bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chlamydia psittaci infection and clinicopathologic analysis of ocular adnexal lymphomas in Korea
Authors: Yoo Changhoon , Ryu Min‐Hee , Huh Jooryung , Park Ji Hyun , Kang Hye Jin , Ahn Hyo Sook , Lee Yongjae , Kim Myoung Joon , Lee Hyoungnam , Kim Tae Won , Chang Heung Moon , Lee Jae‐Lyun , Kang Yoon‐Koo 
Published: June 2007

AbstractOcular adnexal lymphoma (OAL) is a mostly extranodal marginal zone lymphoma (EMZL). Recent findings have suggested an association between Chlamydia psittaci (Cp) infection and OAL. We sought to confirm this issue and to analyze the clinicopathologic characteristics of OAL in Korea. Between 1993 and 2004, 33 OAL cases were identified at the Asan Medical Center, Seoul, Korea. DNA was extracted from paraffin‐embedded tissues, and touchdown enzyme time release polymerase chain reaction was performed to identify three Chlamydia species (Cp, C. tracomatis, and C. pneumoniae). The same procedures were also performed in 21 samples from patients with non‐neoplastic ocular adnexal disease (NNOAD). All OAL cases were EMZL. Cp DNA was detected in 26/33 (79%) OAL samples compared with 5/21 (23%) NNOAD samples (P < 0.001). With a median follow‐up of 38.5 months (range: 1–105 months), the 5‐year progression‐free survival (PFS) and overall survival (OS) rates of OAL patients were 72% and 93%, respectively. Clinicopathologic characteristics, recurrence rate, PFS, and OS were not associated with Cp infection. Our study demonstrates an association between OAL and Cp infection in Korea, suggesting that Cp plays a role as a causative antigen in Korean OAL patients. Am. J. Hematol., 2007. © 2007 Wiley‐Liss, Inc.
The impact of major surgery on blood coagulation factors and thrombin generation
Authors: Horne McDonald K. , Merryman Paula K. , Cullinane Ann M. , Nghiem Khanh , Alexander H. Richard 
Published: June 2007

AbstractWe studied the blood coagulation system of 14 patients with metastatic malignancies before and after they had undergone major surgery. In addition to measuring a battery of coagulation factors, we assessed the function of the system with assays of whole blood thrombin generation. With the exceptions of factor VIII (fVIII), which increased, and fibrinogen and fIX, which did not change, the activities of all the pro‐ and anticoagulant proteins were significantly lower postoperatively. However, the thrombin generating capacity of the system was relatively preserved. Although the integral of thrombin activity over time was lower after surgery, the mean peak thrombin concentration was unchanged and the time to clot formation was shortened. Similar changes could be reproduced by lowering the concentrations of pro‐ and anticoagulant factors together in control blood samples. Therefore, simultaneous reductions in pro‐ and anticoagulant proteins postoperatively worked to maintain the functional integrity of the blood coagulation system. Am. J. Hematol., 2007. Published 2007 Wiley‐Liss, Inc.
Crypt loss is a marker of clinical severity of acute gastrointestinal graft‐versus‐host disease
Authors: Melson Joshua , Jakate Shriram , Fung Henry , Arai Sally , Keshavarzian Ali 
Published: June 2007

AbstractBackground: Crypt loss is a histological finding in acute gastrointestinal Graft‐Versus‐Host Disease (GI‐GvHD) of undefined clinical significance. Methods: Colonic crypt loss was graded in twenty‐three patients treated for GI‐GvHD following stem cell transplantation and then correlated with clinical parameters of disease severity and mortality. Results: Crypt loss was present in 17/23 cases, and in 11/23 cases crypt loss was deemed severe by the presence of contiguous areas of crypt loss. Nine of 11 patients with severe crypt loss had daily stool volumes in excess of 1000 ml/day, while only 3/12 of those with minimal or no crypt loss had this level of severe diarrhea. All 11 patients with severe crypt loss had a pathologic appearance at endoscopy and 10/11 had steroid refractory disease. Diarrhea resolved in only 3/9 patients with severe crypt loss. Five out of 10 patients (50%) with severe crypt loss expired within 15 months of diagnosis. All five deaths were attributable to the progression of GvHD itself or infection in the presence of continued GI‐GvHD. Conversely, only 1 of 12 patients (8%) with mild or no crypt loss had a death attributable to GvHD or infection. Conclusions: This study shows that severe colonic crypt loss predicts severe clinical GI‐GvHD that is more likely to be refractory to steroid treatment. In addition, crypt loss severity appears associated with higher mortality related to GvHD. Crypt loss can serve as a tool to predict clinically severe GI‐GvHD. Am. J. Hematol. 82:881–886, 2007. © 2007 Wiley‐Liss, Inc.
Molecular study in Brazilian cochlear implant recipients
Authors: Christiani Thalita Vitachi , Alexandrino Fabiana , de Oliveira Camila Andréa , Amantini Regina Célia Bortoleto , Bevilacqua Maria Cecília , Filho Orozimbo Alves Costa , Porto Paulo , Sartorato a. Edi Lúcia 
Published: June 2007

AbstractThe most common form of non‐syndromic autosomal recessive deafness (NSRD) is caused by mutations in the GJB2 gene. Recently, a deletion truncating the GJB6 gene, called del(GJB6‐D13S1830) has also been described normally accompanying mutations in another allele of the GJB2 gene. Among all the mutations described to date, 35delG in the GJB2 gene is the most common. Preliminary data suggest that pathologic changes due to GJB2 mutations do not affect the spiral ganglion cells, which are the site of stimulation of the cochlear implant. Besides, the survival of the spiral ganglion cells is believed to be an important determinant of the outcome after surgery. Therefore, we have studied 49 non‐syndromic deaf patients with unknown etiologies in order to determine the prevalence of GJB2 and GJB6 gene mutations in patients undergoing cochlear implantation surgery. Also, the molecular studies were performed using polymerase chain reaction amplification and direct sequencing. As a result, we found 19 individuals with GJB2 mutation including one new mutation (K168R), one patient homozygous for the del(GJB6‐D13S1830). These results establish that genetic screening can provide an etiologic diagnosis, and may help with prognosis after cochlear implantation, as has been hypothesized in previous studies. © 2007 Wiley‐Liss, Inc.
Molecular cytogenetic investigation of a balanced complex chromosomal rearrangement carrier ascertained through a neonate with partial trisomies of 13 and 22
Authors: Park Ji Kwon , Lee Jae Ik , Jo Hyun Cheol , Shin Jeong Kyu , Choi Won Jun , Lee Soon Ae , Lee Jong Hak , Paik Won Young 
Published: June 2007

AbstractComplex chromosomal rearrangement (CCR) is a structural abnormality of chromosomes that rarely appears in individuals with normal phenotypes. A CCR involving chromosomes 9, 13, and 22 was ascertained in a phenotypically normal woman through a neonate with multiple congenital malformations and partial trisomies of 13 and 22. We diagnosed the CCR using high‐resolution chromosome analysis and three‐color fluorescence in situ hybridization (three‐color FISH) analysis, and ascertained a balanced CCR without cryptic imbalances using array comparative genomic hybridization (array CGH) and FISH. In the present work, we report on the case together with a literature review. © 2007 Wiley‐Liss, Inc.
Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: Evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain
Authors: Makishima Tomoko , Madeo Anne C. , Brewer Carmen C. , Zalewski Christopher K. , Butman John A. , Sachdev Vandana , Arai Andrew E. , Holbrook Brenda M. , Rosing Douglas R. , Griffith Andrew J. 
Published: June 2007

AbstractDominant, truncating mutations of eyes absent 4 (EYA4) on chromosome 6q23 can cause either nonsyndromic hearing loss DFNA10 or hearing loss with dilated cardiomyopathy (DCM). It has been proposed that truncations of the C‐terminal Eya domain cause DFNA10 whereas upstream truncations of the N‐terminal variable region cause hearing loss with DCM. Here we report an extended family co‐segregating autosomal dominant, postlingual‐onset, progressive, sensorineural hearing loss (SNHL) with a novel frameshift mutation, 1490insAA, of EYA4. The 1490insAA allele is predicted to encode a truncated protein with an intact N‐terminal variable region, but lacking the entire C‐terminal Eya domain. Clinical studies including electrocardiography, echocardiography, and magnetic resonance imaging (MRI) of the heart in nine affected family members revealed no DCM or associated abnormalities and confirmed their nonsyndromic phenotype. These are the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation position with the presence or absence of DCM. These results will facilitate the counseling of patients with these phenotypes and EYA4 mutations. Published 2007 Wiley‐Liss, Inc.
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene
Authors: Ørstavik Karen Helene , Knudsen Gun Peggy S. , Nordgarden Hilde , Ormerod Eli , Strømme Petter , Lazarou Lazarous P. , Rosser Lyndon G. , Prescott Trine , Houge Gunnar 
Published: June 2007

AbstractX‐linked hypohidrotic ectodermal dysplasia (XLHED) is caused by mutations in the EDA gene. A girl with severe hypohidrotic ectodermal dysplasia and normal mental development had completely skewed X chromosome inactivation with only the paternal X active in peripheral blood cells. Routine chromosome analysis and sequencing of the EDA gene were normal. However, whole chromosome painting revealed a 9;X insertion. FISH analyses with BAC probes towards the EDA gene and the more distal region containing the XIST locus showed that an X chromosome fragment of at least 4 Mb containing XIST was inserted into 9p13 in conjunction with a de novo pericentric inversion of chromosome 9. The proximal breakpoint was within the EDA gene and the distal breakpoint was distal to the XIST locus. Both parents had normal chromosomes, and the mother had random X inactivation in peripheral blood cells. Because XIST was lacking on the X chromosome with the disrupted EDA gene, the normal X chromosome was inactivated resulting in severe XLHED. © 2007 Wiley‐Liss, Inc.
Pelizaeus‐Merzbacher syndrome: Neurocognitive function in a family with carrier manifestations
Authors: Marble Michael , Voeller Kytja S. , May Melanie M. , Stevenson Roger E. , Schwartz Charles E. , Simensen Richard J. 
Published: June 2007

AbstractA Cajun Kindred with Pelizaeus‐Merzbacher disease was found to have a p.Q128X mutation in exon 3B of proteolipid protein 1 (PLP1). The affected males were globally delayed in development, nonambulatory, and severely dysarthric. The heterozygous females developed progressive gait disturbances and cognitive deterioration starting in the fourth decade of life. The average IQ (Stanford‐Binet Intelligence Scale: 4th Edition (SBFE)) of the carrier females was 54.2, compared to the average IQ of 97.5 in nonaffected relatives. The X‐inactivation ratios in the three carrier females were not markedly skewed (55:45, 70:30, and 85:15). The presence of neurological and cognitive deterioration in the three carriers deviates from the usual expectation that carrier expression only occurs in families when males are mildly affected. © 2007 Wiley‐Liss, Inc.
Clinical and genetic analysis of two Tunisian otosclerosis families
Authors: Ali Insaf Bel Hadj , Thys Melissa , Beltaief Najeh , Schrauwen Isabelle , Dieltjens Nele , Vanderstraeten Kathleen , Besbes Ghazi , Mnif Emna , Hachicha Slah , Arab Saïda Ben , Camp Guy Van 
Published: June 2007

AbstractOtosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3–0.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes COL1A1 and COL1A2, and NOG gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the OTSC3 region on chromosome 6p21.3–p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis. © 2007 Wiley‐Liss, Inc.
Hepatoblastoma and heart transplantation in a patient with cardio‐facio‐cutaneous syndrome
Authors: Al‐Rahawan Mohamad M. , Chute Deborah J. , Sol‐Church Katia , Gripp Karen W. , Stabley Deborah L. , McDaniel Nancy L. , Wilson William G. , Waldron Peter E. 
Published: June 2007

AbstractCardio‐facio‐cutaneous syndrome (CFC) and Costello syndrome (CS) are disorders with an overlapping spectrum of congenital anomalies. Mutations in the RAS‐MAPK pathway have recently been reported in both of these syndromes, with HRAS mutations characteristic for CS and BRAF and MEK1/2 mutations for CFC. We report on a 3‐year‐old boy who underwent a cardiac transplant at age 8 months for hypertrophic cardiomyopathy; he was subsequently suspected to have CS. At age 35 months he presented with an intra‐cardiac mass that was diagnosed as metastatic hepatoblastoma. Although hepatoblastoma is not known to have an increased frequency in immunocompromised patients, questions were raised as whether the post‐transplant immuno‐suppressive therapy played a role in tumor development. The patient died shortly thereafter and his post‐mortem DNA analysis revealed a MEK1 mutation (Y130C) previously reported in CFC. While CS is associated with increased cancer risk, only a single case of leukemia has been reported in a patient with CFC, making this the first case of a solid tumor reported in a patient with CFC. © 2007 Wiley‐Liss, Inc.
Final adult height in children with Prader–Willi syndrome with and without human growth hormone treatment
Authors: Angulo Moris A. , Castro‐Magana Mariano , Lamerson Michele , Arguello Raul , Accacha Siham , Khan Asjad 
Published: June 2007

AbstractShort stature is characteristic of children with Prader–Willi syndrome (PWS). While previous studies have demonstrated acceleration of linear height velocity with growth hormone (GH) treatment, the long‐term benefit on final adult height (AH) has not been reported. The objective of this study was to compare AH attained in PWS subjects with and without GH treatment. We reviewed the records of 21 children (aged 8.3 ± 2.7 years) with PWS and confirmed GH deficiency that attained AH after receiving human GH treatment (0.25 ± 0.06 mg/kg/week) for a period of 7.9 ± 1.7 years. A group of 39 non‐GH‐treated adults with matched initial height standard deviation score (SDS) at age 6.8 ± 1.3 years was used as control. In the GH‐treated group the mean initial height and AH‐SDS was −1.9 ± 1.7 and −0.3 ± 1.2 respectively (P < 0.0001), whereas the mean initial and AH‐SDS in the control group was −1.9 ± 1.3 and −3.1 ± 1 respectively (P < 0.0001). Scoliosis was seen in 43% and 39% in the GH‐treated and control group respectively. Premature adrenarche (PA) was noticed in 57% of GH‐treated group. Six subjects in the control group but none of the GH‐treated subjects developed type 2 diabetes mellitus. Our data show that administration of GH to children with PWS restores linear growth and final AH without significant adverse effects other than PA. Further studies will be necessary to determine related morbidity and mortality in individuals with PWS that reached final AH with or without GH treatment. © 2007 Wiley‐Liss, Inc.
A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation
Authors: Ghebranious Nader , Giampietro Philip F. , Wesbrook Frederic P. , Rezkalla Shereif H. 
Published: June 2007

AbstractMany multiple congenital anomalies (MCA) are caused by recombination between homologous segmental duplications. In this report, we describe a novel “de novo” microdeletion in male monozygotic twins presenting with aortic valve abnormality, seizure disorder, and mild mental retardation. Using array based comparative genomic hybridization, we mapped the microdeletion to the short arm of chromosome 16 at 16p11.2 and refined it using hemizygosity mapping to about 593 kb, a region that overlaps with 24 genes. The most probable mechanism for this microdeletion is through a specific intrachromosomal recombination between two, nearly identical, segmental duplications each spanning 147 kb that are flanking the microdeletion. Based on the phenotypes presented in the twins and what is known about the genes within the 16p11.2 microdeletion, we identified several genes that are strong candidates for the normal development of the aortic valve, as well as the development of seizure disorder and mental retardation. © 2007 Wiley‐Liss, Inc.
Reconstructing infant weaning histories at Roman period Kellis, Egypt using stable isotope analysis of dentition
Authors: Dupras Tosha L. , Tocheri Matthew W. 
Published: June 2007

AbstractStudies of infant feeding and weaning patterns in past populations that rely on a cross‐sectional approach must make the assumption that no infant mortality bias exists. Previous investigations of infant weaning patterns at the Dakhleh Oasis, Egypt, relied on cross‐sectional isotope data. In this study, we re‐examine this weaning pattern, using a simulated longitudinal approach, which does not require any assumptions regarding potential infant mortality biases. This involves examining the dental isotopic signatures of individuals who survived the weaning process. Stable isotope signatures from juveniles and adults (102 individuals, 297 teeth) were examined to reconstruct the weaning history of those that survived the weaning process. Both deciduous and permanent teeth were sampled. Homogenized enamel and dentin samples were isolated from each tooth and analyzed for δ13Cap and δ18Oap from the enamel and δ15Ncoll and δ13Ccoll from dentin collagen. We investigate differences between in utero versus postbirth, preweaning versus postweaning, and juvenile versus adult stable isotope values as reflected in the dentition. A random permutation procedure was used to test for statistically significant differences in stable isotope values between tooth types. Statistically significant differences were observed in all stable isotopes between permanent and deciduous teeth, and between early and later forming permanent teeth in δ13Cap and δ15Ncoll isotopes. These results indicate dietary change between in utero and postbirth, and changes occurring during the weaning period. These results provide a more comprehensive picture of infant weaning practices at Kellis and provide further support that complete weaning occurred by 3 years of age. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Environment and morphology in Australian Aborigines: A re‐analysis of the Birdsell database
Authors: Gilligan Ian , Bulbeck David 
Published: June 2007

AbstractPursuant to his major research interest in the cultural ecology of hunter‐gatherers, Birdsell collected an unparalleled body of phenotypic data on Aboriginal Australians during the mid twentieth century. Birdsell did not explicitly relate the geographic patterning in his data to Australia's climatic variation, instead arguing that the observable differences between groups reflect multiple origins of Australian Aborigines. In this article, bivariate correlation and multivariate analyses demonstrate statistically significant associations between climatic variables and the body build of Australians that are consistent with the theoretical expectations of Bergmann's and Allen's rules. While Australian Aborigines in comparison to Eurasian and New World populations can be generally described as long‐headed, linear in build, and characterized by elongated distal limbs, the variation in this morphological pattern across the continent evidently reflects biological adaptation to local Holocene climates. These results add to a growing body of evidence for the role of environmental selection in the development of modern human variation. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
The use of cranial variables for the estimation of body mass in fossil hominins
Authors: Spocter Muhammad A. , Manger Paul R. 
Published: June 2007

AbstractEstimating body mass/size/weight remains a crucial precursor to the evaluation of relative brain size and to achieving an understanding of brain evolution in fossil species. Despite the obvious close association between the metrics of postcranial elements and body mass a number of factors combine to reduce their utility. This study examines the feasibility of cranial variables for predicting body mass. The use of traditional regression procedures, independent contrasts analysis, and variance partitioning all support the hypothesis that cranial variables are correlated with body mass even when taking phylogeny into account, withrvalues typically ranging between 0.52 and 0.98. Body mass estimates derived for fossil hominins using cranial variables are similar to those obtained from previous studies using either cranial or postcranial elements. In particular, upper facial breadth and orbital height display strong predictive capability. Average body masses derived from Least Squares Regression (LSR) equations were used to calculate estimates of body mass for three hominin species. This resulted in estimates of between 30 kg and 47 kg forAustralopithecus africanus, 48 kg and 52 kg forParanthropus robustus, and 75 kg forHomo neanderthalensis. It is proposed that regression equations derived for the order primates are used to estimate body mass for archaic hominins, while hominoid based equations are most suited forHomo. Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.
Brief and precarious lives: Infant mortality in contrasting sites from medieval and post‐medieval England (AD 850–1859)
Authors: Lewis Mary E. , Gowland Rebecca 
Published: June 2007

AbstractThis study compares the infant mortality profiles of 128 infants from two urban and two rural cemetery sites in medieval England. The aim of this paper is to assess the impact of urbanization and industrialization in terms of endogenous or exogenous causes of death. In order to undertake this analysis, two different methods of estimating gestational age from long bone lengths were used: a traditional regression method and a Bayesian method. The regression method tended to produce more marked peaks at 38 weeks, while the Bayesian method produced a broader range of ages and were more comparable with the expected “natural” mortality profiles.At all the sites, neonatal mortality (28–40 weeks) outweighed post‐neonatal mortality (41–48 weeks) with rural Raunds Furnells in Northamptonshire, showing the highest number of neonatal deaths and post‐medieval Spitalfields, London, showing a greater proportion of deaths due to exogenous or environmental factors. Of the four sites under study, Wharram Percy in Yorkshire showed the most convincing “natural” infant mortality profile, suggesting the inclusion of all births at the site (i.e., stillbirths and unbaptised infants). Am J Phys Anthropol, 2007. © 2007 Wiley‐Liss, Inc.