bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q
Authors: Gunn Shelly R. , Mohammed Mansoor , Reveles Xavier T. , Viskochil David H. , Palumbos Janice C. , Johnson‐Pais Teresa L. , Hale Daniel E. , Lancaster Jack L. , Hardies L. Jean , Boespflug‐Tanguy Odile , Cody Jannine D. , Leach Robin J. 
Published: June 2003

AbstractWe report on a 12‐year‐old boy who presented with delayed development and CNS dysmyelination. Genetic studies showed a normal 46,XY karyotype by routine cytogenetic analysis, and 46,XY.ish del(18)(q23)(D18Z1+, MBP−) by FISH using a locus‐specific probe for the MBP gene (18q23). Though the patient appeared to have normal chromosome 18s by repeated high resolution banding analysis, his clinical features were suggestive of a deletion of 18q. These included hearing loss secondary to stenosis of the external auditory canals, abnormal facial features, and foot deformities. FISH studies with genomic probes from 18q22.3 to 18qter confirmed a cryptic deletion which encompassed the MBP gene. In an attempt to further characterize the deletion, whole genome screening was conducted using array based comparative genomic hybridization (array CGH) analysis. The array CGH data not only confirmed a cryptic deletion in the 18q22.3 to 18qter region of approximately 7 Mb, it also showed a previously undetected 3.7 Mb gain of 4q material. FISH studies demonstrated that the gained 4q material was translocated distal to the 18qter deletion breakpoint. The 18q deletion contains, in addition to MBP, other known genes including CYB5, ZNF236, GALR1, and NFATC1, while the gained 4q material includes the genes FACL1 and 2, KLKB1, F11 and MTNR1A. The use of these combined methodologies has resulted in the first reported case in which array CGH has been used to characterize a congenital chromosomal abnormality, highlighting the need for innovative molecular cytogenetic techniques in the diagnosis of patients with idiopathic neurological abnormalities. © 2003 Wiley‐Liss, Inc.
Long‐term follow‐up of a new case of liver glycogen synthase deficiency
Authors: Laberge Anne Marie , Mitchell Grant A. , van de Werve Gerald , Lambert Marie 
Published: June 2003

AbstractWe report a new case of hereditary hepatic glycogen synthase (GS) deficiency (MIM 240600) in a French Canadian girl referred at 7 years of age for a family history of hyperlipidemia. Her initial evaluation incidentally revealed fasting hypoglycemia and ketonuria after a 10‐hr fast with normal growth, development, and physical examination. Additional biochemical findings included fasting hypoalaninemia with elevated plasma branched chain amino acids and postprandial hyperlactatemia. Liver glycogen synthase activity was reduced. Unlike most other reported patients, we observed on three different occasions an increase in fasting plasma glucose levels after glucagon administration during episodes of hypoglycemia. At 13 years of age, her growth and intellect are normal; however, she still has hypoglycemia after 18 hr of fasting. From our patient's course and a review of the literature, we conclude: (A) Usual modes of presentation of GS deficiency are non‐specific symptoms after overnight fasting (7/17), incidental findings (3/17), or positive family history (7/17); (B) Most patients maintain normal growth (8/11) and intellectual abilities (12/15); (C) Fasting hypoglycemia (17/17) and reduced liver glycogen content (9/9) are constant features; (D) Biochemical findings also include postprandial hyperlactatemia (13/13), fasting hyperketonemia (12/12), and fasting hypoalaninemia (8/9); (E) Glucagon response following fasting hypoglycemia is usually reduced or absent (7/8) but can be repeatedly present (1/8); (F) Liver steatosis is frequent (6/6). Although rare, GS deficiency results in a characteristic biochemical profile that, if recognized, should lead promptly to its diagnosis. © 2003 Wiley‐Liss, Inc.
Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma
Authors: Punnett Angela , Teshima Ikuko , Heon Elise , Budning Andrew , Sutherland Joanne , Gallie Brenda L. , Chan Helen S.L. 
Published: June 2003

AbstractRetinoblastoma and Wilms' tumor are rare childhood embryonic tumors associated with loss or inactivation of tumor suppressor genes, RB1 located within 13q14, and WT1 located within 11p13. Interchromosomal insertional translocations occur rarely, and such rearrangements within RB1 or WT1, even rarer. We report a unique family in which an insertional translocation of a chromosomal segment that included band 13q14 inserted into 11p13 caused childhood Wilms' tumor in the father, and whose child developed bilateral retinoblastoma. This is the first case of an insertional translocation that caused both tumors. This insertional translocation had significant consequences for genetic counseling and in utero diagnosis. The estimated risk for an offspring of this father to develop Wilms' tumor is up to 50%, to develop retinoblastoma up to 25%, to have neither tumor 25%, and to have both tumors 0%. © 2003 Wiley‐Liss, Inc.
Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia
Authors: Bellini Carlo , Mazzella Massimo , Arioni Cesare , Campisi Corradino , Taddei Gioconda , Tomà Paolo , Boccardo Francesco , Hennekam Raoul C. , Serra Giovanni 
Published: June 2003

AbstractWe report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural‐pulmonary involvement of this generalized lymph vessel malformation syndrome. © 2003 Wiley‐Liss, Inc.
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina
Authors: Timmreck Lorna S. , Gray Mark R. , Handelin Barbara , Allito Bernice , Rohlfs Elizabeth , Davis Ann J. , Gidwani Gita , Reindollar Richard H. 
Published: June 2003

AbstractThe relationship between cystic fibrosis transmembrane conductance regulator gene (CFTR) mutations and congenital absence of the uterus and vagina (CAUV) was examined. CFTR mutations have previously been associated with congenital bilateral absence of the vas deferens (CBAVD). CBAVD is caused by a disruption in the vas deferens, a Wolffian duct derivative. Because the embryologic development of the Müllerian ducts directly depends on the prior normal development of the Wolffian ducts, the same gene products may be necessary for normal embryologic development of both ductal systems. This study evaluated the role of CFTR mutations in the development of CAUV. DNA samples from 25 patients with CAUV were tested for the presence of 33 of the most common CFTR mutations. Protein‐coding DNA fragments from the CFTR gene were amplified in vitro by the polymerase chain reaction (PCR) and analyzed for mutations using allele‐specific oligonucleotide (ASO) probes. Two patients were heterozygous for CFTR mutations. One was heterozygous for the W1282X mutation and the other was heterozygous for the ΔF508 mutation. The incidence of the 33 CFTR mutations found in the patients with CAUV (8%) was twice that found in the general population (4%), but much less than the incidence of CFTR mutations in men with CBAVD (80%). This data suggests that it is unlikely for CFTR mutations to cause CAUV in females as they cause CBAVD in some males. Furthermore, the data suggest that CAUV in females may be the same disorder as CBAVD in males who do not have CFTR mutations. © 2003 Wiley‐Liss, Inc.
Fetus with an unusual form of nonrhizomelic chondrodysplasia punctata: Case report and review
Authors: Wessels Marja W. , Den Hollander Nicolette J. , De Krijger Ronald R. , Nikkels Peter G.J. , Brandenburg Helen , Hennekam Raoul , Willems Patrick J. 
Published: June 2003

AbstractChondrodysplasia punctata (CDP) is a heterogeneous condition mainly characterized by premature and ectopic calcification of cartilage. Many genetic and nongenetic causes have been described leading to a preliminar etiological classification into defects of peroxisomal metabolism, defects in cholesterol metabolism, and vitamin K (vit K) metabolism. However, numerous cases of CDP still remain unclassified. The difficulties in reaching a causal diagnosis are illustrated here by a 23‐week‐old fetus with nonrhizomelic CDP characterized by extensive cartilage stippling, brachyphalangy, and nasal hypoplasia. © 2003 Wiley‐Liss, Inc.
Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome
Authors: Kondoh Yuki , Toma Takaya , Ohashi Hirofumi , Harada Naoki , Yoshiura Ko‐ichiro , Ohta Tohru , Kishino Tatsuya , Niikawa Norio , Matsumoto Naomichi 
Published: June 2003

AbstractAn 8‐year‐old girl with a combination of clinical manifestations of partial duplication 4p and the Wolf–Hirschhorn syndrome was studied. Chromosomal G‐banding and FISH analyses showed a 33.2‐Mb segment of inverted duplication at 4p14‐p16.3 and a 2.8‐Mb segment of deletion at 4p16.3‐pter (including the Wolf–Hirschhorn syndrome critical region). The chromosomes of the parents were normal. Her karyotype was thus 46,XX, inv dup del(4)(:p14 → p16.3::p16.3 → qter) de novo. The inverted duplication deletion was assumed to have arisen through chromatid breakage at 4p16.3, U‐type reunion at the breakpoints to produce a dicentric intermediate, breakage of the dicentric to result in a monocentric, and telomere capture/healing of the broken end. Olfactory receptor gene clusters at 4p16.3 were ruled out as an intermediary of the duplication deletion process. © 2003 Wiley‐Liss, Inc.
Total field magnetic prospection: are vertical gradiometer measurements preferable to single sensor survey?
Authors: Tabbagh Jeanne 
Published: June 2003

AbstractWhen two sensors are available the prospector can use them either in a gradiometer arrangement or dispose them at the same horizontal level to record two different profiles simultaneously. The processing of one‐sensor data presented here for both synthetic and actual cases gives slightly better results than gradient measurements, which justifies the second solution. Copyright © 2002 John Wiley & Sons, Ltd.
Aerial remote‐sensing techniques used in the management of archaeological monuments on the British Army's Salisbury Plain Training Area, Wiltshire, UK
Authors: Barnes Ian 
Published: June 2003

AbstractSalisbury Plain Training Area, covering 38 000 ha in Wiltshire, southern England, is the UK's largest military training area. Military ownership has protected, from modern agricultural practices, over 2300 archaeological monuments dating from the late prehistoric and Romano‐British periods. Consequently the majority of sites still survive as earthworks.The Defence Estates is tasked with managing this landscape, balancing military, agricultural, archaeological and nature conservation priorities within a national and international legislative framework.The Defence Estates is evaluating the use of airborne LIDAR (light detection and ranging) and CASI (compact airborne spectrographic imager) surveys to map ‘condition’, results being directly transferable to a geographical information system. It is hoped, by comparing successive surveys, that trends can be identified, allowing management decisions to be reached. The work, funded by Headquarters Army Training Estate, is being conducted in partnership with the Environment Agency's National Centre for Environmental Data and Surveillance.An initial trial, covering 40 km2, was held in 2001. The capacity of LIDAR and CASI to identify areas of, and trends in, formation of bare ground, grazing, disturbance (military and animal digging) and scrub infestation was evaluated.Results showed that CASI imagery, particularly when processed as a normalized difference vegetation index (NDVI) image, was ideal for showing bare ground, scrub and levels of grazing, whereas LIDAR provided a means of measuring the magnitude of change. The techniques were less successful at distinguishing disturbed ground such as back‐filled military trenches. Combined LIDAR and CASI images were shown to be ideal media for identifying archaeological earthworks. The potential for the development of automated trend analysis was proved but manual systems were shown to be more appropriate.Development work is continuing and it is hoped to have a remote‐sensing‐based monitoring system in place on Salisbury Plain Training Area in the foreseeable future. Copyright © Crown Copyright 2002. Recorded with the permission of the controller of Her Majesty's Stationery Office. Published by John Wiley & Sons, Ltd.
Archaeomagnetic investigations of Iron Age slags in Denmark
Authors: Abrahamsen Niels , Jacobsen Bo Holm , Koppelt Uwe , de Lasson Philip , Smekalova Tatiana , Voss Olfert 
Published: June 2003

AbstractIn Denmark iron production, by means of reducing bog‐iron ore with charcoal, was carried out at least between the second and seventh century AD. Since the 1960s magnetic mapping of iron slag remains have been used extensively at several sites in the southwestern part of Jutland in Denmark (e.g. at Drengsted, Snorup, Krarup and Yderik). A description of some of the magnetic surveying results, ideas of magnetic modelling, and magnetic and chemical analysis of slag from some of these areas are given. The Danish Iron Age slag pits are strongly magnetic, and consequently they are quite easy to locate magnetically. The slag, however, is often magnetically non‐homogeneous, and accordingly the remanent magnetic direction of the original magnetization is not uniform. Hence individual slag pits are not good recorders of the direction of Earth's magnetic field. Therefore dating of individual slag pits by means of a magnetic mastercurve, using either inversion and modelling of the magnetic field anomaly from the slag, or by using conventional palaeomagnetic techniques by orientated cores, are still difficult to make with sufficient resolution. Copyright © 2002 John Wiley & Sons, Ltd.
Cawthorn Camps, North Yorkshire—a photogrammetric approach
Authors: Stone Jane 
Published: June 2003

AbstractCawthorn Camps is a Roman site of probable late first and early second century date comprising two forts, one with a later annexe, and a camp. The site survives as earthworks and, within the main defences, there are many slight embanked structures. The current programme of research at Cawthorn is a joint initiative between the North York Moors National Park and English Heritage, the aim being to produce a revised management plan for this nationally important site. It is a multidisciplinary project combining the following disciplines: excavation, geophysical prospection, ground and aerial survey. Digital photogrammetry has been used to produce a plan, scale 1 : 500, of the earthworks to a precision of ±10 cm. Copyright © 2002 John Wiley & Sons, Ltd.
The identification of Roman buildings from the air: recent discoveries in Western Transylvania
Authors: Hanson W. S. , Oltean Ioana A. 
Published: June 2003

AbstractAn ongoing programme of archaeological aerial reconnaissance in southwestern Transylvania, the first time such a programme has been conducted in Romania, revealed quite large numbers of negative cropmarks or parchmarks, particularly in the dry summer of 2000. These areas of restricted crop growth indicated the presence of buried stone‐walled buildings, predominantly of Roman date, which were previously unknown. Important discoveries included much of the internal plan of the auxiliary fort at Cigmau; an extensive civil settlement to the east of that fort; buildings within the civil settlements outside the forts at Vetel (Micia) and Razboieni; buildings and property boundaries within the municipium at Apulum (Alba Iulia); and villas at Oarda and Vintu de Jos. By contrast, positive cropmarks, enhanced growth reflecting the existence of buried pits or enclosure ditches, were observed only rarely. Explanations for this phenomenon linked to a bias in the reconnaissance programme or to a general absence of enclosed sites within the archaeological record in the area are rejected. The preferred explanation relates to local soil conditions, whereby the widespread, deep alluvial soils reduce the contrast in moisture content between buried archaeological ditches or pits and the surrounding soil matrix so that positive cropmarks are rarely formed. Copyright © 2003 John Wiley & Sons, Ltd.
A high‐resolution magnetic mosaic at the Kyme archaeological site (Turkey)
Authors: Ciminale Marcello 
Published: June 2003

AbstractAn extended high‐resolution magnetic investigation was undertaken at the archaeological site in Kyme (Turkey). In order to obtain highly resolved digital raster images, the gradient data sets were processed by using digital image processing techniques. In addition to these sets of data, the magnetic field measurements acquired by the bottom sensor alone were also processed. A careful comparison between the gradient data magnetograms and the bottom sensor magnetograms revealed how the entire mosaic, elaborated by processing the bottom sensor data, could fruitfully integrate and improve the information inferred by the vertical gradient magnetograms. Finally, the main archaeological features outlined from this magnetic investigation, as well as the results of a first guided excavation, are presented. Copyright © 2003 John Wiley & Sons, Ltd.
Multidimensional prospecting in North American Great Plains village sites
Authors: Kvamme Kenneth L. 
Published: June 2003

AbstractGeophysical survey results are described for four prehistoric and historic fortified earthlodge settlements located in the Middle Missouri River basin of North and South Dakota, USA. One impetus for this work is the upcoming bicentennial of the Lewis and Clark expedition of 1804–1806 that used the Missouri as its route of travel. Celebrated as an event that helped to open the American West to Euroamerican settlement, tourism at archaeological parks is expected to markedly increase. Multidimensional geophysical surveys were used to pin‐point cultural anomalies for archaeological excavation and interpretation, but more importantly, the wide‐area mapping of the subsurface at these villages allowed visualization of their structure and organization, yielding many new insights. At Menoken Village (AD 1240) previously unknown houses, oval in form, were revealed magnetically owing to their intense burning, as was an intravillage trail system seen in resistivity data. At Whistling Elk Village (AD 1300) the first glimpse of the nature of this deeply buried settlement was achieved by resistivity and conductivity surveys, with magnetic indications that half of the houses had been burned. The geophysical evidence also hints at a second village, much more compact, that may lie within the primary settlement, supporting an attack theory established by limited excavation evidence. At Huff Village (AD 1450) the magnetometry survey revealed the presence of vast numbers of previously unsuspected food storage pits outside of the numerous dwellings that lie within this settlement. At Mitu'tahakto's (1822–1861), an early historic Mandan/Arikara settlement, resistivity and GPR surveys discovered the presence of new and overlapping houses, and magnetometry indicated large differences in the number of iron artefacts between households, pointing to possible variations in access or status. Copyright © 2003 John Wiley & Sons, Ltd.
Anti–c‐Mpl (thrombopoietin receptor) autoantibody–induced amegakaryocytic thrombocytopenia in a patient with systemic sclerosis
Authors: Katsumata Yasuhiro , Suzuki Takahiro , Kuwana Masataka , Hattori Yutaka , Akizuki Satoshi , Sugiura Hitoshi , Matsuoka Yasuo 
Published: June 2003

AbstractAmegakaryocytic thrombocytopenia (AMT) associated with systemic sclerosis (SSc) has been described in several case reports, but the underlying mechanisms have not been identified. Here we describe a rare case of SSc accompanied by thrombocytopenia and megakaryocytic hypoplasia, in which autoantibody against thrombopoietin receptor (c‐Mpl) was detected. A 61‐year‐old woman with limited SSc was admitted to our hospital because of severe thrombocytopenia (platelet count 0.2 × 104/mm3) with gingival bleeding. Her bone marrow was hypocellular with absent megakaryocytes, consistent with AMT. Treatment with corticosteroids and intravenous immunoglobulin infusions resulted in an increased platelet count, and she sustained a remission over a 1‐year period, with a platelet count averaging 10.0 × 104/mm3. Her serum was strongly positive for anti–c‐Mpl antibody, and IgG fraction purified from her serum inhibited thrombopoietin‐dependent cell proliferation in vitro. Our case report suggests that AMT in patients with SSc could be mediated by the anti–c‐Mpl antibody, which functionally blocks an interaction between thrombopoietin and c‐Mpl.
Growth plate damage, a feature of juvenile idiopathic arthritis, can be induced by adenoviral gene transfer of oncostatin M: A comparative study in gene‐deficient mice
Authors: de Hooge Alfons S. K. , van de Loo Fons A. J. , Bennink Miranda B. , Arntz Onno J. , Fiselier Theo J. W. , Franssen Marcel J. A. M. , Joosten Leo A. B. , van Lent Peter L. E. M. , Richards Carl D. , van den Berg Wim B. 
Published: June 2003

AbstractObjectiveTo investigate the involvement of proinflammatory and destructive mediators in oncostatin M (OSM)–induced joint pathology, using gene‐deficient mice.MethodsAn adenoviral vector expressing murine OSM was injected into the joints of naive wild‐type mice and mice deficient for interleukin‐1 (IL‐1), IL‐6, tumor necrosis factor α (TNFα), or inducible nitric oxide synthase (iNOS). Reverse transcription–polymerase chain reaction was used to study gene expression. Inflammation and cartilage proteoglycan (PG) depletion were assessed by histology. OSM and IL‐1 levels in synovial fluid from patients with juvenile idiopathic arthritis (JIA) were measured by enzyme‐linked immunosorbent assay.ResultsAdenoviral expression of murine OSM led to joint inflammation, bone apposition, chondrophyte formation, articular cartilage PG depletion, and VDIPEN neoepitope expression in wild‐type mice. A unique and consistent observation was the focal PG depletion and disorganization of the growth plate cartilage during the first week of inflammation. Synovial IL‐1β, IL‐6, TNFα, and iNOS gene expression was strongly induced. Of these factors, only deficiency in IL‐1 markedly reduced inflammation and PG depletion and completely prevented growth plate damage. In addition, this is the first study in which OSM was detected in JIA synovial fluid. Most samples were also IL‐1β positive.ConclusionIL‐1, but not IL‐6, TNFα, or iNOS, plays an important role in joint disease induced by intraarticular gene transfer of OSM in mice. The effect of OSM on murine connective tissue and the presence of OSM in human synovial fluid make involvement of OSM in human arthropathies very likely.