bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Key Role for Telomerase Reverse Transcriptase Unit in Modulating Human Embryonic Stem Cell Proliferation, Cell Cycle Dynamics, and In Vitro Differentiation
Authors: Yang Chunbo , Przyborski Stefan , Cooke Michael J. , Zhang Xin , Stewart Rebecca , Anyfantis George , Atkinson Stuart P. , Saretzki Gabriele , Armstrong Lyle , Lako Majlinda 
Published: January 2008

Abstract
Embryonic stem cells (ESC) are a unique cell population with the ability to self-renew and differentiate into all three germ layers. Human ESC express the telomerase reverse transcriptase (TERT) gene and the telomerase RNA (TR) and show telomerase activity, but TERT, TR, and telomerase are all downregulated during the differentiation process. To examine the role of telomerase in human ESC self-renewal and differentiation, we modulated the expression of TERT. Upregulation of TERT and increased telomerase activity enhanced the proliferation and colony-forming ability of human ESC, as well as increasing the S phase of the cell cycle at the expense of a reduced G1 phase. Upregulation of TERT expression was associated with increases in CYCLIN D1 and CDC6 expression, as well as hyperphosphorylation of RB. The differentiated progeny of control ESC showed shortening of telomeric DNA as a result of loss of telomerase activity. In contrast, the differentiated cells from TERT-overexpressing ESC maintained high telomerase activity and accumulated lower concentrations of peroxides than wild-type cells, implying greater resistance to oxidative stress. Although the TERT-overexpressing human ESC are able to form teratoma composed of three germ layers in vivo, their in vitro differentiation to all primitive and embryonic lineages was suppressed. In contrast, downregulation of TERT resulted in reduced ESC proliferation, increased G1, and reduced S phase. Most importantly, downregulation of TERT caused loss of pluripotency and human ESC differentiation to extraembryonic and embryonic lineages. Our results indicate for the first time an important role for TERT in the maintenance of human ESC pluripotency, cell cycle regulation, and in vitro differentiation capacity.
Disclosure of potential conflicts of interest is found at the end of this article.
Tanks and Pressure Vessels, Layered Vessels
Authors: Jawad Maan , Shah Manesh , Zhu Guohui 
Published: January 2008

Abstract
Pressure vessels in today's chemical plants are employed in a variety of services such as reactors, heat exchangers, storage tanks, waste heat boilers, high pressure fluid reservoirs for heavy mechanical presses, and for storage of rocket propellants. They are also used in traditional and nuclear power plants. Fabrication technologies using thick hot rolled‐welded or bent‐welded steel plate and thick segment forge‐welded steel in a single layer and thin steel plate wrapped welded and fitted in multilayers, and wound steel ribbon or carbon filament are procedures used for major vessels. Reactors for certain processes require anticorrosive layers inside the vessels with the ability for detection of failure in the layer. Special steel is needed for use at high temperatures in the petroleum hydrogenation reactors. This article discusses the fabrication of such vessels and new technologies that have been developed in China and Germany. ASME codes for construction are given as well as details on ASME approved materials. Advantages of ribbon winding and details of fabrication are discussed. Thick steel plate rolled welded and ribbon wound vessel technologies are compared. New developments include, eg, the use of graphite filaments or ribbons in fuel cells for automobiles, and layered vessels for use in long distance transport pipe and storage tanks. Use of the German U‐grooved technology is combined with Chinese technology. Applications for this technology include in vessels for ammonia plants, methanol plants, petrochemical plants, in fluid storage tanks, urea reactors, hydrogen storage tanks, and hot wall hydrogenation reactors. Leak monitoring is important and addressed. Professional organizations important to the pressure vessel technologies are listed.
On the meaning of meaning when being mean: commentary on Berkowitz's “On the Consideration of Automatic as Well as Controlled Psychological Processes in Aggression”
Authors: Dodge Kenneth A. 
Published: January 2008

AbstractBerkowitz (this issue) makes a cogent case for his cognitive neo‐associationist (CNA) model that some aggressive behaviors occur automatically, emotionally, and through conditioned association with other stimuli. He also proposes that they can occur without “processing,” that is, without meaning. He contrasts his position with that of social information processing (SIP) models, which he casts as positing only controlled processing mechanisms for aggressive behavior. However, both CNA and SIP models posit automatic as well as controlled processes in aggressive behavior. Most aggressive behaviors occur through automatic processes, which are nonetheless rule governed. SIP models differ from the CNA model in asserting the essential role of meaning (often through nonconscious, automatic, and emotional processes) in mediating the link between a stimulus and an angry aggressive behavioral response. Aggr. Behav. 34:133–135, 2008. © 2008 Wiley‐Liss, Inc.
Two‐phase flow in structured packings: Modeling and calculation on a macroscopic scale
Authors: Mahr B. , Mewes D. 
Published: January 2008

AbstractA model is presented that allows calculating the macroscopic flow field of counter‐current two‐phase flow in strongly anisotropic porous structures. It is applied to corrugated structured packings. All flow field variables and packing properties are averaged over the volume of an elementary cell. The anisotropic gas flow resistance is derived from measurements and from separate CFD calculations on 3D‐X‐ray CT scans. The liquid's flow resistance is calculated using an analytical model of liquid film flow on an inclined plate. Liquid flow along both preferential flow directions is represented by two separate phases, in order to consider horizontal forces despite their symmetry. Gas‐liquid momentum transfer above the loading point is included. The macroscopic flow field is calculated for a 288 mm I.D. column containing four packing elements. Liquid spreading from a point source, for uniform irrigation, increased hold‐up at the packing elements' joints and pressure drop are tested against experimental results. © 2008 American Institute of Chemical Engineers AIChE J, 2008
Ancestral links of Chesapeake Bay region African Americans to specific Bight of Bonny (West Africa) microethnic groups and increased frequency of aggressive breast cancer in both regions
Authors: Jackson Fatimah L. C. 
Published: January 2008

AbstractThe high frequency of aggressive, early onset, and highly fatal breast cancer among Chesapeake Bay region African Americans suggests that there may be a contributing ancestral component. This study identifies the region's founding African, European, and Native American Indian populations using ethnogenetic layering and identifies the microethnic substructure of each founding continental aggregate. The largest component (38%) of the enslaved Africans brought to the Chesapeake Bay originally came from the coastal and hinterlands of the Bight of Bonny, a region with very high rates of aggressive, early onset breast cancer. Ethnogenetic layering is applied a second time to reveal the microethnic groups of the Bight of Bonny hinterlands with historical links to the Chesapeake Bay region. These analyses identify the specific microethnic groups within this region of Africa that may be the sources of relevant polymorphisms contributing to the etiology of aggressive breast cancer in the Chesapeake Bay. This report suggests a historical link between specific African microethnic groups and a US health disparity. Am. J. Hum. Biol., 2008. © 2008 Wiley‐Liss, Inc.
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Authors: Longo Nicola , Schrijver Iris , Vogel Hannes , Pique Lynn M. , Cowan Tina M. , Pasquali Marzia , Steinberg Gary K. , Hedlund Gary L. , Ernst Sharon L. , Gallagher Renata C. , Enns Gregory M. 
Published: January 2008

AbstractMELAS (mitochondrial encephalopathy with lactic acidosis and stroke‐like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10–25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear. © 2008 Wiley‐Liss, Inc.
Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: Data from a multi‐hospital healthcare system
Authors: Wiedmeier S.E. , Henry E. , Christensen R.D. 
Published: January 2008

AbstractLimited information is available on the expected hematological values of newborn infants with trisomy 18 or trisomy 13 syndromes. About 50% of patients with these conditions survive beyond the first week of life, and some have complete blood counts (CBCs) obtained to assist in medical management. We tabulated all CBC data that had been obtained on patients with either trisomy, during their first week of life, using data from an 18 hospital healthcare system. We posited that describing the CBC findings would assist clinicians in providing care for these patients who survive beyond the first days. During the period of January 1, 2001 through December 31, 2006, 174,480 live births were recorded at the 18 hospitals. Trisomy 18 was recognized in 28 (prevalence estimate, 1 in 6,231) and trisomy 13 in 22 (prevalence estimate, 1 in 7,931). Twenty‐four of these had one or more CBCs obtained before the seventh day. Thrombocytopenia was the most common hematological abnormality detected, occurring in 83% of those with trisomy 18 and 75% of those with trisomy 13. Three patients with trisomy 18, and 1 with trisomy 13, received platelet transfusions. The second most commonly detected abnormality was neutrophilia. Eighty‐three percent of neonates with trisomy 13, and 42% with trisomy 18, had neutrophil concentrations above the upper limit of normal for age. Abnormal erythrocyte values were the third most common hematological abnormalities detected. These were much more common among neonates with trisomy 18. Only 43% of patients with trisomy 18 had normal erythrocyte values; anemia was detected in 40% and polycythemia in 17%. Only one neonate with trisomy 13 had abnormal erythrocyte findings (polycythemia). These data should assist clinicians caring for neonates with trisomy 18 or 13, demonstrating how common hematological abnormalities exist among these patients. © 2008 Wiley‐Liss, Inc.
Characterization of a cryptic 3.3 Mb deletion in a patient with a “balanced t(15;22) translocation” using high density oligo array CGH and gene expression arrays
Authors: Li Marilyn M. , Nimmakayalu Manjunath A. , Mercer Danielle , Andersson Hans C. , Emanuel Beverly S. 
Published: January 2008

AbstractPatients with an apparently balanced translocation and an abnormal phenotype may carry a cryptic deletion/duplication at their translocation breakpoints that may explain their abnormalities. Using microarray CGH (aCGH) and gene expression arrays we studied a child with t(15;22)(q26.1;q11.2), developmental delay and mild dysmorphic features. A high density aCGH study with 244,000 oligo probes demonstrated a 3.3 Mb deletion immediately adjacent to the 15q breakpoint. Gene expression studies with 44,000 oligos displayed an approximately 50% reduction of the expression of IGF1R gene that was translocated to the der(22). There are 18 known or hypothetical protein coding genes within the deleted region according to UniProt, RefSeq, and GenBank mRNA (UCSC HG17, May 2004). Although two of these genes, RGMA and ST8SIA2, play an important role in neural development, the mild phenotype of our patient indicates that loss of one copy of these genes may not be critical developmentally. The 50% reduction of IGF1R expression could be responsible for the growth deficiency in the patient. Reviewing the few 15q26 microdeletion cases that have been characterized by aCGH, we discovered that deletion of the segment including distal 15q26.2 to the proximal part of 15q26.3 is associated with severe phenotypes. Our experience demonstrates that high‐density oligonucleotide‐based aCGH is a quick and precise way to identify cryptic copy number changes in “balanced translocations.” Expression studies can also add valuable information regarding gene expression changes due to a chromosomal rearrangement. Both approaches can assist in the elucidation of the etiology of unexplained phenotypic differences in cases such as this one. © 2008 Wiley‐Liss, Inc.
A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)
Authors: Gabbett Michael T. , Clark Ronald C. , McGaughran Julie M. 
Published: January 2008

AbstractWe present a case of a male with severe mental retardation, seizure disorder, and absence/hypoplasia of the thumb and great toe nails. This combination of clinical findings has been reported only once previously. We suggest it represents a distinct syndrome. Our case has the additional finding of broad thumbs. © 2008 Wiley‐Liss, Inc.
The Italian National Survey for Prader–Willi syndrome: An epidemiologic study
Authors: Grugni Graziano , Crinò Antonino , Bosio Laura , Corrias Andrea , Cuttini Marina , De Toni Teresa , Di Battista Eliana , Franzese Adriana , Gargantini Luigi , Greggio Nella , Iughetti Lorenzo , Livieri Chiara , Naselli Arturo , Pagano Claudio , Pozzan Giovanni , Ragusa Letizia , Salvatoni Alessandro , Trifirò Giuliana , Beccaria Luciano , Bellizzi Maria , Bellone Jaele , Brunani Amelia , Cappa Marco , Caselli Gabriella , Cerioni Valeria , Delvecchio Maurizio , Giardino Daniela , Iannì Francesco , Memo Luigi , Pilotta Alba , Pomara Cristoforo , Radetti Giorgio , Sacco Michele , Sanzari Annarosa , Sartorio Alessandro , Tonini Giorgio , Vettor Roberto , Zaglia Federico , Chiumello Giuseppe ,   on behalf of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
Published: January 2008

AbstractTwenty‐five medical centers and the Prader–Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers contacted PWS subjects and/or their family, filled in a specially developed form with the required data and forwarded this information by email. The study identified 425 subjects (209 males and 216 females, between the ages of 0.4–46.7). Two hundred thirty‐eight patients had del15, 104 had UPD15, 4 demonstrated a translocation affecting chromosome 15 and 79 showed a positive methylation test. There were fewer subjects found over the age of 35, probably due to the low rate of identification of older PWS patients as well as the high mortality rate. There were a greater number of male children and adolescents with PWS whilst, amongst adults, there were more females. As expected, the majority of subjects with PWS were obese, especially in adult life. Nevertheless, it is noteworthy that 26% of patients aged between 6 and 17 were normal weight. A total of 212 subjects had received GH treatment, of which 141 were still receiving therapy, while the remaining 71 had stopped. In children and adolescents (233 cases), 89 subjects had never undergone GH therapy. Eighteen PWS patients had died in the past 20 years. Obesity‐related cardiovascular and respiratory diseases were the cause of death, both during childhood and after 18 years of age. Three children died suddenly whilst undergoing GH therapy. Respiratory infection and cardiac illness were the causes of death in two cases. There was no definitive cause of death found in the third case. Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death. © 2008 Wiley‐Liss, Inc.
Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization
Authors: Croonen Ellen A. , van der Burgt Ineke , Kapusta Livia , Draaisma Jos M. Th. 
Published: January 2008

AbstractNoonan syndrome is a developmental disorder with distinctive facial features, short stature and cardiac abnormalities. In this cross‐sectional study, we evaluated characteristic electrocardiographic (ECG) findings and cardiac abnormalities in 84 patients with Noonan syndrome, 56 (67%) of who were positive for a PTPN11 mutation. As reported previously, pulmonary stenosis was the most common cardiac abnormality, followed by atrial septal defect and hypertrophic cardiomyopathy. The ECG showed at least one characteristic finding in 50% of cases including left axis deviation in 38 (45%), small R waves in the left precordial leads in 20 (24%) and an abnormal Q wave in 5 (6%) patients with Noonan syndrome. A wide QRS complex was not detected in any of these patients. The characteristic ECG findings of Noonan syndrome patients were not associated with a PTPN11 gene mutation, or with a (specific) cardiac anomaly. We conclude that there are characteristic ECG findings in Noonan syndrome, but the ECG pattern is neither a useful tool for the phenotype characterization of a PTPN11 mutation, nor for the presence or type of cardiac abnormality. © 2008 Wiley‐Liss, Inc.
Empirical data about women's attitudes toward a biobank focused on pregnancy outcomes
Authors: Joseph Josh W. , Neidich Alon B. , Ober Carole , Ross Lainie Friedman 
Published: January 2008

AbstractThe Chicago Lying‐in Pregnancy Program (CLIPP) is a biobank designed to collect biological samples from pregnant women to study issues related to pregnancy. Despite the large number of biobanking initiatives in obstetric populations around the world, there is no published research that examines what pregnant women understand about enrollment into such programs and what their attitudes and beliefs are toward the research and its potential outcomes. Postpartum women 18 years or older who delivered at the University of Chicago Hospitals and had live infants on the General Care Nursery service were approached about participating in a survey about the CLIPP biobank and about a hypothetical pediatric biobank. Ninety‐three women who had been recruited to participate in CLIPP agreed to participate in this research. Sixty‐three women (68%) had previously agreed to participate in CLIPP; and 30 (32%) had refused. Both participants and non‐participants understood that CLIPP had the main goal of advancing science, although almost one‐half of the respondents thought that participation in CLIPP would benefit the individual participants. Eighty‐five (92%) correctly believed that the research team would keep the medical information private. There was widespread optimism that the research would yield significant results. Importantly, there was no difference in these beliefs between those who enrolled and those who did not enroll in CLIPP. While education and socioeconomic status correlated with greater understanding about the methods and goals of the program, greater understanding did not correlate with willingness to participate. Our survey found widespread willingness to enroll in a pregnancy‐focused biobank and optimism that the results will yield significant benefits. © 2008 Wiley‐Liss, Inc.
The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay
Authors: Chen Min‐Jye , Holt Cheryl L. , Lose Edward J. , Robin Nathaniel H. 
Published: January 2008

AbstractDevelopmental delay (DD) is among the most common serious problems encountered by the general pediatrician. Published guidelines exist that recommend a genetics evaluation be a routine part of the evaluation of these children [Curry et al. (1997) Am J Med Genet 72:468–477; American Academy of Pediatrics (2001) Peds 108:192–195]. In an effort to determine if this recommendation is widely followed, we surveyed Alabama general pediatrics to learn how they utilize a genetic assessment in their evaluation of unexplained DD, and to identify any barriers to a genetics evaluation. A questionnaire was developed that asked about various factors that might influence how pediatricians use genetic evaluations. It was mailed to all members of the Alabama chapter of the American Academy of Pediatrics. The data were tabulated and analyzed by standard methods. One hundred thirty‐seven of 653 surveys were returned. The respondents were evenly divided among urban (35%), suburban (33%), and rural (32%) practice settings. Most were in a non‐academic group practice (71%) and not fellowship trained (76%). Most felt that a genetic evaluation will help define recurrence risk (96%), determine prognosis (96%), and guide patient management (95%). There was limited concern that a genetics evaluation would increase the cost of evaluation (24%) and that it would not eliminate unnecessary testing (64%). The most common indications for referral were the presence of birth defects (93%), positive family history of DD (88%), unusual facial appearance (88%), and parent request (71%). Poor growth was not as strong an indicator. Lack of meaningful results (20%) and expense (18%) were common reasons not to refer, and 48% also cited “other” reasons. Likelihood to refer did not differ by practice location (rural vs. suburban), but distance from a genetics center was a factor. Alabama general pediatricians appreciated the benefits of a genetic evaluation for DD, but several barriers were identified. These issues that must be addressed in order to make a genetics evaluation available to all children with DD. © 2008 Wiley‐Liss, Inc.
Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts
Authors: Gripp Karen W. , Johnson Caitlyn , Scott Charles I. , Nicholson Linda , Bober Michael , Butler Merlin G. , Shaw Linda , Gorlin Robert J. 
Published: January 2008

AbstractSPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from “spondylar and nasal alterations with striated metaphyses” [Fanconi et al. 1983; Helv Paediat Acta 38: 267–280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20–27]. Since the original publication, additional findings were identified in these patients. © 2008 Wiley‐Liss, Inc.