bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polyamide‐imide nanofiltration hollow fiber membranes with elongation‐induced nano‐pore evolution
Authors: Sun Shi Peng , Wang Kai Yu , Rajarathnam D. , Hatton T. Alan , Chung Tai‐Shung 
Published: October 2009

AbstractThe molecular design of nanoporous membranes with desired morphology and selectivity has attracted significant interest over the past few decades. A major problem in their applications is the trade‐off between sieving property and permeability. Here, we report the discovery of elongation‐induced nano‐pore evolution during the external stretching of a novel polyamide‐imide nanofiltration hollow fiber membrane in a dry‐jet wet‐spinning process that simultaneously leads to a decreased pore size but increased pure water permeability. The molecular weight cutoff, pore size, and pore size distribution were finely tuned using this approach. AFM and polarized FTIR verified the nano‐pore morphological evolution and an enhanced molecular orientation in the surface skin layer. The resultant nanofiltration membranes exhibit highly effective fractionation of the monovalent and divalent ions of NaCl/Na2SO4 binary salt solutions. More than 99.5% glutathione can be rejected by the nanofiltration membranes at neutral pH, offering the feasibility of recovering this tripeptide. © 2009 American Institute of Chemical Engineers AIChE J, 2010
Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene
Authors: Kotilainen Johanna , Pohjola Pia , Pirinen Sinikka , Arte Sirpa , Nieminen Pekka 
Published: October 2009

AbstractThe major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the NSD1 gene. We investigated the dental manifestations of this disorder and found one or several premolar teeth were absent in 9 out of 13 (69%) affected children and adolescents. A heterozygous mutation in the NSD1 gene was identified in 12 patients, including all patients with hypodontia. The severity of the hypodontia seemed to increase with the severity of aberration of the NSD1. More than 50% of the patients had enamel defects or excessive tooth wear. Dental age, based on tooth formation, was within the normal range. A characteristic occlusion for Sotos syndrome could not be identified. As agenesis of premolars was a common feature in these patients affected with Sotos syndrome, we recommend panoramic radiography at the age of 7 years. If premolars are missing, proper preventive and restorative care is necessary to maintain the deciduous molars. © 2009 Wiley‐Liss, Inc.
Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis
Authors: Lang Colleen Walsh , Stark Alex P. , Acharya Kruti , Ross Lainie Friedman 
Published: October 2009

AbstractIllinois introduced mandatory newborn screening (NBS) for sickle cell disease (SCD) in 1989 and for cystic fibrosis (CF) in 2008. We examined maternal understanding of NBS for SCD and CF, and their knowledge of the genetics, symptoms, and treatments of both conditions. Our methods consisted of conducting interviews of inpatient post‐partum women (>18 years and English speaking). Our results showed that of the 388 eligible participants, 34 self‐identified as sickle cell carriers, 1 with SCD and 1 as a CF carrier. Almost 3/4 were African American (282/387). Although all but 5 women had prenatal care, only 35% (133/378) recalled their prenatal care provider mentioning NBS, and only 56% (217/388) of participants recalled nursery staff mentioning NBS. There was more self‐reported familiarity with SCD (3.32/5) than CF (1.97/5, P < 0.001). Over 2/3 (260/388) of participants could not answer CF knowledge questions because they had never heard of CF. Among those who had heard of the conditions, mean knowledge scores were 66% for SCD (n = 372) and 63% for CF (n = 128). Bivariate analysis identified education, age, race, marital status, and insurance status as statistically significant. After linear regression education remained significant for both conditions. We conclude that in a sample of predominantly African American post‐partum women, we found poor understanding of NBS, greater familiarity with SCD, and significant knowledge gaps for both SCD and CF. There are many missed educational opportunities for educating parents about NBS and specific conditions included in NBS panels in both the obstetric clinics and the nursery. © 2009 Wiley‐Liss, Inc.
Psychosocial aspects of patients with Niemann‐Pick disease, type B
Authors: Henderson Shelly L. , Packman Wendy , Packman Seymour 
Published: October 2009

AbstractHealth‐care providers have only begun to understand the medical aspects of Niemann–Pick disease type B (NPDB), a relatively rare disease. Even less information is known about the psychological effects of living with NPDB. Patients with NPDB and their families face numerous psychological stressors including extensive medical testing, uncertainty of diagnosis, living and coping with a chronic illness, and grief and bereavement surrounding this progressively debilitating, and, ultimately, fatal disease. We used a qualitative case study approach to explore the human experiences of NPDB patients and families. To assess psychosocial adjustment, all participants were administered a semi‐structured, qualitative interview, as well as quantitative measures. Five major findings emerged: (1) limited physical activity, social isolation, and peer rejection were identified as significant stressors; (2) stressors had a specific impact during the age span of 10–16 years; (3) parents and adult patients expressed frustration regarding the lack of available information and treatment; (4) patients described close family relationships as a way of coping with illness; and (5) adult patients identified early medical experiences as having a considerable psychological impact. The results of this investigation highlight and expand awareness of the psychological and social needs of NPDB patients and families. This study calls for a collaborative, multidisciplinary effort in the treatment of these patients and their families. © 2009 Wiley‐Liss, Inc.
Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype
Authors: Elbracht Miriam , Roos Andreas , Schönherr Nadine , Busse Sabine , Damen Reinhild , Zerres Klaus , Rudnik‐Schöneborn Sabine , Schüler Herdit Monika 
Published: October 2009

AbstractWe present clinical and molecular cytogenetic results of two unrelated patients with isolated distal trisomy of 2q33‐qter and 2q35‐q37.3 and a remarkable similar facial appearance. Common craniofacial features included a high hairline, broad nasal bridge, prominent nasal tip, thin upper lip vermillion, and large ears. Contrary to patients with duplications proximal to 2q33, the children with pure trisomy distal to 2q35 have normal or increased body measurements and show no major malformations. Moderate psychomotor delay was a constant finding. © 2009 Wiley‐Liss, Inc.
Ellis–van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia‐mediated diminished response to hedgehog ligands
Authors: Ruiz‐Perez Victor L. , Goodship Judith A. 
Published: October 2009

AbstractEllis–van Creveld syndrome (EvC; OMIM 225500) is a recessive disorder comprising chondrodysplasia, polydactyly, nail dysplasia, orofacial abnormalities and, in a proportion of patients, cardiovascular malformations. Weyers acrodental dysostosis (Weyers; OMIM 193530) is an allelic dominant disorder comprising polydactyly, nail dysplasia, and orofacial abnormalities. EvC results from loss‐of‐function mutations in EVC or EVC2, the phenotype associated with the mutations in these two genes being indistinguishable. Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. Localization and function of EVC and EVC2 are inferred from studying the murine orthologs. Both Evc and Evc2 proteins localize to the basal bodies of primary cilia and analysis of an Ellis–van Creveld mouse model, which includes the limb shortening and tooth abnormalities of EvC patients, has demonstrated Hedgehog signaling defects in the absence of Evc. The loss of Evc2 has not been studied directly, but Hedgehog signaling is impaired when a mutant murine Evc2 Weyer variant is expressed in vitro. We conclude that the phenotypic abnormalities in EvC and Weyers syndrome result from tissue specific disruption of the response to Hh ligands. © 2009 Wiley‐Liss, Inc.
Disorders of left–right asymmetry: Heterotaxy and situs inversus
Authors: Sutherland Mardi J. , Ware Stephanie M. 
Published: October 2009

AbstractCilia function is critical to the development of proper organ laterality. Primary ciliary dyskinesia (PCD) causes randomization of situs. Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal organs that results in congenital anomalies. Animal models and developmental biological approaches have defined pathways required during embryogenesis for proper left–right pattern formation. New candidates for genetic causes of human laterality disorders have emerged from recent studies on the assembly, transport, and signaling functions of cilia at the node as well as identification of cilia within the developing heart. There is evidence that deleterious genetic variants within one or more developmental pathways may disrupt signaling in a synergistic or combinatorial fashion to cause congenital anomalies. The molecular pathways underlying PCD and heterotaxy are being discovered at a rapid pace, and there is increasing recognition of the overlap between these two categories of laterality disorders and their relationship to isolated cardiovascular malformations. This review focuses on the clinical manifestations, molecular mechanisms, and human genetics of these disorders of laterality. © 2009 Wiley‐Liss, Inc.
Diaryliodonium Salts: A Journey from Obscurity to Fame
Authors: Merritt Eleanor A. , Olofsson Berit 
Published: October 2009

AbstractThe recent groundbreaking developments in the application of diaryliodonium salts in cross‐coupling reactions has brought this class of previously underdeveloped reagents to the forefront of organic chemistry. With the advent of novel, facile, and efficient synthetic routes to these compounds, many more applications can be foreseen. Herein we provide an overview of the historical and recent advances in the synthesis and applications of diaryliodonium salts.
Out‐of‐pocket expenses and their burden in patients with rheumatoid arthritis
Authors: Wolfe Frederick , Michaud Kaleb 
Published: October 2009

AbstractObjectiveTo describe and understand the burden of out‐of‐pocket expenses in patients with rheumatoid arthritis (RA).MethodsWe studied out‐of‐pocket expenses and their burden in 8,545 US patients with RA. We determined direct medical costs, out‐of‐pocket expenses, the burden of out‐of‐pocket expenses, household income, and measures of RA severity and outcome. In addition, patients were classified into 3 groups based on the level of burden caused by out‐of‐pocket expenses: no or limited problem (I am able to pay the bills without much problem); moderate problem (paying the bills takes away some money I need for other activities); and a great problem (I can't purchase all of the medications or medical care that I need).ResultsA total of 43.6% of patients reported problems paying medical bills after insurance payments and 9.0% reported severe or great problems. Problems with expenses were associated with measures of RA severity, but also and particularly with lower household income and absence of health insurance. The proportion of household income that was consumed by out‐of‐pocket spending for the 3 groups was 2.4%, 7.2%, and 19.2%, respectively, and the percentage of patients meeting the 185% poverty level for these groups was 12.3%, 24.4%, and 51.3%, respectively.ConclusionThe out‐of‐pocket burden is substantial, particularly in those <65 years of age. Out‐of‐pocket expenses exert their severity predominantly on those with the most severe RA who have the least ability to pay. Household income is the primary determinant of out‐of‐pocket burden, followed by RA severity, and type of health insurance.
Effect of certolizumab pegol with methotrexate on home and work place productivity and social activities in patients with active rheumatoid arthritis
Authors: Kavanaugh Arthur , Smolen Josef S. , Emery Paul , Purcaru Oana , Keystone Edward , Richard Lance , Strand Vibeke , van Vollenhoven Ronald F. 
Published: October 2009

AbstractObjectiveTo assess the impact of certolizumab pegol (CZP), a novel PEGylated anti–tumor necrosis factor, in combination with methotrexate (MTX) on productivity outside and within the home, and on participation in family, social, and leisure activities in adult patients with rheumatoid arthritis (RA).MethodsThe efficacy and safety of CZP (200 mg and 400 mg) plus MTX were assessed in 2 phase III, multicenter, double‐blind, placebo‐controlled trials (Rheumatoid Arthritis Prevention of Structural Damage [RAPID] 1 and RAPID 2). The novel, validated, RA‐specific Work Productivity Survey (WPS‐RA) was used to assess work place and home productivity. WPS‐RA responses were collected at baseline and every 4 weeks until withdrawal/study completion.ResultsAt baseline, 41.6% and 39.8% of subjects were employed outside the home in RAPID 1 and RAPID 2, respectively. Compared with placebo plus MTX, CZP plus MTX significantly reduced work absenteeism and presenteeism among patients working outside the home. Significant reductions in number of household days lost, household days with productivity reduced by ≥50%, and days lost due to RA for participation in family, social, and leisure activities were reported by patients in active treatment relative to placebo plus MTX. Improvements in all measures were observed with CZP plus MTX as early as week 4, and maintained until the study end (12 months in RAPID 1, 6 months in RAPID 2). Findings were consistent with clinical improvements with CZP plus MTX in both trials.ConclusionCZP plus MTX improved productivity outside and within the home and resulted in more participation in social activities compared with placebo plus MTX. These observations suggest that considerable indirect cost gains might be achieved with this therapeutic agent in RA.
Screening of chondrogenic factors with a real‐time fluorescence‐monitoring cell line ATDC5‐C2ER: Identification of sorting nexin 19 as a novel factor
Authors: Kan Akinori , Ikeda Toshiyuki , Saito Taku , Yano Fumiko , Fukai Atushi , Hojo Hironori , Ogasawara Toru , Ogata Naoshi , Nakamura Kozo , Chung Ung‐Il , Kawaguchi Hiroshi 
Published: October 2009

AbstractObjectiveTo establish a cell culture system for noninvasive and real‐time monitoring of chondrogenic differentiation in order to screen for chondrogenic factors.MethodsThe optimum reporter construct transfected into chondrogenic ATDC5 cells was selected by a luciferase reporter assay and fluorescence analysis during cultures with insulin. The established cell line was validated according to its fluorescence following stimulation with SOX proteins, bone morphogenetic protein 2 (BMP‐2), or transforming growth factor β (TGFβ) and was compared with the level of messenger RNA for COL2A1 as well as with the degree of Alcian blue staining. Screening of chondrogenic factors was performed by expression cloning using a retroviral expression library prepared from human tracheal cartilage. The expression pattern of the identified molecule was examined by in situ hybridization and immunohistochemistry. Functional analysis was performed by transfection of the identified gene, the small interfering RNA, and the mutated gene.ResultsWe established an ATDC5 cell line with 4 repeats of a highly conserved enhancer ligated to a COL2A1 basal promoter and the DsRed2 reporter (ATDC5‐C2ER). Fluorescence was induced under the stimulations with SOX proteins, BMP‐2, or TGFβ, showing good correspondence to the chondrogenic markers. Screening using the ATDC5‐C2ER system identified several chondrogenic factors, including sorting nexin 19 (SNX19). SNX19 was expressed in the limb cartilage of mouse embryos and in the degraded cartilage of adult mouse knee joints during osteoarthritis progression. The gain‐of‐function and loss‐of‐function analyses revealed a potent chondrogenic activity of SNX19.ConclusionWe established the ATDC5‐C2ER system for efficient monitoring of chondrogenic differentiation by fluorescence analysis, and we identified a novel chondrogenic factor (SNX19) using this system. This system will be useful for elucidating the molecular network of chondrogenic differentiation.
Circulating mesenchymal stem cells with abnormal osteogenic differentiation in patients with osteoporosis
Authors: Carbonare Luca Dalle , Valenti Maria Teresa , Zanatta Mirko , Donatelli Luca , Lo Cascio Vincenzo 
Published: October 2009

AbstractObjectiveWhile the role of osteoclasts in bone loss has been well investigated, the involvement of osteoblast‐lineage cells has not been completely elucidated. Several genes contribute to normal osteoblastic differentiation from mesenchymal stem cells (MSCs), but an understanding of their role in the pathogenesis of osteoporosis is still lacking. The present study was undertaken to evaluate a possible alteration of osteogenic gene expression as a mechanism contributing to bone loss.MethodsWe studied the osteogenic differentiation process in MSCs obtained from the peripheral blood of 31 patients with osteoporosis and 20 normal donors. The cells were evaluated by colony‐forming unit–fibroblastic assay and cultured in osteogenic medium to analyze the transcription factors runt‐related transcription factor 2 (RUNX‐2) and Sp7 and the bone‐related genes COL1A1, SPARC, and SPP1 after 3, 8, and 15 days of differentiation. In addition, to determine possible differences between the 2 groups in terms of osteoclastic and osteoblastic activation, we quantified the osteoprotegerin (OPG) and RANKL levels in the supernatants of osteoblastic culture.ResultsCirculating MSCs were increased in osteoporosis patients compared with normal donors. In contrast, gene expression analysis revealed down‐regulation of RUNX2, Sp7, COL1A1, SPARC, and SPP1 in patients with osteoporosis, associated with a lower OPG:RANKL ratio.ConclusionThese results suggest that an alteration of osteoblastic differentiation may contribute to the pathogenesis of osteoporosis. The noninvasive approach used in the present study could be proposed as a useful tool for studying mesenchymal involvement in bone diseases.
B lymphocyte stimulator expression in pediatric systemic lupus erythematosus and juvenile idiopathic arthritis patients
Authors: Hong Sandy D. , Reiff Andreas , Yang Hai‐Tao , Migone Thi‐Sau , Ward Christopher D. , Marzan Katherine , Shaham Bracha , Phei Wee Choo , Garza Judith , Bernstein Bram , Stohl William 
Published: October 2009

AbstractObjectiveTo assess the expression of B lymphocyte stimulator (BLyS) in patients with pediatric systemic lupus erythematosus (SLE) or juvenile idiopathic arthritis (JIA).MethodsBlood samples collected from patients with pediatric SLE (n = 56) and patients with JIA (n = 54) at the beginning and end of a 6‐month interval were analyzed for plasma BLyS protein levels by enzyme‐linked immunosorbent assay and for blood leukocyte full‐length BLyS and ΔBLyS messenger RNA (mRNA) levels by quantitative real‐time polymerase chain reaction (normalized to 18S expression). Healthy siblings (n = 34) of these patients served as controls.ResultsIn pediatric SLE, plasma BLyS protein and blood leukocyte BLyS mRNA levels were each significantly elevated, and plasma BLyS protein levels, but not blood leukocyte BLyS mRNA levels, were correlated with disease activity. In contrast, plasma BLyS protein levels were normal in JIA despite blood leukocyte BLyS mRNA levels being elevated to degrees similar to those in pediatric SLE. Among JIA patients, neither BLyS parameter was correlated with disease activity. In both pediatric SLE and JIA, the BLyS expression profiles remained stable at 6 months.ConclusionOur findings indicate that, as previously noted in adult SLE, plasma BLyS protein and blood leukocyte BLyS mRNA levels are elevated in pediatric SLE. The correlation of plasma BLyS protein levels with disease activity points to BLyS as a candidate therapeutic target in pediatric SLE. Contrary to previous observations in adults with rheumatoid arthritis, plasma BLyS protein levels are normal in JIA despite elevated blood leukocyte BLyS mRNA levels. The absence of correlation between either of the BLyS parameters and disease activity in JIA calls for circumspection prior to assigning BLyS as a candidate therapeutic target in this disorder.
Clinical and histologic evidence of salivary gland restoration supports the efficacy of rituximab treatment in Sjögren's syndrome
Authors: Pijpe J. , Meijer J. M. , Bootsma H. , van der Wal J. E. , Spijkervet F. K. L. , Kallenberg C. G. M. , Vissink A. , Ihrler S. 
Published: October 2009

AbstractObjectiveTo assess the effect of rituximab (anti‐CD20 antibody) therapy on the (immuno)histopathology of parotid tissue in patients with primary Sjögren's syndrome (SS) and the correlation of histologic findings with the flow rate and composition of parotid saliva.MethodsIn a phase II study, an incisional parotid biopsy specimen was obtained from 5 patients with primary SS before and 12 weeks after rituximab treatment (4 infusions of 375 mg/m2). The relative amount of parotid parenchyma, lymphocytic infiltrate, and fat, and the presence/quantity of germinal centers and lymphoepithelial duct lesions were evaluated. Immunohistochemical characterization was performed to analyze the B:T cell ratio of the lymphocytic infiltrate (CD20, CD79a, CD3) and cellular proliferation in the acinar parenchyma (by double immunohistologic labeling for cytokeratin 14 and Ki‐67). Histologic data were assessed for correlations with the parotid flow rate and saliva composition.ResultsFour patients showed an increased salivary flow rate and normalization of the initially increased salivary sodium concentration. Following rituximab treatment, the lymphocytic infiltrate was reduced, with a decreased B:T cell ratio and (partial) disappearance of germinal centers. The amount and extent of lymphoepithelial lesions decreased in 3 patients and was completely absent in 2 patients. The initially increased proliferation of acinar parenchyma in response to inflammation was reduced in all patients.ConclusionSequential parotid biopsy specimens obtained from patients with primary SS before and after rituximab treatment demonstrated histopathologic evidence of reduced glandular inflammation and redifferentiation of lymphoepithelial duct lesions to regular striated ducts as a putative morphologic correlate of increased parotid flow and normalization of the salivary sodium content. These histopathologic findings in a few patients underline the efficacy of B cell depletion and indicate the potential for glandular restoration in SS.