bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): Importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies
Authors: Kulharya Anita S. , Lovell Carolyn Mills , Flannery David B. 
Published: December 2002

AbstractWe report a patient with a mosaic karyotype resulting from an adjacent 1 segregation of the familial autosomal translocation (11;22). The karyotype seen in fibroblast is 46,XY,der(22)t(11;22)(q23.3;q11.2)/46,XY. No evidence of the abnormal cell line was seen in the cultures obtained from the lymphocytes. The clinical phenotype of the patient does not fit a particular pattern of partial monosomy 22 or partial trisomy 11. There are some features that have been previously reported in patients with trisomy 11q23 → qter. The mosaic karyotype in our patient could be a result of a series of postzygotic mitotic events of a zygote carrying the der(22) chromosome. These mechanisms involve events that are well documented for several chromosomes. This case underscores the necessity of performing exhaustive cytogenetic analysis in patients with an abnormal phenotype with a family history of a chromosome rearrangement in fibroblast cells if lymphocyte analysis is normal. © 2002 Wiley‐Liss, Inc.
DOOR syndrome: Deficiency of E1 component of the 2‐oxoglutarate dehydrogenase complex
Authors: Surendran Sankar , Michals‐Matalon Kimberlee , Krywawych Stephan , Qazi Qutub H. , Tuchman Roberto , Rady Peter L. , Tyring Stephan K. , Matalon Reuben 
Published: December 2002

AbstractFour patients from three families with the clinical features of DOOR syndrome (onycho‐osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2‐oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2‐oxoglutarate decarboxylase (E10) in fibroblasts and white blood cells of the patients is decreased. The activity of E10 in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E10 deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome. © 2002 Wiley‐Liss, Inc.
Ant‐dipping among the chimpanzees of Bossou, Guinea, and some comparisons with other sites
Authors: Humle Tatyana , Matsuzawa Tetsuro 
Published: December 2002

AbstractWe present a detailed study of ant‐dipping among the wild chimpanzees (Pan troglodytes verus) of Bossou, in southeastern Guinea, West Africa. Observations suggest a strong influence of prey (Dorylusspp.) characteristics, including aggressiveness and/or gregariousness, on tool length and technique employed by the chimpanzees. Bossou chimpanzees exhibit two ant‐dipping techniques: 1) direct mouthing, and 2) pull‐through. In addition, they were observed dipping for several species of Dorylus ants, classed into two categories: Red and Black. Tool length was longer when dipping in higher‐risk contexts, i.e., at the ants' nest site or on Black ants. The pull‐through technique was almost exclusively associated with dipping at the nest site. This latter technique was associated with tools over 50cm long, whereas direct mouthing was the only technique observed with tools <50cm long. Our experimental findings, together with our observations on the behavior of the chimpanzees, suggest that at the nest, the pull‐through technique was a more efficient technique than direct mouthing. We review our results in the context of ant‐dipping observed at two other long‐term chimpanzee study sites, i.e., Gombe (Tanzania) and Taï (Côte d'Ivoire), where differences in tool length, technique used, and focal Dorylus ant species have been reported. Finally, we urge similar detailed studies of this tool‐use behavior in both Gombe and Taï to shed further light upon our results and their implications. Am. J. Primatol. 58:133–148, 2002. © 2002 Wiley‐Liss, Inc.
Gravity dependence of ocular drift in patients with cerebellar downbeat nystagmus
Authors: Marti Sarah , Palla Antonella , Straumann Dominik 
Published: December 2002

AbstractDownbeat nystagmus is a frequent ocular motor sign in patients with lesions of the vestibulocerebellum. The upward drift in downbeat nystagmus is a combination of a gaze‐evoked drift, due to an impaired vertical neural integrator, and a velocity bias. Using a three‐dimensional turntable, we analyzed the influence of gravity on these two mechanisms. Patients with cerebellar downbeat nystagmus (n = 6) and healthy subjects (n = 12) were placed in various whole‐body positions along the roll, pitch, and oblique vertical planes of the head. Ocular drift was monitored with scleral search coils. Although there was no gravity dependence of the vertical gaze‐evoked drift, the vertical velocity bias consisted of two components: a gravity‐dependent component that sinusoidally modulated as a function of body position along the pitch plane, and a gravity‐independent component that was directed upward. The combination of the two components led to an overall drift that was minimal in supine and maximal in prone position. In healthy subjects, only the gravity‐dependent component was present, but in a scaled‐down manner. Our results suggest that the intact vestibulocerebellum minimizes an overacting otolith‐ocular reflex elicited by pitch tilt and cancels an inherent upward ocular drift that is independent of gravity‐modulated otolith signals.
Coenzyme Q– responsive Leigh's encephalopathy in two sisters
Authors: Van Maldergem Lionel , Trijbels Frans , DiMauro Salvatore , Sindelar Pavel J. , Musumeci Olimpia , Janssen Antoon , Delberghe Xavier , Martin Jean‐Jacques , Gillerot Yves 
Published: December 2002

AbstractA 31‐year‐old woman had encephalopathy, growth retardation, infantilism, ataxia, deafness, lactic acidosis, and increased signals of caudate and putamen on brain magnetic resonance imaging. Muscle biochemistry showed succinate:cytochrome c oxidoreductase (complex II–III) deficiency. Both clinical and biochemical abnormalities improved remarkably with coenzyme Q10 supplementation. Clinically, when taking 300mg coenzyme Q10 per day, she resumed walking, gained weight, underwent puberty, and grew 20cm between 24 and 29 years of age. Coenzyme Q10 was markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts, suggesting the diagnosis of primary coenzyme Q10 deficiency. An older sister has similar clinical course and biochemical abnormalities. These findings suggest that coenzyme Q10 deficiency can present as adult Leigh's syndrome. Ann Neurol 2002;52:000–000
Rapid modulation of GABA in sensorimotor cortex induced by acute deafferentation
Authors: Levy Lucien M. , Ziemann Ulf , Chen Robert , Cohen Leonardo G. 
Published: December 2002

AbstractRecovery of function after acute injury to the central nervous system may be controlled by the availability of γ‐aminobutyric acid (GABA), the main inhibitory neurotransmitter in the cerebral cortex. Acute lesions as well as manipulation of sensory inputs can lead to rapid reorganization of the cerebral cortex, occurring within minutes to hours. Reduction of cortical inhibitory tone through a decrease in the availability of GABA has been suggested as a possible mechanism; however, the degree and temporal course of the changes in brain GABA are not known. A novel method using two‐dimensional J‐resolved magnetic resonance spectroscopy showed that GABA levels in the human sensorimotor cortex are quickly reduced within minutes of deafferentation. This finding strongly supports the view that the release of latent corticocortical projections from tonic inhibition through decreased GABA availability is a mechanism of rapid cortical plasticity. Reduction of brain GABA can play a pivotal role in regulating the extent of rapid cortical reorganization after lesions or changes in sensory input. Ann Neurol 2002;52:000–000
Late secondary ischemic injury in patients receiving intraarterial thrombolysis
Authors: Kidwell Chelsea S. , Saver Jeffrey L. , Starkman Sidney , Duckwiler Gary , Jahan Reza , Vespa Paul , Villablanca J. Pablo , Liebeskind David S. , Gobin Y. Pierre , Vinuela Fernando , Alger Jeffry R. 
Published: December 2002

AbstractAlthough animal models have demonstrated that late secondary cerebral injury after arterial occlusion and subsequent recanalization may limit the benefit of reperfusion therapy, this phenomenon has not been well characterized in humans. Diffusion‐perfusion magnetic resonance imaging studies were performed before treatment, early after treatment, and at day 7 in patients undergoing vessel recanalization with intraarterial thrombolytics. Among 18 patients studied, mean age was 71 (range, 27–94), and median entry National Institutes of Health Stroke Scale score was 13 (range, 6–25). Early after recanalization, partial or complete normalization of diffusion imaging abnormalities occurred in 8 of 18 (44%) patients. Among the eight patients with early diffusion imaging reversal, late secondary injury by day 7 occurred in 5 (63%), and sustained normalization of all reversed tissue occurred in 3 (38%). Pretreatment apparent diffusion coefficient values were lowest in regions experiencing no reversal (mean apparent diffusion coefficient, 608μm2/sec), intermediate in regions with reversal and secondary decline (617μm2/sec), and highest in regions with sustained reversal (663μm2/sec). There was a trend toward less improvement in neurological deficit in patients with secondary injury versus patients with sustained reversal. In the future, late secondary tissue injury may become an important therapeutic target for postreperfusion neuroprotective therapies, with treatment efficacy monitored by serial diffusion magnetic resonance imaging.
Predictors of ovulatory failure in women with epilepsy
Authors: Morrell Martha J. , Giudice Linda , Flynn Kerry L. , Seale Cairn G. , Paulson Amelia J. , Doñe Silvia , Flaster Edith , Ferin Michel , Sauer Mark V. 
Published: December 2002

AbstractWomen with epilepsy (WWE) are at increased risk for reproductive disorders. This study was designed to evaluate whether WWE are more likely to have anovulatory cycles and to assess the relative association of the epilepsy syndrome category and antiepileptic drugs (AEDs) to ovulatory dysfunction. Subjects included women aged 18 to 40 years not receiving hormones. Women without epilepsy (23 controls) and women with localization‐related epilepsy (LRE, n = 59) or idiopathic (primary) generalized epilepsy (IGE, n = 35) receiving either a cytochrome P450 enzyme (cP450) inducing AED (carbamazepine, phenytoin, and phenobarbital), a cP450 inhibiting AED (valproate), or an AED that does not alter cP450 enzymes (lamotrigine and gabapentin) in monotherapy for 6 months or more were followed for three menstrual cycles. A transvaginal ovarian ultrasound was obtained. Endocrine and metabolic variables were measured and luteinizing hormone sampled over 8 hours on days 2 to 5 of one cycle. Anovulatory cycles occurred in 10.9% of cycles in controls, 14.3% of cycles with LRE, and 27.1% of cycles with IGE. Of women using valproate currently or within the preceding 3 years, 38.1% had at least one anovulatory cycle in contrast with 10.7% of women not using valproate within the preceding 3 years. Predictors of ovulatory failure included IGE syndrome, use of valproate currently or within 3 years, high free testosterone, and fewer numbers of luteinizing hormone pulses, but not polycystic‐appearing ovaries. WWE are more likely to experience anovulatory menstrual cycles and the effects of epilepsy syndrome, and AED therapy may be additive. Women with IGE receiving valproate were at highest risk for anovulatory cycles, polycystic‐appearing ovaries, elevated body mass index, and hyperandrogynism. WWE with anovulatory cycles may have no other signs of reproductive dysfunction. Therefore, clinicians must be alert to this potential complication of epilepsy.
N‐acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy
Authors: Elpeleg Orly , Shaag Avraham , Ben‐Shalom Efrat , Schmid Tal , Bachmann Claude 
Published: December 2002

AbstractCarbamylphosphate synthase is the first enzymatic reaction of the urea cycle. Its activator, N‐acetylglutamate, is synthesized from acetyl‐CoA and glutamate in a reaction catalyzed by N‐acetylglutamate synthase (NAGS). We have identified the putative human NAGS gene and report the first mutation in this gene in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. Mutation analysis has a higher diagnostic specificity than the enzymatic assay in NAGS deficiency. A therapeutic trial with carbamylglutamate is recommended whenever hyperammonemia without an organic aciduria, increased orotate excretion, or diagnostic amino acidemia/uria is detected.
Archaeomagnetic surveys of the anonymous graves in Khosho Tsaidam, Mongolia
Authors: Ates Abdullah 
Published: December 2002

AbstractThere are ancient graves in the Khosho Tsaidam region of Mongolia, in the vicinity of historical Turkish monuments. The geological setting of the region is indicative of a marshland with partitioning of the Orkhun River into two branches. Magnetic surveys were carried out at two of the anonymous graves to decipher their origin and possible relationship with the old Turkish temples. Grey images of the magnetic anomaly maps are produced to enhance the contour maps with reduced ranges. The grey image maps display visible rectangular and square shaped lineaments. In both of the graves, high‐frequency areas, thought to be caused by fired floor tiles, are observed and these features resemble one of the Turkish monuments recently surveyed. Copyright © 2002 John Wiley & Sons, Ltd.
Investigation of a Bronze Age plankway by spectral induced polarization
Authors: Schleifer N. , Weller A. , Schneider S. , Junge A. 
Published: December 2002

AbstractThe induced polarization (IP) method was developed originally for ore exploration. The transition from electronic to electrolytic conduction causes strong polarization effects in ores. However, other porous materials also exhibit polarization effects. They are caused by electrochemical processes at the internal interface between the pore fluid and the mineral grains. Although these effects are one to two orders smaller in size, modern IP equipment is able to resolve these phenomena. Spectral induced polarization (SIP) investigates the polarization effect in a wide frequency range. As a SIP measurement has an identical setup to conventional resistivity survey, a multichannel geoelectrical instrument (SIP‐256) was developed that is able to measure both apparent resistivity and the polarization effect using a multi‐electrode array.The Federsee bog near Lake Konstanz with its optimal preservation conditions is of international importance for archaeology. Pile dwelling settlements dating back to the eneolithicum have been revealed. Wood samples of a Bronze Age plankway (1500–1400 BC) were collected and investigated. The astonishing result of the laboratory measurements was that the samples showed a remarkable polarization effect in the classic frequency range of IP. Wood therefore can be regarded as a polarizable material. As a consequence a SIP survey was performed in order to investigate the plankway. The SIP survey was carried out in a frequency range from 1 to 60 Hz, where the maximum polarization effect in the laboratory was observed. Two profiles were measured, one parallel and one perpendicular to the plankway. In contrast to the result of the resistivity measurement, the plankway could be identified by weakly increased polarization effects. Copyright © 2002 John Wiley & Sons, Ltd.
Soil and susceptibility: aspects of thermally induced magnetism within the dynamic pedological system
Authors: Weston D. G. 
Published: December 2002

AbstractMagnetic surveys now form part of the panoply of techniques used in archaeological investigations. Techniques such as magnetic gradiometry depend on bodies of soil developing enhanced magnetic susceptibilities. This enhancement, whether via heating or by ongoing pedological processes, is due to reduction and oxidation cycles within the soil. The salient point of this paper is that, the soil is a dynamic medium in which iron is subject to ongoing soil process. Several case studies are examined to illustrate these points. Copyright © 2002 John Wiley & Sons, Ltd.
Ground‐penetrating radar survey to map the location of buried structures under two churches
Authors: Leucci Giovanni 
Published: December 2002

AbstractThe range of ground‐penetrating‐radar (GPR) applications is very wide and diverse. Ground‐penetrating radar provides high‐resolution continuous profiles, and it has been used in various fields such as environmental, geology, geotechnical engineering, archaeology, etc.Two surveys with GPR were undertaken inside two churches (the church of St Oronzo and the church of Immacolata) at Novoli village, located a few kilometres northwest of Lecce (Italy). The purpose of the two surveys was to obtain information about the existence of ancient structures beneath the two churches. No document or writing exists to confirm the presence of structures under the two churches. However, there are several oral testimonies handed down over the centuries that suggest the presence of these ancient structures.Both surveys were carried out using a GSSI Sir System2, incorporating 500 MHz centre frequency antenna. The GPR time slices were constructed from closely spaced parallel profiles. The time slices, computed from averaging radar reflections over vertical time windows several nanoseconds thick, are used to map subsoil features associated with the structures, probably of anthropogenic origin.To facilitate the interpretation of the results, a three‐dimensional image was constructed using closely spaced parallel profiles, which are linearly interpolated. Copyright © 2002 John Wiley & Sons, Ltd.
Division of domestic work and psychological distress 1 year after childbirth: a comparison between France, Quebec and Italy
Authors: des Rivières‐Pigeon Catherine , Saurel‐Cubizolles Marie‐Josèphe , Romito Patrizia 
Published: December 2002

AbstractBackground.The participation of men in domestic work should have a positive impact on the wellbeing and mental health of women who are mothers of young children. However, cultural factors, which largely determine the expectations and desires of men and women, are likely to modify this impact. The purpose of this study was to explore differences between countries in the division of child care and housework between couples 1 year after childbirth, and to look at possible differences in the relationship between this division and the psychological health of new mothers.Methods.Similar studies were carried out in three countries: France, Italy and Canada (province of Quebec), making it possible to compare the situation of 1598 women.Results.The results revealed major differences between countries in the division of domestic work. For nearly all the child care and housework tasks studied, answers indicating an unequal division were more frequent in Italy than in France, and more frequent in France than in Quebec. Despite these differences, we found very similar pattern of associations, in the three countries, between the division of domestic work and the mental health of women. An unequal division of child care was linked with psychological distress, but this association was not found for the division of housework.Conclusion.These results raise questions concerning the mechanisms by which the division of domestic work affects the psychological health of new mothers. Copyright © 2002 John Wiley & Sons, Ltd.
Myocardial bridge: A clinical review
Authors: Kalaria Vijay G. , Koradia Nishant , Breall Jeffrey A. 
Published: December 2002

AbstractHuman coronary arteries occasionally course intramyocardially‐a condition termed Myocardial Bridge. We review the anatomic and pathophysiological basis of the Myocardial Bridge and discuss clinical presentations, prognoses and the current treatment options for this interesting coronary angiographic variant. Cathet Cardiovasc Intervent 2002;57:552–556. © 2002 Wiley‐Liss, Inc.
Mechanisms of acute lumen gain following cutting balloon angioplasty in calcified and noncalcified lesions: An intravascular ultrasound study
Authors: Okura Hiroyuki , Hayase Motoya , Shimodozono Shinichi , Kobayashi Toru , Sano Kazuya , Matsushita Toyoaki , Kondo Taizo , Kijima Mikihiko , Nishikawa Hideo , Kurogane Hiroyuki , Aizawa Tadanori , Hosokawa Hiroaki , Suzuki Takahiko , Yamaguchi Tetsu , Bonneau Heidi N. , Yock Paul G. , Fitzgerald Peter J. 
Published: December 2002

AbstractSeveral studies have shown that mechanisms for lumen enlargement following conventional balloon angioplasty (BA) consist of plaque reduction and vessel expansion. To assess the mechanisms of lumen enlargement after Cutting Balloon (CB) angioplasty, intravascular ultrasound images were analyzed in 180 lesions (89 CB and 91 BA). External elastic membrane (EEM) cross‐sectional area (CSA), lumen CSA, and plaque plus media (P+M) CSA were measured before and after angioplasty. In the CB group, lower balloon pressure was utilized (P < 0.0001). ΔP+M CSA was significantly larger (P = 0.02) and Δlumen CSA showed a trend toward being larger (P = 0.07) compared to BA group. For noncalcified lesions, CB resulted in a larger ΔP+M CSA (P < 0.05) and a smaller ΔEEM CSA (P = 0.10) than BA. For calcified lesions, Δlumen CSA was significantly larger in the CB group (P < 0.05) without significant differences in ΔEEM CSA and ΔP+M CSA. Dissections complicated with calcified lesions were associated with larger Δlumen CSA for the CB group. In conclusion, for noncalcified lesions, CB achieves similar luminal dimensions with larger plaque reduction and less vessel expansion compared to BA. On the other hand, for calcified lesions, the CB achieves larger lumen gain, especially in lesions with evidence of dissections. Cathet Cardiovasc Intervent 2002;57:429–436. © 2002 Wiley‐Liss, Inc.