AQP3 and AQP5 in immature dendritic cells. None of the tested AQPs was expressed in inactivated B or T lymphocytes. In situ hybridization studies using human tonsils showed that AQP1, AQP3, and AQP5 were expressed almost exclusively in the germinal centers. Further in situ hybridization showed that expression of AQP1, AQP3, and AQP5 were detected in tumor‐infiltrating lymphocytes surrounding bronchogenic carcinoma of the lung and that expression of AQP3 and AQP5 was detected in dendritic cells. These findings provide new insights into the expression patterns of AQPs in the human immune system. While the exact role of AQPs in the human immune system remains to be determined, we propose that AQP expression patterns may be used as a marker to study lymphocyte activation and proliferation. Am. J. Hematol. 75:128–133, 2004. © 2004 Wiley‐Liss, Inc.
Association of glucose‐6‐phosphate dehydrogenase deficiency and X‐linked chronic granulomatous disease in a child with anemia and recurrent infections
Authors: Agudelo‐Flórez Piedad , Costa‐Carvalho Beatriz T. , Alvaro López Juan , Redher Jussara , Newburger Peter E. , Olalla‐Saad Sara Teresinha , Condino‐Neto Antonio
Published: February 2004

Patients with severe leukocyte G6PD deficiency may present with impairment of NADPH oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U/g Hb (normal: 12.1 ± 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein‐Barr virus‐transformed B‐lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G→A mutation, the A− variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X‐linked CGD. Sequence analysis of genomic DNA showed a 264 G→A substitution at the 3′ splice junction of gp91‐phox exon 3. The cDNA sequence showed a deletion of gp91‐phox exon 3, giving rise to an unstable or nonfunctional mutant gp91‐phox and to the phenotype of X‐linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease. Am. J. Hematol. 75:151–156, 2004. © 2004 Wiley‐Liss, Inc.
Double leukemias simultaneously showing lymphoblastic leukemia of the bone marrow and monocytic leukemia of the central nervous system
Authors: Ikarashi Yukie , Kakihara Toshio , Imai Chihaya , Tanaka Atsushi , Watanabe Akihiro , Uchiyama Makoto
Published: February 2004

A rare case of different leukemias simultaneously occurring in the bone marrow (BM) and the central nervous system (CNS) was encountered. A 4‐year‐old girl was diagnosed with acute lymphoblastic leukemia and achieved a complete remission with chemotherapy. Two years after diagnosis, she was found to have acute monocytic leukemia at first relapse in the BM. One month after the second course of induction therapy, lymphoblastic leukemia in the BM and monocytic leukemia in the CNS were found simultaneously. Chromosomal analysis of leukemia cells in the BM and CNS showed distinct results. The mechanism of double leukemias occurring was obscure, although a lineage switch, therapy‐related, or de novo leukemia could be considered as possibilities. Double leukemias should be kept in mind when leukemias relapse in several sites. Am. J. Hematol. 75:164–167, 2004. © 2004 Wiley‐Liss, Inc.
Co‐inheritance of Hb Pak Num Po, a novel α1 gene mutation, and α0 thalassemia associated with transfusion‐dependent Hb H disease
Authors: Viprakasit Vip , Tanphaichitr Voravarn S. , Veerakul Gavivann , Chinchang Worrawut , Petrarat Siripan , Pung‐Amritt Parichat , Higgs Douglas R.
Published: February 2004

Hb H disease is generally associated with moderate to severe anemia but rarely requires regular blood transfusion. We recently studied two apparently unrelated patients with transfusion‐dependent Hb H disease. Hemoglobin studies demonstrated Hb H and Hb Bart's without other detectable abnormal globin species. Extensive molecular analyses of the α globin genes and their regulatory sequence (HS‐40) revealed that both patients are compound heterozygotes for α0 thalassemia (−−SEA) and a novel point mutation, a thymidine insertion after codon 131 of the α1 gene. The resulting frameshift gives rise to a highly unstable α globin chain, which we refer to as “Hb Pak Num Po,” containing an additional 34 amino acids. This unusual α1 globin variant clearly causes α thalassemia, but the unexpectedly severe phenotype suggests that this mutation may have additional effects on red cell physiology. A PCR‐based (ARMS) assay was developed for rapid detection of this novel mutation, and this might be useful to study the prevalence of this novel mutation which poses potentially significant clinical consequences in populations of Southeast Asia. Detecting carriers of this mutation using the molecular diagnostic procedures described will provide the means to screen and prevent a potentially severe form of α thalassemia in Thailand. Am. J. Hematol. 75:157–163, 2004. © 2004 Wiley‐Liss, Inc.
γδ T‐cell large granular lymphocyte (LGL) leukemia with spontaneous remission
Authors: Shichishima Tsutomu , Kawaguchi Michiko , Ono Nobutaka , Oshimi Kazuo , Nakamura Naoya , Maruyama Yukio
Published: February 2004

T‐cell large granular lymphocyte (LGL) leukemia is a clonal disorder with an indolent clinical course. In July 1995, a 46‐year‐old Japanese man was admitted to our hospital because his anemia had progressed. He had a white blood cell count of 3.9 × 109/L with 75% lymphocytes, which were intermediate to large and had almost round nuclei and azurophilic granules, and anemia with a red blood cell count (RBC) of 2.69 × 1012/L, hemoglobin (Hb) of 9.5 g/dL, and hematocrit (Hct) of 28.3%. Electron microscopic examination showed that most of the lymphocytes had a parallel tubular array and dense core granules in their cytoplasm. Flow cytometry and Southern blotting of the T‐cell antigen receptor (TCR) genes using the peripheral blood species showed monoclonal proliferation of LGLs with a CD3+, TCRγδ+, CD4−, CD8−, CD16+, CD56−, CD57−, HLA‐DR+ phenotype, and a TCR γ gene rearrangement, respectively, suggesting that the patient was diagnosed as having γδ T‐cell LGL leukemia. He had no symptoms, organomegaly, or skin lesions. About 1.5 years after diagnosis, the anemia gradually improved with disappearance and appearance of a rearranged band in the TCR‐γ gene and TCR‐β gene, respectively. About 7 years after diagnosis, the anemia improved completely with a RBC of 5.01 × 1012/L, Hb of 14.8 g/dL, and Hct of 44.3%, and he was in complete remission without TCR‐β and ‐γ gene rearrangements. He had received no therapy. This is the first report of spontaneous remission of γδ T‐cell LGL leukemia. Am. J. Hematol. 75:168–172, 2004. © 2004 Wiley‐Liss, Inc.
Patient follow‐up is a major problem at genetics clinics
Authors: Esmer Carmen , Urraca Nora , Carnevale Alessandra , Del Castillo Victoria
Published: February 2004

Children with genetic diseases must be followed for long periods of time to seek new findings. Other patients require further check‐ups and studies to be diagnosed. Some patients never return for medical care after the first consultation, which may have serious consequences. We reviewed 400 medical charts of patients with genetic disease to analyze overall attendance to the genetics clinic, investigate some of the causes of failure to seek medical advice, and determine the differences between those first seen as outpatients or as inpatients. The mean follow‐up period was 8.3 months (range 0–79), and the average number of visits was 2.8 (range 1–16). Forty eight percent of the cases first seen as inpatients were evaluated only once and 14% twice; while 22 and 21% of the 300 cases first seen as outpatients attended once and twice, respectively (P = 0.0). Appointment keeping was apparently not affected by the presence or absence of diagnosis. Overall, 97 patients were discharged, 7 died, 55 continued on follow‐up, 62 attended other hospital services—but not genetics—and 179 were completely lost to follow‐up. Diagnosed patients were counseled more frequently than undiagnosed patients (62 vs. 5%); and 71% of the diagnosed patients first seen as outpatients but only 36% of undiagnosed cases first seen as inpatients were counseled, differences between these two groups were significant (P = 0.005). We conclude that keeping the patient with genetic disease on follow‐up is a difficult task. New educational strategies must be planned to improve this worrisome situation. © 2003 Wiley‐Liss, Inc.
Human disorganization complex, as a polytopic blastogenesis defect: A new case
Authors: Delgado Luengo Wilmer Noé , Luisa Hernández Rodríguez María , Valbuena Pirela Ivonne , González Ferrer Sandra , Estrada Corona Pedro , Chacón Fonseca Inara , Delgado Luengo Juana , Morales‐Machín Alisandra , Borjas Fuentes Lisbeth , Caridad Martínez Basalo María , Chacín José
Published: February 2004

We describe a baby girl of 4,000 g and 55 cm with supernumerary, malformed, and partially duplicated lower limbs, malformed and partially duplicated pelvis, spina bifida, coccygeal dermal sinus, ectopic anus located in the right buttock, duplicated internal genitalia, rectovaginal fistula, ileal atresia, Meckel diverticulum, and various renal system anomalies. We think that this phenotype is a new case of disorganization in humans (DsH) and postulate that this condition constitutes a polytopic defect of the blastogenesis. In this case, the presence of a malformation pattern involving structures in different parts of the body and organs derived from all of the germ layers, suggests that the pathogenetic event most probably occurred during blastogenesis affecting various progenitors fields. © 2003 Wiley‐Liss, Inc.
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS
Authors: Hitchins Megan P. , Rickard Sarah , Dhalla Fatima , de Vries Bert B.A. , Winter Robin , Pembrey Marcus E. , Malcolm Sue
Published: February 2004

Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss‐of‐function mutations of the UBE3A gene have been identified in ∼8% of AS cases, failing to account for the remaining patient population, and there appears to be a higher prevalence of mutations in familial than sporadic cases. We screened UBE3A in 45 index cases of AS without obvious 15q11‐13 abnormalities. Pathological mutations were identified in 3/6 (50%) familial and 4/39 (>10%) sporadic cases. By combining our data with those of the literature, we demonstrate statistically that the frequency of UBE3A mutations is significantly higher in the familial than sporadic subsets of AS. This indicates that an independent molecular mechanism or ‘phenocopy’ exists for the sporadic group. Rett syndrome (RS), caused by mutations of the MECP2 gene, and patients with deletions of 22q13.3 → qter, have overlapping clinical features with AS. We screened 24 of the sporadic AS cases without detectable UBE3A mutations for mutations of MECP2, but found none. A separate cohort of 43 atypical patients with features common to AS and RS, in whom 15q11‐13 lesions and 22q13.3 → qter deletion had been ruled out, were also screened for MECP2 mutations. One male patient was mosaic for a frameshift mutation of this gene (previously reported). While MECP2 mutations can cause a phenotype reminiscent of AS in rare cases, they fail to account for the excess of sporadic patients with a definitive clinical diagnosis of AS. © 2003 Wiley‐Liss, Inc.
Translocation (Y;22) resulting in the loss of SHOX and isolated short stature
Authors: Borie C. , Léger J. , Dupuy O. , Hassan M. , Ledu N. , Lebbar A. , Czernichow P. , Eydoux P.
Published: February 2004

Chromosomal rearrangements involving both chromosome Y and chromosome 22 are rare, and may result in a number of different phenotypes. We report on a 4‐year‐old child with short stature and a dicentric chromosome with a deletion of the distal end of chromosome Yp. The pregnancy was uneventful, until intra‐uterine growth retardation was noted. Prenatal karyotyping showed a (Y;22) translocation. No structural fetal abnormality was shown at ultrasound examination, and the pregnancy went to term. A growth‐retarded boy with an otherwise normal physical examination was delivered at 39 weeks. At age 4, the child had short stature (−3 SD) without mental retardation. Radiological examination of the wrist was normal. A blood karyotype confirmed the chromosomal rearrangement previously seen on the amniotic fluid cells. C‐banding showed a dicentric chromosome, and fluorescence in situ hybridization (FISH) with centromeric probes confirmed the presence of both chromosome Y and 22 centromeres on the derivative chromosome. The karyotype was thus 45,X,der(Y;22)(p11;q11)del(Y)(p11p11). Our patient's phenotype and chromosomal rearrangement prompted us to further investigate the distal Yp region. FISH using a subtelomeric probe showed a deletion of the distal Yp region. This technique also revealed that this chromosomal rearrangement resulted in the deletion of SHOX but not SRY. Although haploinsufficiency of SHOX may result in Léri‐Weill Dyschondrosteosis, this diagnosis did not seem obvious in this young patient. This observation confirms the importance of FISH in the investigation of chromosomal abnormalities, and further delineates the phenotype of SHOX deleted patients. © 2003 Wiley‐Liss, Inc.
Analysis of neurofibromatosis 1 (NF1) lesions by body segment
Authors: Palmer Chana , Szudek Jacek , Joe Harry , Riccardi Vincent M. , Friedman J.M.
Published: February 2004

Café‐au‐lait spots and neurofibromas are defining features of neurofibromatosis 1 (NF1), but they vary greatly in number, size, and clinical importance from patient to patient. The cause of this variability is unknown. We tested the hypotheses that development of these lesions is influenced by local or familial factors. The presence or absence of café‐au‐lait spots, cutaneous neurofibromas, and diffuse plexiform neurofibromas was recorded for each of 10 divisions of the body surface in 547 NF1 patients, including 117 affected individuals in 52 families. We used stratified Mantel‐Haenszel tests to look for local associations between the presence of diffuse plexiform neurofibromas, cutaneous neurofibromas, and café‐au‐lait spots in individual body segments of NF1 patients. We used a random effects model to obtain intrafamilial correlation coefficients for the age‐adjusted number of body divisions affected with each of the three lesions. No significant association was observed between the occurrence of cutaneous and diffuse plexiform neurofibromas, between café‐au‐lait spots and cutaneous neurofibromas, or between café‐au‐lait spots and plexiform neurofibromas in the same body segment. The correlation among relatives in the number of body segments affected with café‐au‐lait spots was 0.45 (95% confidence interval [CI] = 0.18–0.71), with cutaneous neurofibromas, 0.37 (95% CI = 0.15–0.55), and with plexiform neurofibromas, 0.35 (95% CI = 0.15–0.57). We conclude that the development of café‐au‐lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors. © 2003 Wiley‐Liss, Inc.
Mitochondrial myopathy and sideroblastic anemia
Authors: Casas Kari A. , Fischel‐Ghodsian Nathan
Published: February 2004

We report four new cases of mitochondrial myopathy and sideroblastic anemia (MSA). Hallmark features of MSA include progressive exercise intolerance during childhood, onset of sideroblastic anemia around adolescence, basal lactic acidemia, and mitochondrial myopathy. Autosomal recessive inheritance of MSA in the family we describe is assumed due to the presence of two affected sibling pairs, unaffected parents, an unaffected sibling, and parental consanguinity. The nuclear families we describe are paternally related and originate from the same Iranian city as a family with MSA described by [Inbal et al., 1995]. These families provide an opportunity to clarify the molecular basis of tissue specific expression of mitochondrial disorders. © 2003 Wiley‐Liss, Inc.
Long‐term follow‐up of three individuals with Kabuki syndrome
Authors: Shalev Stavit A. , Clarke Lorne A. , Koehn David , Langlois Sylvie , Zackai Elaine H. , Hall Judith G. , Mcdonald McGinn Donna M.
Published: February 2004

Long‐term follow‐up of three individuals with Kabuki syndrome indicates their phenotype becomes less striking as adults. It is characterized by short stature, obesity, and relatively large head. Long palpebral fissures persist, as does mild to moderate mental retardation. Independent daily living skills are achieved but a sheltered living environment is needed. © 2003 Wiley‐Liss, Inc.
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia
Authors: Canki‐Klain Nina , Milic Astrid , Kovac Biserka , Trlaja Anuska , Grgicevic Damir , Zurak Niko , Fardeau Michel , Leturcq France , Kaplan Jean‐Claude , Urtizberea J. Andoni , Politano Luisa , Piluso Giulio , Feingold Josue
Published: February 2004

Mutations in the calpain 3 (CAPN3) gene are responsible for limb‐girdle muscular dystrophy (LGMD) type 2A. We report five causal mutations: 550delA, ΔFWSAL, R541W, Y357X and R49H found on 45/50 of alleles studied in 25 unrelated families from Croatia. The 550delA mutation was present on 76% of CAPN3 chromosomes that led us to screen general population for this mutation; 532 random blood samples from three different regions were analyzed using allele‐specific PCR. Four healthy 550delA heterozygous were found suggesting a frequency of 1 in 133. All four carriers detected originated from an island and mountain region close to the Adriatic Sea. These findings combined with haplotype analysis confirm that our general population is rather “closed” with a probable founder effect in some parts of the country. In addition, the high frequency of 550delA mutation found in some neighboring European countries together with the easy detection of the 550delA mutation should streamline genetic analysis, especially bearing in mind the geographic and ethnic origin of the patients. Our results, combined with published haplotype studies suggest that 550delA originated in the Eastern Mediterranean from which it has probably spread widely across Europe. Extending this study to other areas would help to address this epidemiological question. Our data are relevant to accurate genetic counseling and patient testing since we lack sensitive and specific biopsy screening methods for detecting patients with calpainopathy. Thus, detection of patients relies on the direct detection of gene mutation and our findings may be helpful in establishing diagnostic screening strategy. © 2003 Wiley‐Liss, Inc.
Genetic analysis of candidate loci in non‐syndromic cleft lip families from Antioquia‐Colombia and Ohio
Authors: Moreno Lina M. , Arcos‐Burgos Mauricio , Marazita Mary L. , Krahn Katherine , Maher Brion S. , Cooper Margaret E. , Valencia‐Ramirez Consuelo R. , Lidral Andrew C.
Published: February 2004

Non‐syndromic cleft lip with or without cleft palate (CL/P) is a genetically complex birth defect, with a prevalence from 1/500 to 1/1,000 live births. Evidence from linkage and linkage disequilibrium studies is contradictory suggesting that heterogeneity between study populations may exist. A recent report of a genome widescan in 92 sib pairs from the United Kingdom revealed suggestive linkage to 10 loci [Prescott et al.,2000]. The purpose of this study is to replicate those results and evaluate additional candidate genes in 49 Colombian and 13 Ohio families. Genotypes were obtained for STRPs at 1p36, 2p13 (TGFA), 4p16 (MSX1), 6p23‐25, 6q25‐27, 8q23‐24, 11p12‐q13, 12q13, 14q24 (TGFB3), 16q22‐24, 17q12‐21 (RARA), and Xcen‐q21. Linkage was performed using parametric (dominant and recessive models) and non‐parametric (GenehunterNPL and SimIBD) analyses. In addition, heterogeneity was analyzed using GenehunterHLOD, and association determined by the TDT. The Colombian families showed significant SimIBD results for 11p12‐q13 (P = 0.034), 12q13 (P = 0.015), 16q22‐24 (0.01), and 17q12‐21 (0.009), while the Ohio families showed significant SimIBD results for 1p36 (P = 0.02), TGFA (P = 0.005), 6p23 (P = 0.004), 11p12‐q13 (P = 0.048) and significant NPL results for TGFA (NPL = 3.01,P = 0.009), 4p16 (MNPL = 2.07,P = 0.03) and 12q13 (SNPL = 3.55,P = 0.007). Significant association results were obtained only for the Colombian families in the regions 1p36 (P = 0.046), 6p23‐25 (P = 0.020), and 12q13 (P = 0.046). In addition several families yielded LOD scores ranging from 1.09 to 1.73, for loci at 4p16, 6p23‐25, 16q22‐24, and 17q13. These results confirm previous reports for these loci. However, the differences between the two populations suggest that population specific locus heterogeneity exists. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website athttp://www.interscience.wiley.com/jpages/0148–7299/suppmat/index.html. © 2004 Wiley‐Liss, Inc.
Autosomal trisomy and maternal use of multivitamin supplements
Authors: Botto Lorenzo D. , Mulinare Joseph , Yang Quanhe , Liu Yecai , Erickson J. David
Published: February 2004

Recent reports suggest that women carrying certain polymorphisms of folate genes associated with suboptimal folate status might be at increased risk for having a child with Down syndrome or other autosomal trisomies, and hypothesized that maternal use of multivitamin supplements might reduce such risk. To evaluate this hypothesis, we examined data from a population‐based case‐control study, and contrasted cases of Down syndrome, trisomy 18, and trisomy 13, with unaffected controls. Periconceptional multivitamin use, compared to no such use, was associated with an odds ratio (OR) of 0.9 (95% confidence interval [CI], 0.6–1.3) for having a pregnancy affected by an autosomal trisomy. The OR was 0.8 (95% CI, 0.5–1.3) for Down syndrome and 1.4 (95% CI, 0.5–3.6) for trisomies 13 and 18, with little variation by maternal race or age. Periconceptional multivitamin use was not associated with a major reduction in the risk for common autosomal trisomies. Published 2003 Wiley‐Liss, Inc.
Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes
Authors: Gleeson Joseph G. , Keeler Lesley C. , Parisi Melissa A. , Marsh Sarah E. , Chance Phillip F. , Glass Ian A. , Graham Jr John M. , Maria Bernard L. , Barkovich A. James , Dobyns William B.
Published: February 2004

The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal‐oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a “molar tooth” on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first described in Joubert syndrome (JS) where it is present in the vast majority of patients with this diagnosis. We previously showed that the MTS is a component of several other syndromes, including Dekaban–Arima (DAS), Senior–Löken, and COACH (cerebellar vermis hypoplasia (CVH), oligophrenia, ataxia, coloboma, and hepatic fibrosis). Here we present evidence that the MTS is seen together with polymicrogyria, Váradi–Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. We also present a new patient with COACH syndrome plus the MTS. We propose that the MTS is found in multiple distinct clinical syndromes that may share common developmental mechanisms. Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes. © 2003 Wiley‐Liss, Inc.
Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene
Authors: Bennett Craig L. , Parisi Melissa A. , Eckert Melissa L. , Huynh Huy M. , Chance Phillip F. , Glass Ian A.
Published: February 2004

Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal eye movements. A single locus for JS was previously identified on 9q34 in a consanguineous family of Arabian origin. However, linkage to this locus has subsequently been shown to be rare. We have ascertained 35 JS pedigrees for haplotype segregation analysis of genetic loci for genes with a putative role in cerebellar development. We examined the ZIC1 gene as a functional candidate for JS as Zic1−/− null mice have a phenotype reminiscent of JS. We undertook mutational analysis of ZIC1 by standard mutational analysis (dideoxy‐fingerprinting (ddf)) of 47 JS probands, and fully sequenced the coding region in five of these probands. By these means, ZIC1 was excluded from playing a causal role in most cases of JS as no disease‐associated mutations were identified. Further, linkage to the ZIC1 genetic locus (3q24) was excluded in 21 of 35 pedigrees by haplotype segregation analysis of closely spaced markers. The remaining 14 of 35 pedigrees were consistent with linkage. However, this number does not significantly depart from that expected by random chance (16.5) for this cohort. Therefore, this systematic approach has been validated as a means to prioritize functional candidate genes and enables us to confine mutational analysis to only those probands whose segregation is consistent with linkage to any given locus. © 2003 Wiley‐Liss, Inc.
Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects
Authors: Román Corona‐Rivera J. , Corona‐Rivera Enrique , Fragoso‐Herrera Rubén , Nuño‐Arana Ismael , Loera‐Castañeda Verónica
Published: February 2004

Congenital palmar polyonychia (CPP) is a rare and usually sporadic birth defect. We report on a Mexican girl with CPP of both 5th fingers and her sister with ectrodactyly with ulnar ray deficits and agenesis of the ulna. In previous reports, CPP has been seen in ectrodactyly with involvement of the ulna and ulnar digital rays and with postaxial polydactyly. Such findings observed in our patients can be considered a form of CPP. Autosomal dominant inheritance of CPP is more likely based in previous informative families with vertical transmission and instances of male‐to‐male transmission. The present and two previous families with affected sibs only may represent parental gonadal mosaicism, whereas de novo mutation or incomplete evaluation of relatives could be an explanation for sporadic cases. Variable expression of the CPP phenotype may be a new autosomal dominant entity, i.e., a CPP‐postaxial limb defect syndrome. © 2003 Wiley‐Liss, Inc.
Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12)
Authors: Gole Leena , Crolla John A. , Thomas Simon N. , Jacobs Patricia A. , Dennis Nicholas R.
Published: February 2004

We report the clinical, cytogenetic, and molecular findings in a family in which a t(Y;15)(p11.2;q12) is segregating. The Y chromosome breakpoint disrupts the DYZ5 sequence containing the TSPY genes that are exclusively expressed in the testes while the chromosome 15 breakpoint is within the GABRG3 gene. The father and his son who both carried the balanced form of the translocation are clinically normal. A daughter who carried the der Y had the clinical features of Prader–Willi syndrome while a son who carries the der 15 has mild developmental delay and hypogonadism. The relationship of the translocation to the clinical phenotypes is discussed. © 2003 Wiley‐Liss, Inc.
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment
Authors: Hay Beverly N. , Martin Julie E. , Karp Barbara , Davis Joie , Darnell Dirk , Solomon Beth , Turner Maria , Holland Steven M. , Puck Jennifer M.
Published: February 2004

We report a family with five of six siblings (including identical male twins) with a novel constellation of immunologic and neurologic impairments. Affected subjects experienced severe dermatitis starting around 9 months of age, Stevens–Johnson syndrome in early childhood, and extreme elevations of IgE (9,400–43,000 IU/ml). The oldest sibling died at age 27 of respiratory failure following recurrent, severe pneumonias. All four surviving affected siblings have had chronic sinusitis or otitis, cutaneous vasculitis, and recurrent bacterial pneumonias leading to bronchiectasis. Neurologic features in all five siblings included oral motor deficits, dysarthria, low average IQ (70–80), and essential myoclonus. Four had documented ataxia and/or mild sensory loss with increased patellar but diminished ankle reflexes. The nonconsanguineous parents and one sibling had none of the above findings, consistent with autosomal recessive inheritance. This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley‐Liss, Inc.
Founder effect for the T93MDHCR7mutation in Smith‐Lemli‐Opitz syndrome
Authors: Nowaczyk Małgorzata J.M. , Martin‐Garcia Diana , Aquino‐Perna Angel , Rodriguez‐Vazquez Miguel , McCaughey Donna , Eng Barry , Nakamura Lisa M. , Waye John S.
Published: February 2004

Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive MCA‐MR disorder caused by mutations within the 7‐dehydrocholesterol reductase gene,DHCR7. The diagnosis is based on the biochemical findings of elevated plasma 7‐dehydrocholesterol (7DHC) levels. It is a panethnic condition with variable mutation frequencies in different populations. Ten Cuban patients and four Canadian patients of Mediterranean ancestry with SLOS are reported herein. All these patients are at the mild end of the clinical spectrum (the highest Kelley‐Hennekam severity score was 28 in one patient). All patients had genotypes which were compound heterozygous or homozygous for T93M; in all the Mediterranean patients the T93M mutation appeared to be associated with the J haplotype. Another compound heterozygote for T93M was of Ukrainian/Irish ancestry; in this patient the T93M was associated with a new haplotype designated K. The T93M mutation was initially reported as the most common in a series of patients from Italy. Our identification of a single haplotype associated with the T93M mutation in patients whose ancestors originate in the region of the Mediterranean Sea basin suggests a founder effect. © 2003 Wiley‐Liss, Inc.
Biologisch abbaubare Werkstoffe – Natur oder Petrochemie?
Authors: Mecking Stefan
Published: February 2004

Natürlich vorkommende Polymere werden seit langem als Werkstoffe verwendet, wegen ihrer eingeschränkten thermoplastischen Verarbeitbarkeit jedoch nur begrenzt. In jüngerer Zeit hat die mikrobielle Synthese von Polyestern unmittelbar aus Kohlenhydraten starkes Interesse gefunden. Polymilchsäure wird auf der Basis von durch Fermentation hergestellter Milchsäure seit kurzem sogar im großtechnischen Maßstab hergestellt, womit erstmals ein Polyester auf der Basis nachwachsender Rohstoffe als Massenkunststoff zur Verfügung steht. Die biologische Abbaubarkeit eines Materials ist unabhängig von dessen Herkunft, und bioabbaubare Polymere können ebenso auf der Basis fossiler Rohstoffe hergestellt werden. Eine Betrachtung der Kohlendioxid‐Emission und des Verbrauchs nichterneuerbarer Ressourcen über den gesamten Lebenszyklus eines Produktes fällt derzeit nicht unbedingt zugunsten von Materialien auf der Basis nachwachsender Rohstoffe aus, denn außer den für die Materialsynthese verwendeten Rohstoffen ist die zur Erzeugung der benötigten Energie herangezogene Rohstoffbasis entscheidend.
Melt‐intercalation nanocomposites with fluorinated polymers and a correlation for nanocomposite formation
Authors: Kim Younghoon , White James L.
Published: February 2004

Various fluorinated polymers were investigated to produce polymer nanocomposites with special clays. Natural and organically treated montmorillonite clays were melt‐compounded with the polymers. Characterization by wide‐angle X‐ray scattering and transmission electron microscopy showed the separation of montmorillonite layers and the formation of polymer nanocomposites. Organically treated montmorillonite clay dispersed in poly(vinylidene fluoride) and various vinylidene fluoride copolymers and formed nanocomposites. Natural and organophilic clays were not well dispersed in other fluorinated copolymers and polyethylene. A correlation was developed for the formation of polymer–clay nanocomposite structures in chlorinated and fluorinated polymers in terms of the dielectric constant. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1061–1071, 2004
Studies on Indian silk. II. Structure–property correlations
Authors: Sen Kushal , Babu K Murugesh
Published: February 2004

This second in a series of articles deals with studies on the structure and physical properties of five varieties of Indian silk: two mulberry (bivoltine and crossbreed) and three nonmulberry (tasar, muga, and eri). A detailed analysis of the microstructural parameters and mechanical properties was reported. Significant differences between and within the varieties with respect to microstructural parameters (crystallinity, density, birefringence, dichroic ratio, sonic modulus, etc.), as well as the effect of microstructural parameters on mechanical properties, were discussed. Some of the observations made on the inverse stress relaxation behavior of the different silk varieties were also reported. The extent of variation of these morphological parameters was found to correlate well with the mechanical properties. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1098–1115, 2004
Gallium recovery from Bayer's liquor using hydroxamic acid resin
Authors: Selvi P. , Ramasami M. , Samuel M. H. P. , Sripriya R. , Senthilkumar K. , Adaikkalam P. , Srinivasan G. N.
Published: February 2004

Gallium, which is extensively used in the production of semiconductor materials, is present at the parts per million level in Bayer's liquor. The low concentration of gallium in the liquor, along with the high concentration of aluminum, prompted the use of chelating ion exchangers as an alternative separation process. A chelating ion exchange resin with hydroxamic groups attached to the copolymer of acrylonitrile‐divinylbenzene has been prepared by suspension polymerization followed by hydrolysis and chelation with hydroxylamine hydrochloride. Adsorption studies of gallium, using the above hydroxamic acid resin, were carried out. Adsorption was dependent on particle size of the resin and optimum conditions are determined for obtaining 0.3‐ to 0.5‐mm particles by varying the composition of the emulsion, using a secondary polymerization technique, and adding of diluents. Acrylic acid, as a diluent in the copolymer matrix, was found to increase the particle size and stability of the resin. IR studies, carried out for the products obtained at various stages, confirmed the conversion of polymer to resin with a hydroxamic acid group and its complex formation with gallium. Both batch and column studies were carried out for the determination of the capacity of the resin with synthetic Bayer's liquor containing gallium and commercial Bayer's liquor. Scaled‐up column studies were carried out with commercial Bayer's liquor to test the cyclability and stability of the resin. It was observed that chelated ion exchange resin could be recycled up to 30 times. The optimal liquid to solid phase ratio was found to be 1:12. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 847–855, 2004
Polymerization in a magnetic field. 14. Possibilities to improve field effect during methyl acrylate polymerization
Authors: Chiriac Aurica P.
Published: February 2004

Magnetokinetic changes intervened in the radical polymerization of methyl acrylate in a continuous external magnetic field of 0.22 T was evidenced. The use of a matrix of polymerization, respectively, poly(ethylene glycol), was correlated with the obtained kinetic data. The occurring‐magnetokinetic changes were justified by the radical pair mechanism, Δg, which corresponds to the benzoyl peroxide decomposition into a magnetic field. The intervened magnetokinetic modifications during the reactions are correlated with the reaction conditions. The influence of the magnetic field is confirmed by the molecular weights of the obtained polymers, values interpreted from the viewpoint of the reaction conditions. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1031–1036, 2004
DMC catalyzed epoxide polymerization: Induction period, kinetics, and mechanism
Authors: Wu Li‐Chuan , Yu Ai‐Fang , Zhang Min , Liu Bao‐Hua , Chen Li‐Ban
Published: February 2004

The kinetics of propylene oxide polymerization catalyzed by double metal cyanide complexes was studied by means of pressure measurements. The induction periods were determined as the time as the system pressure began to drop and the reaction rates were considered proportional to the slope of pressure decrease. The induction periods were found to depend on reaction temperature, water content, and the type and amount of catalysts, regulators, and solvents. Elevating reaction temperatures, using dried raw materials, and applying proper regulators favored shortened induction periods. The reaction rates were found to depend on the concentrations of catalyst C, monomer M, and regulator Tr as expressed in the equation

equation image

where K was a rate constant and k was a transition constant. The rates also depended on reaction temperature. The apparent activation energy was 59.1 kJ/mol according to the Arrhenius equation. A mechanism was proposed for the polymerization which was in good accordance with the experimental results. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1302–1309, 2004
Morphology and micromechanical deformation behavior of styrene–butadiene block copolymers. III. Binary blends of asymmetric star block copolymer with general‐purpose polystyrene
Authors: Adhikari R. , Michler G. H. , Goerlitz S. , Knoll K.
Published: February 2004

The correlation between morphology, mechanical properties, and micromechanical deformation behavior of the blends consisting of an asymmetric styrene/butadiene star block copolymer (ST2‐S74, total styrene volume content ΦPS= 0.74) and general‐purpose polystyrene (GPPS) was investigated using transmission electron microscopy and uniaxial tensile testing. Addition of 20 wt % of GPPS to the block copolymer resulted in a drastic reduction in strain at break, indicating the existence of critical PS lamella thicknessDc. AboveDclamellar block copolymers displayed a transition from ductile to brittle behavior, substantiating the mechanism of thin layer yielding proposed for lamellar star block copolymers. The blends showed a variety of deformation structures ranging from classical crazelike zones to those with internal shearlike components. © 2004 Wiley Periodicals, Inc. J Appl Polym Sci 92: 1208–1218, 2004