bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy Patients
Authors: Kocheva S , Vlaski-Jekic S , Kuturec M , Efremov G 
Published: May 2008

Molecular Analysis of Survival Motor Neuron and Neuronal Apoptosis Inhibitory Protein Genes in Macedonian Spinal Muscular Atrophy PatientsSpinal muscular atrophy (SMA) is classified according to the age of onset and severity of the clinical manifestations into: acute (Werding-Hoffman disease or type I), intermediate (type II) and juvenile (Kugelberg-Wilander disease or type III) forms. All three SMAs have been linked to markers at 5q11.2-q13.3. Two candidate genes deleted in SMA patients are the survival motor neuron (SMN) gene and the neuronal apoptosis inhibitory protein (NAIP) gene. We have performed molecular analyses of these genes in 30 unrelated Macedonian families (17 with type I, eight with type II and five with type III forms of the disease). Deletions of exons 7 and 8 of the SMN gene were found in 76.6% (23/30) of patients (94.1% in type I, 87.5% in type II). Among these 23 families, 19 had both exons deleted, while four had deletions only of exon 7. Deletions of exon 5 of the NAIP gene were found in 41.2% (7/17) patients with type I SMA and in 12.5% (1/8) of patients with type II SMA. No deletions of the SMN gene were found in 30 parents and 30 normal controls. We found 2/30 (6.7%) parents to be homozygous for the deletion of exon 5. Our data support the hypothesis that the telomeric SMN gene plays a major role in determining the clinical course of the disease, while the defects in the NAIP gene have only a modifying effect on the phenotype.
Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas
Authors: Pazarbaşi A , Kasap M , Demirhan O , Vardar M , Suleymanova-Karahan D , Doran F 
Published: May 2008

Chromosomal Abnormalities in Endometrial and Ovarian CarcinomasDevelopment and progression of human malignancies involve multiple genetic changes including chromosomal instabilities such as translocations, deletions, and inversions. Chromosomal abnormalities were observed in 23 cases with ovarian and endometrial cancer by cytogenetic studies using a GTG (G bands by trypsin using Giemsa) banding technique. Specific chromosome bands were frequently involved, and were most frequent on chromosomes 1, 2, 3, 5, 12 and 17. Clonal alterations were observed at the cancer breakpoints, such as 1q21, 1q32, 3p21, 7q22, 11q23 in ovarian and 1p36, 1q32, 2p12, 3p21, 7q22, 9q34, 11p15, 11q23, 12q13, 14q11, 14q32, 16p13, 21q22 in endometrial cases. These findings provide evidence that multiple genetic lesions are associated with the pathogenesis of endometrial and ovarian cancer.
Triploidies in First and Second Trimesters of Pregnancies in Turkey
Authors: Yilmaz Z , Sahin F , Tarim E , Kuscu E 
Published: May 2008

Triploidies in First and Second Trimesters of Pregnancies in TurkeyTriploidy is the most common chromosomal abnormality in human conceptions that cause fetal loss before 20 weeks of gestation and has an incidence of 1 in 10,000 live births. Placental changes, fetal malformations and intrauterine growth retardation (IUGR) occur in triploid pregnancies. We performed karyotype analyses of 75 spontaneous abortions and 1,114 amniotic fluid cultures by conventional methods between 2002 and 2005 at our cytogenetics laboratory. Triploidy was detected in five spontaneous abortions and four amniotic fluid samples. Abortions were between the 9th and 13th weeks of pregnancy, and cytogenetic analyses revealed a 69, XXY karyotype in four of the aborted fetuses and a 69, XXX karyotype in one. Amniotic fluid cell cultures revealed a 69, XXX karyotype in three cases and 69, XXY in one. Amniocentesis was performed in four patients because of an increased trisomy 18 risk detected in maternal serum screening. In pregnant women undergoing second trimester amniocentesis, increased risk for trisomy 18 may be due to triploidy and should be taken into account during genetic counseling.
Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and Herzegovina
Authors: Heljić S , Hadžagić-Ćatibušić F , Maksić H , Terzić S , Đozić M , Mačkić M , Ćatović A 
Published: May 2008

Wolf-Hirschhorn Syndrome: Report of two Cases in Bosnia and HerzegovinaWolf-Hirschhorn syndrome (WHS) is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 (4p-). The main phenotypic characteristics of WHS are: intrauterine growth retardation, mental retardation, typical facial dysmorphism, microcephaly and midline fusion defects (cleft lip or palate, cardiac septal defects). Other abnormalities, such as agenesis of the corpus callosum, dysplastic kidneys, iris coloboma and skeletal abnormalities have occasionally been described.We describe two female newborn babies with a 4p deletion, who have a majority of the main phenotypic features of WHS. Prenatal diagnosis of the syndrome is very important, because dysmorphologic features are associated with profound mental retardation. Postnatal recognition of the syndrome requires genetic counseling of the parents and supportive multidisciplinary treatment.
Nasal encephalocele in a child with Beckwith–Wiedemann syndrome
Authors: Broekman Marike L. D. , Hoving Eelco W. , Kho Kuan H. , Speleman Lucienne , Han K. Sen , Hanlo Patrick W. 
Published: June 2008

✓ Beckwith–Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed and who was subsequently treated for a nasal encephalocele.
Because the authors believe that this feature might not be an incidental finding in patients with BWS, intranasal masses in these patients should be carefully differentiated, as complications might be severe.
Einsatzmöglichkeiten von Plantagenholz | Possibilities for the use of plantation wood
Authors: Knust Christine , Haller Peer , Krug Detlef , Tobisch Steffen 
Published: June 2008

In addition to the use of plantation wood for energy, wood from short-rotation plantations can also be used for the production of construction wood and fiberboard. For energy, often wood chips are produced which can be used as fuel in domestic heaters or in combined heat and power plants. Furthermore, wood chips can be processed into second generation fuel (biomass to liquid, cellulasic ethanol). Poplar wood can also be processed into wooden tubes which can be used as supporting construction elements. This process is based on compression followed by deformation while the cell structure remains intact. Such wooden tubes allow an 80% reduction of the material compared to conventional supporting wood elements. Poplar wood can also be used for MDF and HDF production. Tests at the Institut für Holztechnologie Dresden (IHD) have shown that such boards made out of poplar wood meet the DIN EN 622-5 standard with respect to strength and stiffness with very small values for thickness swelling. The formaldehyde emissions from poplar fiber plates are significantly lower compared to similar plates made out of pine wood.
Poplar wood from short-rotation plantations fulfills the technical requirements for the processing of construction elements and MDF, which opens a large economic potential.
Enzyme‐Responsive Nanoparticle Systems
Authors: Ghadiali James E. , Stevens Molly M. 
Published: June 2008

AbstractInorganic nanoparticles and their accompanying diverse physical properties are now virtually in routine use as imaging tools in cell‐biology. In addition to serving as excellent contrast agents, their size‐ and environment‐dependent optical and magnetic properties can be harnessed to create enzyme biosensor devices of extremely high sensitivity, whilst circumventing the numerous technical limitations associated with traditional enzyme assays. In this Research News article we discuss recent advances in field of enzyme‐responsive nanoparticle systems, where the activity of an enzyme elicits a specific response in the nanoparticle assembly to produce a signal relating to enzyme activity, focusing on three important systems: DNA‐structured nanoparticles, protein kinases and proteases.
Silicosis mortality among young adults in the United States, 1968–2004
Authors: Mazurek Jacek M. , Attfield Michael D. 
Published: June 2008

AbstractBackgroundTo describe silicosis deaths in young (aged 15–44) adults in the U.S. during 1968–2004.MethodsWe analyzed the National Center for Health Statistics multiple cause‐of‐death records.ResultsCompared with silicosis decedents aged ≥45 years (n = 15,643), young decedents (n = 237) were more likely to have silicosis listed as the underlying cause of death (74.3% vs. 48.2%, P < 0.001), to be female (9.3% vs. 2.2%, P < 0.001) and black (37.1% vs. 11.7%, P < 0.001). Twenty‐nine young silicosis decedents had industry and occupation information available. Occupations in construction and manufacturing industries were associated with significantly elevated proportionate mortality ratios for young silicosis deaths.ConclusionsSilicosis deaths occur among young adults. Because these deaths are likely to reflect more intense and recent exposures, the follow‐back investigations into the work sites where these individuals were exposed to silica should be conducted. Am. J. Ind. Med. 51:568–578, 2008. Published 2008 Wiley‐Liss, Inc.
Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus–Merzbacher‐like disease
Authors: Ruf Nico , Uhlenberg Birgit 
Published: June 2008

AbstractPelizaeus–Merzbacher‐like disease (PMLD) is a heterogeneous disease with primary hypomyelination of the central nervous system. Only the minority of patients have mutations in the coding region of the GJA12 gene encoding gap junction protein alpha 12, a subunit of intercellular channels highly expressed by oligodendrocytes, the myelin forming cells of the central nervous system. No other gene has been found so far to be mutated in PMLD besides GJA12. We therefore extended the mutational screening in the GJA12 gene, searched for alternative first exons—as described in mice—determined the human 5′‐end of the gene, screened therein for mutations and analyzed for copy number variations of the GJA12 gene in 14 patients with PMLD. Unlike in mice we did not find alternative first exons but detected a unique 79 bp first exon in human adolescent brain and spinal cord. No mutation in this non‐coding region was found in our cohort. Copy number variation of the GJA12 gene was assessed by real‐time PCR TaqMan® gene expression technology, but neither patient showed an aberrant copy number. These data confirm that GJA12 alterations are a rare cause of PMLD—even after extending the screening for copy number variation and for mutations in the non‐coding region of GJA12. Full genome scans in informative families and further screenings of candidate genes are feasible approaches to elucidate the genetic background of the majority of patients with PMLD. © 2008 Wiley‐Liss, Inc.
Association study between thePIK4CAgene and methamphetamine use disorder in a Japanese population
Authors: Kanahara Nobuhisa , Miyatake Ryosuke , Sekine Yoshimoto , Inada Toshiya , Ozaki Norio , Iwata Nakao , Harano Mutsuo , Komiyama Tokutaro , Yamada Mitsuhiko , Sora Ichiro , Ujike Hiroshi , Iyo Masaomi , Hashimoto Kenji 
Published: June 2008

AbstractAccumulating evidence suggests that phosphatidylinositol (PI) pathways have been involved in the secretion of dopamine (DA) and the regulation of DA transporter, which is a target of methamphetamine (METH). A recent large‐scale gene‐association study in a Dutch population demonstrated that thePIK4CAgene was closely linked to schizophrenia [Jungerius et al. (2007); Mol Psychiatry]. Here, we conducted a case (N = 232)–control (N = 233) study of thePIK4CAgene on Japanese METH abusers, which can manifest severe psychosis similar to schizophrenia. The genotype and allelic distributions of all four single nucleotide polymorphisms (SNPs) did not differ significantly between the METH abusers and the controls. The comparisons based on the classification of the psychosis as transient or prolonged and on the presence or absence of spontaneous relapse revealed no significant distribution of the four SNPs compared to the controls. Furthermore, haplotype analyses showed almost the same frequencies between the METH abusers and the controls. The present study suggests that thePIK4CAgene does not play a significant role in the vulnerability to METH use disorder in the Japanese population. © 2008 Wiley‐Liss, Inc.
Examining the extinction risk of specialized folivores: a comparative study of Colobine monkeys
Authors: Kamilar Jason M. , Paciulli Lisa M. 
Published: June 2008

AbstractSpecies extinctions are nonrandom with some taxa appearing to possess traits that increase their extinction risk. In this study, eight predictors of extinction risk were used as independent variables to predict the IUCN category of a subfamily of specialized folivorous primates, the Colobinae. All data were transformed into phylogenetically independent contrasts and were analyzed using bivariate regressions, multiple regression, and a maximum likelihood approach using Akaike's Information Criterion to assess model performance. Once an outlier was removed from the data set, species that devote a smaller proportion of their diet to mature leaf consumption appear to be at a greater risk of extinction. Also, as female body mass increases, so does extinction risk. In contrast, as maximum latitude and the number of habitat types increase, extinction risk appears to decrease. These findings emphasize the importance of examining detailed dietary variation for predicting extinction risk at a relatively fine taxonomic scale and, consequently, may help improve conservation management. Am. J. Primatol. 70:816–827, 2008. © 2008 Wiley‐Liss, Inc.
Characterizing human–macaque interactions in Singapore
Authors: Fuentes Agustín , Kalchik Stephanie , Gettler Lee , Kwiatt Anne , Konecki McKenna , Jones‐Engel Lisa 
Published: June 2008

AbstractPrevious studies have noted substantial human–macaque interactions involving physical contact in Bali, Indonesia; Gibraltar; and Mt. Emei, China [Fuentes, American Journal of Primatology 68:880–896, 2006; Zhao, Tibetan macaques, visitors, and local people at Mt. Emei: problems and countermeasures. In: Paterson and Wallis, editor. Commensalism and conflict: the human–primate interface. Norman, OK: American Society of Primatologists. p 376–399, 2005]. The aim of this study was to conduct preliminary observations in order to begin to characterize interaction patterns between humans and long‐tailed macaques (Macaca fascicularis) in Singapore. Unlike Bali, Gibraltar, and Mt. Emei, Singapore occasionally enforces fines and penalties and engages in an education campaign in an effort to minimize physical contact between humans and macaques. Observers stationed at two sites in Singapore conducted 92 5 hr of observation that included 730 human–macaque interactions over 16 days. Data recorded include interaction characteristics, demographic and behavioral variables, presence of feeding by humans, and presence of automobiles. Although feeding by humans was relatively infrequent overall, it generally occurred most often by individuals in cars and when human children were present. Data analysis suggests that interactions involving physical contact between macaques and humans are rare in Singapore, in contrast to the findings from Bali, Gibraltar, and Mt. Emei. This low level of physical contact suggests a low risk of macaque–human pathogen transmission in Singapore. Am. J. Primatol. 70:879–883, 2008. © 2008 Wiley‐Liss, Inc.
Effects of vanillin and plasticizer on properties of chitosan‐methyl cellulose based film
Authors: Sangsuwan Jurmkwan , Rattanapanone Nithiya , Rachtanapun Pornchai 
Published: June 2008

AbstractChitosan‐methyl cellulose based films which incorporatate vanillin as an antimicrobial agent and polyethylene glycol 400 (PEG) as a plasticizer were developed in this study. The effects of vanillin and plasticizer concentration on mechanical, barrier, optical, and thermal properties of chitosan‐methyl cellulose film were evaluated. When the vanillin concentration was increased at a given PEG level, film flexibility decreased while tensile strength increased slightly. Vanillin increased the barrier to oxygen but not water vapor. Increasing vanillin content resulted in less transparency and a more yellowish tint. The bulky nature of vanillin reduced film crystallization. When PEG concentration was increased at a given vanillin level, it resulted in greater film flexibility but reduced film strength. Water vapor permeability (WVP) and oxygen permeability (OP) increased with increase in PEG content. PEG contributed less to the opacity, yellowness, and crystallization of the film than did vanillin. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Effect of glucose crosslinking on thermomechanical properties and shape memory effect of PET‐PEG copolymers
Authors: Chung Yong‐Chan , Shim Yong Shik , Chun Byoung Chul 
Published: June 2008

AbstractPoly(ethylene terephthalate) (PET) and poly (ethylene glycol) (PEG) copolymers crosslinked with glucose as a crosslinker are prepared to improve their mechanical and shape memory properties compared to the one without crosslinking. Composition of PEG and glucose is varied to search for the one with the best mechanical and shape memory properties. The highest shape recovery rate is found in the copolymer composed of 25 mol % PEG‐200 and 2.0 mol % glucose. The result that crosslinking by glucose improves the shape recovery rate and supports the high shape recovery rate under the repetitive cyclic test conditions, compared to the one without crosslinking, will be discussed in the points of the structure and shape memory mechanism. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008
Mandibular Fossa Morphology in the Ngandong and Sambungmacan Fossil Hominids
Authors: Durband Arthur C. 
Published: June 2008

AbstractThere has been debate in recent years concerning the significance of the mandibular fossa morphology in the Ngandong and Sambungmacan hominids. These fossils lack a postglenoid process and their squamotympanic fissure runs along the apex of the fossa for its entire length. This configuration differs from that seen in other fossil and modern humans, which have a prominent postglenoid process and a squamotympanic fissure that takes a more posterior course that does not lie in the apex of the fossa. Some recent studies have suggested that the Ngandong and Sambungmacan hominids are not unique in their expression of these characteristics, and that they can also be found in other fossil crania from Africa and Indonesia. The present study reexamines these morphologies in an effort to better understand their distribution in the hominid fossil record. The results confirm that the lack of a prominent postglenoid process in combination with a squamotympanic fissure that lies wholly in the apex of the mandibular fossa along its entire length is indeed autapomorphic for the Ngandong and Sambungmacan fossils. This finding, in conjunction with work on other nonmetric features in these hominids, suggests that at least two hominid morphs, possibly representing separate species, were present on Java during the Pleistocene. In addition, if this apparent autapomorphy is confirmed, then it is also unlikely that the Ngandong hominids contributed to the gene pool of modern humans. Anat Rec, 2008. © 2008 Wiley‐Liss, Inc.
Protective Effect of Glutathione Against Liver Warm Ischemia‐Reperfusion Injury in Rats is Associated with Regulation of P‐Selectin and Neutrophil Infiltration
Authors: Xue Fei , Wang Guangtian , Pang Zhigang , Liu Chao , Liang Tingbo 
Published: June 2008

AbstractWe examined the effects of glutathione (GSH) preconditioning through the portal vein on rat warm liver ischemia reperfusion injury (I/R injury) and investigated the mechanisms involved. In rats with warm liver I/R injury, administration of GSH by means of the portal vein before ischemia increased the 7‐day survival rates of rats after liver I/R from 38% to 75%. This effect was correlated with significantly improved liver function, depressed MDA content in the liver and fewer histologic features of hepatocyte injury. Intrahepatic expression of P‐selectin and infiltration of neutrophils were increased significantly after liver I/R. GSH pretreatment decreased intrahepatic MPO content and the expression of P‐selectin. However, it did not significantly affect the mRNA levels for P‐selectin after liver I/R. Thus, preconditioning with GSH protects the liver against I/R injury by a mechanism dependent on free radical species scavenging, down‐regulation of adhesion molecule expression and inhibition of neutrophil accumulation. These findings document the potential clinical utility of GSH to improve the overall success of diverse procedures, such as liver surgery and liver transplantation. Anat Rec, 291:1016–1022, 2008. © 2008 Wiley‐Liss, Inc.
Newly Revealed Cricothyropharyngeus Muscle in the Human Laryngopharynx
Authors: Mu Liancai , Sanders Ira 
Published: June 2008

AbstractHumans have a uniquely curved pharynx and tongue that is believed to have evolved for speech. The most inferior part of the pharynx consists of the laryngopharynx, the critical crossroad where swallowing, breathing, and phonation overlap. We hypothesized that the human laryngopharynx has unique neuromuscular specializations that may be speech related. Laryngopharynx specimens from 15 humans and 20 nonhuman mammals (dog, pig, rabbit, and rat) were studied. Microdissection revealed that only human specimens had a muscle originating from the anterior arch of the cricoid cartilage, and coursing between the inferior pharyngeal constrictor and cricopharyngeus muscles to insert into the median raphe at the posterior midline of the pharynx. On the basis of these anatomic features, we termed it the “cricothyropharyngeus” (CTP). The structure, innervation, and muscle fiber types of the human CTP were further investigated by histological methods, Sihler's stain, and myosin heavy chain (MHC) immunocytochemistry. The innervation and muscle fiber types of the CTP were found to differ from those of neighboring muscles. The laryngeal portion of the CTP was innervated by the external superior laryngeal nerve, whereas the pharyngeal portion of the muscle was supplied by the pharyngeal plexus. Most notable was that the CTP contained specialized muscle fibers expressing some unusual MHC isoforms (i.e., slow‐tonic, α‐cardiac, neonatal, and embryonic). In conclusion, the CTP appears to be a newly described and uniquely human muscle with characteristics suggesting a specialized function that may be speech related. Anat Rec, 291:927–938, 2008. © 2008 Wiley‐Liss, Inc.