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Frequent Cause (frequent + cause)
Selected AbstractsDemography of the California Condor: Implications for ReestablishmentCONSERVATION BIOLOGY, Issue 4 2000Vicky J. Meretsky The most prominent mortality factor was lead poisoning resulting from ingestion of bullet fragments in carcasses. Successful captive breeding has allowed many birds to be released to the wild since 1992, based originally on an assumption that exposure to lead could be prevented by food subsidy. The mortality of released birds, however, has generally exceeded levels needed for population stability calculated from simple population models. Collision with overhead wires was the most frequent cause of death in releases before 1994. Lead poisoning again surfaced as a problem starting in 1997 as older birds began feeding on carcasses outside the subsidy program. Although poisonings have been treated successfully by chelation therapy in recaptured birds, food subsidy is proving an ineffective solution to lead exposure. The best long-term solution appears to be either the creation of large reserves where hunting is prohibited or the restriction of hunting to nontoxic ammunition in release areas. Until sources of lead contamination are effectively countered, releases cannot be expected to result in viable populations. In addition, problems involving human-oriented behavior have resulted in the permanent removal of many released birds from the wild. The most promising reduction in human-oriented behavior has been achieved in one release of aversively conditioned, parent-reared birds. Rigorous evaluation of the factors reducing attraction to humans and human structures has been hampered by confounding of techniques in releases. Behavioral problems could be more quickly overcome by adoption of a comprehensive experimental approach. Resumen: Las poblaciones silvestres remanentes del cóndor de California (Gymnogyps californianus) de los anõs 80 exhibieron una disminución poblacional rápida debido a altas tasas de mortalidad de individuos adultos e inmaduros. El factor de mortalidad más prominente fue el envenenamiento por plomo ocasionado por la ingestión de fragmentos de municiones en cadáveres. La reproducción exitosa en cautiverio ha permitido muchas liberaciones en ambientes silvestres desde 1992, bajo el argumento de que la exposición al plomo puede ser prevenida mediante el subsidio de alimento. Sin embargo, la mortalidad de aves liberadas ha excedido generalmente los niveles necesarios para alcanzar una estabilidad poblacional calculada a partir de modelos poblacionales simples. Las colisiones con alambres en lo alto fueron la causa más frecuente de las muertes en liberaciones anteriores a 1994. A partir de 1997, el envenenamiento con plomo surgió una vez más como un problema, puesto que las aves de edad avanzada comenzaron a alimentarse de cadáveres fuera del programa de subsidio. A pesar de que el envenenamiento ha sido tratado exitosamente mediante terapia de quelación de las aves recapturadas, el subsidio de alimento ha probado ser una solución ineficaz contra la exposición al plomo. Las mejores soluciones de largo plazo aparentan ser la creación de reservas grandes donde la caza sea prohibida o se restrinja la caza a municiones no tóxicas en las áreas de liberación. Solo una vez que la contaminación por plomo sea contrarrestada efectivamente, no se podrá esperar que las liberaciones resulten en poblaciones viables. Además, los problemas de conductas orientadas hacia humanos ha resultado en la remoción permanente de muchas aves liberadas de zonas silvestres. La reducción más prometedora de conductas orientadas hacia humanos ha sido obtenida en una liberación de aves criadas por sus padres y condicionadas adversamente. La evaluación rigurosa de los factores que reducen la atracción hacia humanos y estructuras de humanos ha sido obstaculizada por la confusión de técnicas en las liberaciones. Los problemas de conducta podrían ser superados más rápidamente mediante la adopción de una estrategia experimental comprensiva. [source] Autoxidation of linalyl acetate, the main component of lavender oil, creates potent contact allergensCONTACT DERMATITIS, Issue 1 2008Maria Sköld Background:, Fragrances are among the most common causes of allergic contact dermatitis. We have in previous studies shown that linalool, present in lavender oil, autoxidizes on air exposure, forming allergenic oxidation products. Oxidized linalool was found to be a frequent cause of contact allergy in a patch test study on consecutive dermatitis patients. Linalyl acetate, the main component of lavender oil is commonly used as a fragrance chemical in scented products. Because of structural similarities, linalyl acetate should also be susceptible to oxidation on air exposure, forming similar oxidation products as linalool. Objective:, The aim of the present study was to investigate the autoxidation of linalyl acetate and the influence of oxidation on its sensitizing potency. Methods:, Analyses were performed using gas chromatography, nuclear magnetic resonance spectrometry and mass spectrometry. Sensitizing potencies of compounds were determined using the local lymph node assay (LLNA) in mice. Results:, Analyses showed that the content of linalyl acetate decreased over time on air exposure and other compounds were formed. Hydroperoxides, an epoxide and an alcohol were identified as oxidation products from linalyl acetate. In the LLNA, linalyl acetate of high purity showed a weak sensitizing potency (EC3 25%). Autoxidation increased the sensitizing potency of linalyl acetate, and a 10 weeks oxidized sample gave an EC3 value of 3.6%. As for linalool, the hydroperoxides were shown to be the oxidation products with the highest sensitizing potency. Conclusion:, It is concluded that autoxidation of the weakly allergenic linalyl acetate leads to formation of allergenic oxidation products. [source] Prevalence and handedness correlates of traumatic injuries to the permanent incisors in 13,17-year-old adolescents in Erzurum, TurkeyDENTAL TRAUMATOLOGY, Issue 5 2003Varol Canakci Abstract ,,,The objectives of the present study were to explore the relationship between dental trauma and handedness, and to assess the prevalence of traumatic injuries to the permanent incisors of 13,17-year-old patients, seeking treatment for various dental conditions in Erzurum, Turkey. A questionnaire focusing on handedness was administered to these patients. Handedness was assessed by the Edinburgh Handedness Inventory (Oldfield, 1971). Hand preference was divided into two classes for convenience in data analysis: (i) right-handers (GSc from 80 to 100); and (ii) left-handers (GSc from ,80 to ,100). This study included the 13,17-year-old group patients who had GSc as described above. Thus, the present study was carried out on 2180 (1252 male and 928 female, with a mean age of 14.9 years) out of 2392 patients. The clinical examinations and radiographic assessments were performed in full-designed dental chairs. Preliminary analysis showed no differences in rates of handedness with respect to sex and age. Overall, 10.4% of the patients were left-handers. A total of 292 (13.4%) of 2180 patients examined had one or more traumatized permanent incisors. The proportion of dental trauma was significantly higher in males than in females, 17.41% in males as compared to 7.97% in females; and ratio of the affected males to females was about 2.18. Sex difference in the prevalence of traumatized permanent incisors was statistically significant (P < 0.001). That is, males had a significantly higher risk of dental trauma than females (P < 0.001; odds ratio: 2.49; 95% confidence interval (CI) 1.88, 3.23). There was a higher level of traumatized permanent incisors among left-handers than among right-handers. 28.3% of left-handers and 11.7% of right-handers had dental trauma. This difference in the prevalence of traumatized permanent incisors for handedness was statistically significant (P < 0.001). Indeed, left-handers had a significantly higher risk on dental trauma than right-handers (P < 0.001; odds ratio: 3.09; 95% CI 2.23, 4.29). The primary causative factor in the occurrence of trauma was the fall (27.7%). Then came violence and fight as the second most frequent cause of trauma (24%), followed by sports injury (18.8%). Trauma resulting from collisions and traffic accidents were accounted as 13.7 and 11.3% of all cases, respectively. The other causes were 4.5%. In conclusion, the present study suggests that left-handed adolescents have more frequent permanent incisor tooth trauma than right-handed adolescents. Left-handedness, therefore, appears to be a risk factor for trauma in 13,17-year-old adolescents. [source] Estrogen and progesterone hormone receptor status in breast carcinoma: Comparison of immunocytochemistry and immunohistochemistryDIAGNOSTIC CYTOPATHOLOGY, Issue 3 2002Svetlana Tafjord M.D. Abstract We evaluated the correlation between histologic and cytologic specimens in the determination of estrogen receptor (ER) and progesterone receptor (PR) status in breast carcinoma and investigated the causes of clinically significant discrepancies. We analyzed 70 immunoassays for ER and 60 for PR from 71 patients with breast carcinoma. Concordance between cytology and histology was 89% for ER and 63% for PR using scores from pathology reports. Concordance between cytology and histology was 98% for ER and 91% for PR using consensus scores (obtained after reevaluation by the team of pathologists). Thirty of 130 (23%) tests had clinically relevant discrepancies, 53% of which were caused by wrong interpretation of cytologic findings, 10% by wrong interpretation of histologic findings, 17% by sampling error and 20% were not available for reevaluation. Wrong interpretation of the results for ER and PR status in cytology was a far more frequent cause of clinically relevant discrepancies than sampling errors. The use of strict criteria is recommended. Diagn. Cytopathol. 2002;26:137,141; DOI 10.1002/dc.10079 © 2002 Wiley-Liss, Inc. [source] ECHO ROUNDS: Percutaneous Balloon Valvuloplasty for Pulmonic Stenosis: The Role of Multimodality ImagingECHOCARDIOGRAPHY, Issue 2 2008Davinder S. Jassal M.D., F.R.C.P.C. Pulmonic valvular stenosis represents the most frequent cause of right ventricular outflow obstruction. Transthoracic echocardiography is the imaging modality of choice in the diagnosis, evaluation and longitudinal follow-up of individuals with pulmonic stenosis (PS). Although valvular PS is usually diagnosed by two-dimensional imaging, Doppler echocardiography allows for the quantification of severity of the valvular lesion. In patients with limited acoustic windows, computed tomography and cardiac magnetic resonance imaging may provide complementary anatomical characterization of the pulmonic annulus and valve prior to percutaneous balloon valvuloplasty. [source] Intraoperative Ultrasound to Define Focal Cortical Dysplasia in Epilepsy SurgeryEPILEPSIA, Issue 1 2008Dorothea Miller Summary Focal cortical dyplasia (FCD) is a frequent cause of medication-resistant focal epilepsy. Patients with FCD may benefit from epilepsy surgery. However, it is difficult to intraoperatively define lesion boundaries. In this case report we present a novel tool to identify FCD intraoperatively. A patient with frontal lobe epilepsy underwent resection of a left frontomesial FCD. Image guidance was achieved by intraoperative ultrasound, which depicted the lesion with a higher resolution than preoperative MRI. Postoperatively the patient remained seizure free. Intraoperative ultrasound may be helpful in identifying and targeting subtle epileptogenic lesions, which are difficult to visualize. [source] Electroencephalographic Characterization of an Adult Rat Model of Radiation-Induced Cortical DysplasiaEPILEPSIA, Issue 10 2001Shinji Kondo Summary: ,Purpose: Cortical dysplasia (CD) is a frequent cause of medically intractable focal epilepsy. The mechanisms of CD-induced epileptogenicity remain unknown. The difficulty in obtaining and testing human tissue warrants the identification and characterization of animal model(s) of CD that share most of the clinical, electroencephalographic (EEG), and histopathologic characteristics of human CD. In this study, we report on the in vivo EEG characterization of the radiation-induced model of CD. Methods: Timed-pregnant Sprague,Dawley rats were irradiated on E17 using a single dose of 145 cGy or left untreated. Their litters were identified and implanted with bifrontal epidural and hippocampal depth electrodes for prolonged continuous EEG recordings. After prolonged EEG monitoring, animals were killed and their brains sectioned and stained for histologic studies. Results: In utero,irradiated rats showed frequent spontaneous interictal epileptiform spikes and spontaneous seizures arising independently from the hippocampal or the frontal neocortical structures. No epileptiform or seizure activities were recorded from age-matched control rats. Histologic studies showed the presence of multiple cortical areas of neuronal clustering and disorganization. Moreover, pyramidal cell dispersion was seen in the CA1>CA3 areas of the hippocampal formations. Conclusions: Our results further characterize the in vivo EEG characteristics of the in utero radiation model of CD using long-term EEG monitoring. This model may be used to study the molecular and cellular changes in epileptogenic CD and to test the efficacy of newer antiepileptic medications. [source] Cerebral bloodflow and oxygen metabolism in borderzone and territorial infarcts due to symptomatic carotid artery occlusionEUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2004J. De Reuck It remains controversial whether borderzone infarcts are due to compromised cerebral perfusion and whether territorial infarcts are caused by artery-to-artery emboli in case of occlusion of the internal carotid artery. The present positron emission tomography study compares with normal controls, the average regional cerebral bloodflow (rCBF), regional oxygen extraction fraction (rOEF) and regional cerebral metabolic rate for oxygen (rCMRO2) in the infarct area, the peri-infarct zone, the remaining homolateral hemisphere and in the contralateral hemisphere of 10 patients with borderzone and 17 patients with territorial infarcts, due to internal carotid artery occlusion by atherosclerosis and by cervical dissection. The steady-state technique with oxygen-15 was used. A nearly significant increase of rOEF with lowered rCBF and rCMRO2 was observed in the peri-infarct zone of patients with territorial infarcts. In patients with borderzone infarcts rCMRO2 was decreased in the peri-infarct zone, in the remaining homolateral hemisphere and in the contralateral hemisphere without changes in rCBF and rOEF. The present study finds no arguments that impaired cerebral perfusion is a more frequent cause of borderzone than of territorial infarcts. [source] New pharmacological strategies against metastatic spreadFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 5 2008G.Y. Perret Abstract Although metastatic spread is the most frequent cause of death in cancer patients, there are very few drugs specifically targeting this process. Bases for a new antimetastatic drug discovery strategy are weak because a great number of unknowns characterize the complete understanding of the metastatic cascade mechanisms. Moreover, the current experimental models are too simplistic and do not account for the complexity of the phenomenon. Some targets have been identified but too few are validated. Among them, the metastasis suppressor genes seem to be the most promising. In spite of this, during recent years, a dozen of molecules, which fulfil the definition of a specific metastatic drug that inhibits the metastases without altering the growth of the primary tumour (which can be eradicated by surgery), have been identified and assessed for the proof of the concept. The continuation of this effort would benefit in terms of efficiency, if the objectives were defined more precisely. It is particularly important to distinguish molecules that prevent spread of the metastatic cells of the early-stage primary tumour from the ones which induce a regression of the established metastases or to inhibit the transition from disseminated occult tumour cells to dormant micrometastasis. This second goal is a priori more relevant in the current clinical setting where the detection of early metastatic spread is very difficult, and therefore would call for greater effort on the part of the scientific community. [source] Assessment of drug-induced liver injury in clinical practiceFUNDAMENTAL & CLINICAL PHARMACOLOGY, Issue 2 2008Ma Isabel Lucena Abstract Currently, pharmaceutical preparations are serious contributors to liver disease, with hepatotoxicity ranking as the most frequent cause for acute liver failure and post-marketing regulatory decisions. The diagnostic approach of drug-induced liver injury (DILI) is still rudimentary and inaccurate because of the lack of reliable markers for use in general clinical practice. To incriminate any given drug in an episode of liver dysfunction is a step-by-step process that requires a high degree of suspicion, compatible chronology, awareness of the drug's hepatotoxic potential, the exclusion of alternative causes of liver damage, and the ability to detect the presence of subtle data that favour a toxic aetiology. Clinical and laboratory data may also be assessed with algorithms or clinical scales, which may add consistency to the clinical judgment by translating the suspicion into a quantitative score. The CIOMS/RUCAM instrument is considered at present the best method for assessing causality in DILI, although it could be improved through the use of large database of bona fide DILI cases for validation criteria. [source] Characterization of a 3;6 translocation associated with renal cell carcinomaGENES, CHROMOSOMES AND CANCER, Issue 4 2007Rebecca E. Foster The most frequent cause of familial clear cell renal cell carcinoma (RCC) is von Hippel,Lindau disease and the VHL tumor suppressor gene (TSG) is inactivated in most sporadic clear cell RCC. Although there is relatively little information on the mechanisms of tumorigenesis of clear cell RCC without VHL inactivation, a subset of familial cases harbors a balanced constitutional chromosome 3 translocation. To date nine different chromosome 3 translocations have been associated with familial or multicentric clear cell RCC; and in three cases chromosome 6 was also involved. To identify candidate genes for renal tumorigenesis we characterized a constitutional translocation, t(3;6)(q22;q16.1) associated with multicentric RCC without evidence of VHL target gene dysregulation. Analysis of breakpoint sequences revealed a 1.3-kb deletion on chromosome 6 within the intron of a 2 exon predicted gene (NT_007299.434). However, RT-PCR analysis failed to detect the expression of this gene in lymphoblast, fibroblast, or kidney tumor cell lines. No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e.g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints. © 2007 Wiley-Liss, Inc. [source] Angiotensin II type 1 receptor blocker inhibits fibrosis in rat nonalcoholic steatohepatitis,HEPATOLOGY, Issue 6 2007Akira Hirose Nonalcoholic steatohepatitis (NASH) is now the most frequent cause of chronic liver impairment in developed countries and is a suggested causative factor in the development of cryptogenic cirrhosis and hepatocellular carcinoma. At present there is no effective and accepted therapy for NASH. The renin-angiotensin system is involved in hepatic fibrosis through activation of hepatic stellate cells, major fibrogenic cells in the liver. Hepatic stellate cells are activated by liver injury to express excessive matrix proteins and profibrogenic cytokines such as transforming growth factor,beta 1. Medicines that inhibit this pathway may be of therapeutic potential in NASH. Using a methionine-choline,deficient rat model of NASH, we studied the potential utility of an angiotensin II type 1 receptor blocker (ARB), olmesartan, on biochemical, histologic, and antioxidant measures of disease activity. ARB significantly attenuated increases in aspartate aminotransferase, activation of hepatic stellate cells, oxidative stress, expression of transforming growth factor,beta 1, expression of collagen genes, and liver fibrosis. Conclusion: Our observations strongly suggest a potential preventive role for ARB in the progression of nonalcoholic steatohepatitis. (HEPATOLOGY 2007.) [source] High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families,HUMAN MUTATION, Issue 8 2009George Chong Abstract Lynch syndrome is one of the most common autosomal dominantly inherited cancer syndromes. Mutations in MLH1, MSH2, MSH6, and PMS2 account for greater than 98% of reported mutations in Lynch syndrome families. It has been reported that large genomic deletions in MLH1 and MSH2 are a frequent cause of Lynch syndrome in certain populations. Using a multimodal approach, we have identified mutations in MLH1, MSH2, and MSH6 in French Canadian families fulfilling the Amsterdam criteria for Lynch syndrome and who displayed abnormal staining for at least one of the Lynch syndrome proteins. Mutations were identified in 28 of our 29 French Canadian probands (97%). A total of 18 distinct mutations (nine in MLH1, seven in MSH2, two in MSH6) were identified, of which six (33%) were genomic exon deletions. Another four (22%) resulted in exon deletions in cDNA alone. Three (17%) are novel mutations. Five of these 18 mutations were detected in more than one distinct family (four in MLH1, one in MSH2) and haplotype analysis suggests the possibility of founder effects. Fifteen of the 29 (52%) families carried one of these five putative founder mutations. These findings may simplify genetic testing for Lynch syndrome in French Canadians. © 2009 Wiley-Liss, Inc. [source] Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP),HUMAN MUTATION, Issue 10 2007Stefan Aretz Abstract Somatic mutational mosaicism presents a challenge for both molecular and clinical diagnostics and may contribute to deviations from predicted genotype,phenotype correlations. During APC mutation screening in 1,248 unrelated patients with familial adenomatous polyposis (FAP), we identified 75 cases with an assumed or confirmed de novo mutation. Prescreening methods (protein truncation test [PTT], DHPLC) indicated the presence of somatic mosaicism in eight cases (11%). Sequencing of the corresponding fragments revealed very weak mutation signals, pointing to the presence of either nonsense or frameshift mutations at low level. All mutations were confirmed and quantified by SNaPshot analysis: in leukocyte DNA from the eight patients, the percentage of mosaicism varied between 5.5% and 77%, while the proportion of the mutation in DNA extracted from adenomas of the respective patient was consistently higher. The eight mutations identified as mosaic are localized within codons 216,1464 of the APC gene. According to the known genotype,phenotype correlation, patients with mutations in this region exhibit typical or severe FAP. However, six of the eight patients presented with an attenuated or atypical polyposis phenotype. Our data demonstrate that in a fraction of FAP patients the causative APC mutation may not be detected due to weak signals or somatic mosaicism that is restricted to tissues other than blood. SNaPshot analysis was proven to be an easy, rapid, and reliable method of confirming low-level mutations and evaluating the degree of mosaicism. Some of the deviations from the expected phenotype in FAP can be explained by the presence of somatic mosaicism. Hum Mutat 28(10), 985,992, 2007. © 2007 Wiley-Liss, Inc. [source] Management of atrial fibrillation in the emergency departmentINTERNAL MEDICINE JOURNAL, Issue 4 2003I. Crozier Abstract Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia and is a frequent cause for presentation to the emergency department. With an understanding of the pathophysiology and types of AF, efficient and effective management strategies for AF can be formulated. Patients with paroxysmal AF will often revert spontaneously and can initially be managed on an outpatient basis, unless an antiarrhythmic is commenced. In patients with AF and severe underlying heart disease, the management is primarily directed at the underlying heart disease, supplemented with rate-controlling measures, and prevention of thromboembolic complications. In patients with persistent AF good rate control, early cardioversion and initiation of an antiarrhythmic are likely to reduce the risk of recurrence. (Intern Med J 2003; 33: 182,185) [source] The Glasgow Blatchford scoring system enables accurate risk stratification of patients with upper gastrointestinal haemorrhageINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 7 2010R. Srirajaskanthan Summary Background:, Upper gastrointestinal (UGI) haemorrhage is a frequent cause of hospital admission. Scoring systems have been devised to identify those at risk of adverse outcomes. We evaluated the Glasgow Blatchford score's (GBS) ability to identify the need for clinical and endoscopic intervention in patients with UGI haemorrhage. Methods:, A retrospective observational study was performed in all patients who attended the A&E department with UGI haemorrhage during a 12-month period. Patients were separated into low and high risk categories. High risk encompassed patients who required blood transfusions, operative or endoscopic interventions, management on high dependency or intensive care units, and those who re-bled, represented with further bleeding, or who died. Results:, A total of 174 patients were seen with UGI bleeding. Eight of them self-discharged and were excluded. Of the remaining 166, 94 had a ,low risk' bleed, and 72 ,high risk'. The GBS was significantly higher in the high risk (median = 10) than in the low risk group (median 1, p < 0.001). To assess the validity of the GBS at separating low and high risk groups, receiver-operator characteristic (ROC) curves were plotted. The GBS had an area under ROC curve of 0.96 (95% CI 0.95,1.00). When a cut-off value of , 3 was used, sensitivity and specificity of GBS for identifying high risk bleeds was 100% and 68%. Thus at a cut-off value of , 2 the GBS is useful for distinguishing those patients with a low risk UGI bleed. Conclusions:, The GBS accurately identifies low risk patients who could be managed safely as outpatients. [source] Photoallergic contact dermatitis caused by ultraviolet filters in different sunscreensINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2008Esther J. H. Collaris MD Over the last decade, a change in the public awareness regarding the possible danger of excessive sunlight exposure has resulted in an increased consumption of sunscreens. These products contain a broad spectrum of putative sensitizers that can cause contact dermatitis and, upon exposure to ultraviolet (UV) irradiation, photocontact dermatitis. Among these sensitizing compounds, UV filters are the most frequent cause of photoallergic reactions. Although rarely observed, we here describe the occurrence of a photoallergic contact dermatitis in a 55-year-old man after the use of two different sunscreens. Photopatch testing showed hypersensitivity reactions of the delayed type against three different chemical UV filters, 4-tert-butyl-4- methoxy-dibenzoylmethane (Parsol 1789), 2-ethylhexyl-p-methoxycinnamate (Parsol MCX), and isoamyl-p-methoxycinnamate (Neoheliopan). [source] A dystocic childbirth in the Spanish Bronze AgeINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 2 2004A. Malgosa Abstract Prehistoric cases of maternal and fetal death during labour are difficult to document. However, this must have been a frequent cause of death among young women who lived in hard circumstances and precarious health conditions. In this paper, a case of a Bronze Age woman who probably died during childbirth due to unavoidable reasons is presented: her baby was lying transversely with the right fetal arm protracted. Death of both mother and child was inevitable. Copyright © 2004 John Wiley & Sons, Ltd. [source] CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissectionsINTERNATIONAL JOURNAL OF STROKE, Issue 3 2009S. Debette Background Cervical artery dissection (CAD) is a frequent cause of ischemic stroke, and occasionally death, in young adults. Several lines of evidence suggest a genetic predisposition to CAD. However, previous genetic studies have been inconclusive mainly due to insufficient numbers of patients. Our hypothesis is that CAD is a multifactorial disease caused by yet largely unidentified genetic variants and environmental factors, which may interact. Our aim is to identify genetic variants associated with an increased risk of CAD and possibly gene,environment interactions. Methods We organized a multinational European network, Cervical Artery Dissection and Ischemic Stroke Patients (CADISP), which aims at increasing our knowledge of the pathophysiological mechanisms of this disease in a large group of patients. Within this network, we are aiming to perform a de novo genetic association analysis using both a genome-wide and a candidate gene approach. For this purpose, DNA from approximately 1100 patients with CAD, and 2000 healthy controls is being collected. In addition, detailed clinical, laboratory, diagnostic, therapeutic, and outcome data are being collected from all participants applying predefined criteria and definitions in a standardized way. We are expecting to reach the above numbers of subjects by early 2009. Conclusions We present the strategy of a collaborative project searching for the genetic risk factors of CAD. The CADISP network will provide detailed and novel data on environmental risk factors and genetic susceptibility to CAD. [source] Cause of Death in Older Patients with Anatomo-Pathological Evidence of Chronic Bronchitis or Emphysema: A Case-Control Study Based on Autopsy FindingsJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 5 2001Jean Paul Janssens MD OBJECTIVES: To determine the most frequent causes of death of hospitalized older patients based on anatomo-pathological evidence and to compare the relative frequency of fatal events between patients with and without evidence of either chronic bronchitis (CB) or emphysema (E). DESIGN: Retrospective, case-control study based on a computerized database including anatomo-pathological data of patients deceased and autopsied over a 25-year period. SETTING: Two geriatric hospitals in Geneva. PARTICIPANTS: Not applicable. MEASUREMENTS: Autopsy records for cause(s) of death in patients with CB or E. RESULTS: 3,685 patients deceased in our institution (1,540 men; 2,145 women) were autopsied between 1972 and 1996; mean age at death was 81.5 ± 8.0 years. Anatomo-pathological evidence of CB or E was found in 983 patients (26.6% of total); 262 (7.2%) had predominantly CB, and 456 (12.3%) predominantly E. Pneumonia was the most frequent cause of death in all patients (21.8%). Myocardial infarction (MI) (17.6% vs 14%), and respiratory failure (5.1% vs 1.5%) occurred more frequently in subjects with CB and/or E than in controls. Fatal pulmonary embolism (PE) was more frequent in patients with E (18.4%) than in patients with CB (10.7%; odds ratio (OR) = 1.89, P = .008), or in controls (12.7%; OR = 1.56, P = .0008). CONCLUSION: Anatomo-pathological evidence of CB or E is highly prevalent in older patients, suggesting that CB and E are clinically underdiagnosed in this age group. Fatal MI occurred significantly more frequently in older patients with E or CB than in controls. Furthermore, patients with E were at significantly higher risk of fatal PE than patients with CB or controls. [source] Single-session, graded esophageal dilation without fluoroscopy in outpatients with lower esophageal (Schatzki's) rings: A prospective, long-term follow-up studyJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 5 2007Spiros N Sgouros Abstract Background:, Distal esophageal (Schatzki's) ring is a frequent cause of dysphagia. Bougienage is generally effective but relapses are common. The aim of this study was to evaluate the safety and long-term efficacy of single-session graded esophageal dilation with Savary dilators, without fluoroscopic guidance, in outpatients who presented with Schatzki's ring. Methods:, The study was performed on 44 consecutive patients with symptomatic Schatzki's ring, detected endoscopically and/or radiologically. Graded esophageal dilation was performed as an outpatient procedure in a single session with Savary dilators, without fluoroscopic guidance. After appropriate assessment with esophageal manometry and 24 h ambulatory pHmetry, patients with documented gastroesophageal reflux disease (GERD) were treated with omeprazole continuously. All results, including clinical follow up and technical aspects of bougienage, were recorded prospectively. The necessity for re-dilation after documentation of the ring with endoscopy and/or radiology was considered as a relapse of the ring. Results:, In four (9%) patients a second session was necessary to ensure complete symptom relief. Two (4.5%) patients developed post-dilation bacteremia and were managed with antibiotics as outpatients. Patients with (n = 14) or without (n = 30) GERD were comparable with respect to sex, age, body mass index, smoke and ethanol consumption, diameter of the esophageal lumen at the level of the ring, resting lower esophageal sphincter pressure, duration of dysphagia, need for taking antacids during the follow-up period, and duration of follow-up. There was no recurrence of the ring in patients with GERD during a mean follow-up period of 43.8 ± 9.3 months (range 27,62 months); however, in patients without GERD, during a mean follow-up period of 40.6 ± 12.2 months (range 10,58 months), 32% of patients relapsed after a mean 19.9 ± 10.6 months (P = 0.04). Conclusions:, Single-session graded esophageal dilation with large caliber Savary dilators without fluoroscopic guidance can be safely used for the symptomatic relief in patients with lower esophageal (Schatzki's) rings. GERD should be treated if present in order to prevent a symptomatic recurrence of the ring. [source] Pathological study of idiopathic portal hypertension with an emphasis on cause of death based on records of Annuals of Pathological Autopsy Cases in JapanJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 2 2007Seiko Sawada Abstract Background and Aim:, Idiopathic portal hypertension (IPH) is thought to be benign if bleeding gastroesophageal varices can be controlled or prevented. A recent autopsy of a woman with IPH who died of hemorrhagic intestinal infarction related to mesenteric thrombosis prompted the authors to examine the terminal antemortem features and causes of death of IPH. Methods:, Autopsy cases registered as IPH from 1986 to 1997 were surveyed in the records of the Annuals of Pathological Autopsy Cases in Japan, with permission from the Japanese Society of Pathology. The records of 65 of these cases were collected and examined pathologically. Results:, It was found that the most frequent cause of death in these cases was (i) bacterial infection (20 cases). The next three causes of death were directly or indirectly related to hepatic disease or its altered portal hemodynamics as follows: (ii) progressive hepatic failure (16 cases); (iii) massive hemorrhage from ruptured gastroesophageal varices (11 cases); and (iv) hemorrhagic intestinal infarction due to mesenteric venous thrombosis (5 cases). Although portal venous thrombosis was closely associated with (iv), (ii) and (iii) seemed not to be associated with portal venous thrombosis. In addition, intracranial hemorrhage and other heterogeneous factors were identified as the cause of death in five cases and eight cases, respectively. Conclusion:, These results suggest that progressive hepatic failure and intestinal hemorrhagic infarction should be considered in addition to rupture of gastroesophageal varices when monitoring patients with IPH. Clinicians should be also aware of severe bacterial infection and intracranial hemorrhage as a fatal complication of IPH. [source] Bone mass in young adults with Down syndromeJOURNAL OF INTELLECTUAL DISABILITY RESEARCH, Issue 3 2008M. Guijarro Abstract Background Down syndrome (DS) is a frequent cause of intellectual disability. With the increasing life expectancy of these patients, concerns have been raised about the risk of osteoporosis. In fact, several investigators have reported a reduced bone mass in DS. However, the results may be confounded by comorbid diseases, and differences in lifestyle habits and body size. Therefore, we planned to determine anthropometric and lifestyle factors influencing bone mineral density (BMD) in young adults with DS. Methods Thirty-nine patients with DS (mean age 26 years) and 78 controls were studied. Areal BMD was measured by dual x-ray decsitometry (DXA); volumetric BMD at the lumbar spine and femoral neck was estimated with published formulae. Results DS patients had lower areal BMD than controls at all regions (spine, hip and total body). Height and projected bone area were also lower. There were no differences between both groups regarding estimated volumetric BMD at the femoral neck. However, spine volumetric BMD was also lower in DS than controls. In multivariate analysis, DS, male sex, little physical activity and low sunlight exposure were associated with lower spine volumetric BMD; on the other hand, fat mass and sunlight exposure were associated with femoral neck volumetric BMD. Conclusion This study shows that patients with DS had a reduced areal BMD, but it is in part a consequence of the reduced body size, particularly at the femoral neck. Physical activity and sunlight exposure are associated to volumetric BMD and should be stimulated in order to maintain an adequate bone mass in these patients. [source] Fever of unknown origin in the elderlyJOURNAL OF INTERNAL MEDICINE, Issue 4 2002S. Tal Fever of unknown origin (FUO) means fever that does not resolve itself in the period expected for self-limited infection and whose cause cannot be ascertained despite considerable diagnostic efforts. The differential diagnosis is often different in older patients, and presentation of disease is frequently nonspecific and symptoms are difficult to interpret. Multisystem disease has emerged as the most frequent cause of FUO in the elderly, and temporal arteritis is the most frequent specific diagnosis. Infections, particular tuberculosis, remain an important group. FUO is often associated with treatable conditions in this age group. Early recognition and prompt initiation of appropriate empirical therapy are cornerstones of the strategy. [source] Local isoform-specific NOS inhibition: A promising approach to promote motor function recovery after nerve injuryJOURNAL OF NEUROSCIENCE RESEARCH, Issue 9 2010Bernardo Moreno-López Abstract Physical injury to a nerve is the most frequent cause of acquired peripheral neuropathy, which is responsible for loss of motor, sensory and/or autonomic functions. Injured axons in the peripheral nervous system maintain the capacity to regenerate in adult mammals. However, after nerve transection, stumps of damaged nerves must be surgically joined to guide regenerating axons into the distal nerve stump. Even so, severe functional limitations persist after restorative surgery. Therefore, the identification of molecules that regulate degenerative and regenerative processes is indispensable in developing therapeutic tools to accelerate and improve functional recovery. Here, I consider the role of nitric oxide (NO) synthesized by the three major isoforms of NO synthases (NOS) in motor neuropathy. Neuronal NOS (nNOS) seems to be the primary source of NO that is detrimental to the survival of injured motoneurons. Endothelial NOS (eNOS) appears to be the major source of NO that interferes with axonal regrowth, at least soon after injury. Finally, NO derived from inducible NOS (iNOS) or nNOS is critical to the process of lipid breakdown for Wallerian degeneration and thereby benefits axonal regrowth. Specific inhibitors of these isoforms can be used to protect injured neurons from degeneration and promote axonal regeneration. A cautious proposal for the treatment of acquired motor neuropathy using therapeutic tools that locally interfere with eNOS/nNOS activities seems to merit consideration. © 2010 Wiley-Liss, Inc. [source] Aggravating factors for melasma: a prospective study in 197 Tunisian patientsJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 9 2010C Guinot Abstract Background, Melasma is a frequent cause of consultations at dermatology departments by dark-skinned patients in Tunisia. Objective, To investigate factors that influence melasma severity in a large Tunisian population. Methods, A total of 197 patients (188 women and 9 men), who attended Tunis Military Hospital for a consultation were included prospectively from August 2005 to August 2006. Disease severity was estimated using the Melasma Area and Severity Index (MASI). Aggravating factors were investigated using multiple logistic regressions. Results, Of the women included, 14% presented phototype III, 45% phototype IV and 41% phototype V; 76% presented a centrofacial melasma phenotype, 23% a malar and 1% a mandibular phenotype. About 60% developed melasma before thirty. Sun exposure was reported as a triggering factor by 51% of women and as an aggravating factor by 84%. Pregnancy was reported as an aggravating factor by 51% of women who had been pregnant, and oral contraceptive use reported by 38% of women exposed to oral contraceptives. The risk of severe melasma was about three times higher for women with age at onset under 30, phototype V and major lifetime sun exposure and about 8 times higher for women exposed to oral contraceptives. Conclusion, This study identifies a number of factors associated with the severity of melasma. Further epidemiological studies in this type of population, in particular, to investigate triggering factors, are justified by the aesthetic damage caused by melasma in dark-skinned patients, lack of efficacy of existing treatments, non-compliance with photoprotection recommendations and the challenge of treatment. [source] CMTX: heterozygosity for a GJB1/CX32 mutation in a XXY male results in a mild phenotypeJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2004M Milani Mutations in the GJB1/Cx32 gene (Xq13.1) cause the most common X-linked form of CMT (CMTX1) and are the most frequent cause of CMT disease after the CMT1A duplication. The disorder is characterized by a moderate-to-severe neuropathy in affected males and mild-to-no symptoms in carrier females. We report here a CMT1A-negative family in which 4 females and 2 males were affected, exhibiting different disease severity. Molecular analysis of the GJB1/Cx32 gene uncovered a nonsense mutation (Arg22stop) in exon 2. The mutation, which had been previously described by others and observed by us in numerous other families, occurred in heterozygous form in the 4 females. However, while one of the two male patients was severely affected and shown to be hemizygous, as expected, the other was mildly affected and found to carry the mutation in heterozygous form. Genotyping at the SRY (Yp11.3) and DMD (Xp21) loci suggested the occurrence of the XXY genotype associated with Klinefelter syndrome. Microsatellite analysis indicated that the nondysjunctional error was of paternal origin, as it is usually observed in about half the cases. The patient had no children. At clinical examination, he exhibited a very mild neurologic phenotype and showed signs of hypogonadism (mild gynecomastia and small testes) as well as moderate cognitive impairment. Electrophysiologic, cytogenetic and endocrinologic investigations are in progress in order to define the unusual phenotype in this patient. [source] Homozygous type 2N R854W von Willebrand factor is poorly secreted and causes a severe von Willebrand disease phenotypeJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 9 2010G. CASTAMAN Summary.,Background:,von Willebrand disease (VWD) type Normandy (VWD 2N) is caused by mutations at the factor (F)VIII-binding site of von Willebrand factor (VWF), located in the D,and D3 domains on the N-terminus of mature VWF. The R854Q mutation is the most frequent cause of this phenotype. Objectives:,We report the characterization of a homozygous VWD 2N mutation, R854W, detected in a patient with a severe VWD phenotype. Methods:,The plasma VWF phenotype was studied, transient expression of recombinant mutant full-length VWF in 293 EBNA cells was performed, and the results were compared with those obtained with wild-type (WT) VWF. Furthermore, expression was also examined in HEK293 cells, which form Weibel,Palade body-like granules when transfected with WT VWF. Results:,The multimer analysis of plasma VWF showed the lack of the typical triplet structure, with the presence of the central band only, and a relative decrease in the high molecular mass multimers. Homozygous expression of recombinant R854W VWF resulted in normal amounts of cellular VWF, but with a severe reduction in secretion into the medium. Severe reductions in FVIII binding to R854W VWF, glycoprotein Ib binding activity and collagen binding of secreted W854 VWF was observed, and reproduced the phenotypic parameters of plasma VWF. In HEK293 cells, homozygous R854W VWF failed to form Weibel,Palade body-like granules. Conclusions:,Our results demonstrate that a homozygous R854W mutation in the D, domain of VWF induces impaired secretion and activity of the protein, thereby explaining the severe phenotype of the patient. [source] A study on associations between antiprothrombin antibodies, antiplasminogen antibodies and thrombosisJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 4 2003M. J. A. Simmelink Summary., Anti-prothrombin antibodies are a frequent cause of lupus anticoagulant (LAC), a thrombotic risk factor. Prothrombin shares structural homology with plasminogen, a kringle protein with an important role in fibrinolysis. Cross-reactivity between antiprothrombin antibodies and plasminogen has been described. To study associations between LAC, IgG and IgM class antiprothrombin and antiplasminogen antibodies, plasminogen activity levels and thrombosis in selected patients with systemic autoimmune diseases. Patients included forty-six consecutive LAC-positive patients (29 with systemic lupus erythematosus (SLE); 33 with a thrombotic history), 38 patients without LAC (36 with SLE; seven with a history of thrombosis) and 40 healthy controls. In the total group of 84 patient samples, the prevalence of antiprothrombin and antiplasminogen antibodies was 30 and 38%, respectively. There was no significant relationship between the presence of these antibodies. In contrast to presence of antiplasminogen antibodies, presence of antiprothrombin antibodies was statistically significant related to thrombosis. Thirteen samples had antiprothrombin and antiplasminogen antibodies of similar isotype (IgG, n= 4; IgM, n= 9). Of these, all but one had LAC and 11/13 came from patients with a history of thrombosis. Simultaneous presence of IgM-class antiprothrombin and antiplasminogen antibodies had a significant association with thrombosis. Levels of plasminogen activity were similar in samples from healthy controls and patients (with or without antiplasminogen antibodies or thrombosis). Anti-prothrombin antibodies and antiplasminogen antibodies occur frequently in patients with systemic autoimmune disease. Anti-prothrombin antibodies, but not antiplasminogen antibodies are a risk factor for thrombosis. Anti-plasminogen are in most cases unrelated to antiprothrombin antibodies. [source] Iron Deficiency in Stabled Dutch Warmblood FoalsJOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 5 2001H. Brommer Forty-three Dutch Warmblood foals were divided at random into 3 rearing groups immediately after birth: a box-rest group, a box-rest with exercise group, and a pasture group. All stabled foals (box-rest and exercise groups) were fed freshly cut grass harvested from the same pastures on which the pasture group foals were grazing. Blood samples were obtained monthly for CBC and biochemical analyses. At 1,3 months of age, the foals at pasture were active but the foals in the box-rest and exercise groups were listless. Mean hemoglobin concentrations, PCVs, blood iron concentrations, and saturation of total iron binding capacity were significantly lower (P < .05) in the box-rest group (11.3 ± 1.2 g/dL, 33 ± 3%, 123 ± 67 ,g/dL, and 18 ± 9%) and the exercise group (11.6 ± 1.5 g/dL, 34 ± 4%, 101 ± 61 ,g/dL, and 15 ± 10%) compared with the pasture group (14.0 ± 0.8 g/dL, 42 ± 3%, 212 ± 67 ,g/dL, and 32 ± 10%). Oral supplementation of iron to all foals resulted in significant increases in the values of these variables in the box-rest group and exercise group at 4,5 months of age, and the stabled foals were as active as the foals at pasture. In the pasture group, no significant changes occurred. Management practices clearly influence the iron state in young growing foals from 1 to 3 months of age, and although not a frequent cause of anemia in the horse, an absolute deficit of body iron may occur in stabled foals fed freshly cut grass. [source] | |||||||||||||||||||||||||||||||||||||