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Unknown Cause (unknown + cause)
Selected AbstractsAvoidable risk factors in perinatal deaths: A perinatal audit in South AustraliaAUSTRALIAN AND NEW ZEALAND JOURNAL OF OBSTETRICS AND GYNAECOLOGY, Issue 1 2008Titia E. DE LANGE Objectives: To analyse risk factors of perinatal death, with an emphasis on potentially avoidable risk factors, and differences in the frequency of suboptimal care factors between maternity units with different levels of care. Methods: Six hundred and eight pregnancies (2001,2005) in South Australia resulting in perinatal death were described and compared to 86 623 live birth pregnancies. Results: Two hundred and seventy cases (44.4%) were found to have one or more avoidable maternal risk factors, 31 cases (5.1%) had a risk factor relating access to care, while 68 cases (11.2%) were associated with deficiencies in professional care. One hundred and four women (17.1% of cases) presented too late for timely medical care: 85% of these did have a sufficient number of antenatal visits. The following independent maternal risk factors for perinatal death were found: assisted reproductive technology (adjusted odds ratio (AOR) 3.16), preterm labour (AOR 22.05), antepartum haemorrhage (APH) abruption (AOR 6.40), APH other/unknown cause (AOR 2.19), intrauterine growth restriction (AOR 3.94), cervical incompetence (AOR 8.89), threatened miscarriage (AOR 1.89), pre-existing hypertension (AOR 1.72), psychiatric disorder (AOR 1.85) and minimal antenatal care (AOR 2.89). The most commonly found professional care deficiency in cases was the failure to act on or recognise high-risk pregnancies/complications, found in 49 cases (8.1%). Conclusion: Further improvements in perinatal mortality may be achieved by greater emphasis on the importance of antenatal care and educating women to recognise signs and symptoms that require professional assessment. Education of maternity care providers may benefit from a further focus on how to recognise and/or manage high-risk pregnancies. [source] Biopsy of the posterior interosseous nerve: a low morbidity method for assessment of peripheral nerve disordersDIABETIC MEDICINE, Issue 1 2009N. O. B. Thomsen Abstract Aims The sural nerve is the commonest peripheral nerve biopsied to help in the diagnosis of peripheral neuropathy of unknown cause. However, associated complications limit its use. The aim was, as an alternative, to asses biopsy of the terminal branch of the posterior interosseous nerve (PIN) in the forearm. Methods PIN pathology was morphometrically quantified in 10 male patients with Type 2 diabetes and compared with six PIN biopsy specimens taken post mortem from male cadavers with no history of neuropathy or trauma. Results The PIN biopsy procedure provides a long (approximately 3 cm) mono- or bifascicular nerve biopsy with generous epineurial tissue and adjacent vessels. Our results show a significantly lower myelinated fibre density in subjects with diabetes [5782 (3332,9060)/mm2] compared with autopsy control material [9256 (6593,12 935)/mm2, P < 0.007]. No postoperative discomfort or complications were encountered. Conclusions A reduction in myelinated fibre density has previously been shown to be a clinically meaningful measure of neuropathy in diabetic patients. We demonstrate similar findings using the PIN biopsy. The PIN biopsy procedure fulfils the criteria for nerve biopsy and was well tolerated by the patients. It may be a possible alternative to sural nerve biopsy to allow for diagnosis of neuropathy. [source] Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005,2009EPILEPSIA, Issue 4 2010Anne T. Berg Summary The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Generalized and focal are redefined for seizures as occurring in and rapidly engaging bilaterally distributed networks (generalized) and within networks limited to one hemisphere and either discretely localized or more widely distributed (focal). Classification of generalized seizures is simplified. No natural classification for focal seizures exists; focal seizures should be described according to their manifestations (e.g., dyscognitive, focal motor). The concepts of generalized and focal do not apply to electroclinical syndromes. Genetic, structural,metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic. Not all epilepsies are recognized as electroclinical syndromes. Organization of forms of epilepsy is first by specificity: electroclinical syndromes, nonsyndromic epilepsies with structural,metabolic causes, and epilepsies of unknown cause. Further organization within these divisions can be accomplished in a flexible manner depending on purpose. Natural classes (e.g., specific underlying cause, age at onset, associated seizure type), or pragmatic groupings (e.g., epileptic encephalopathies, self-limited electroclinical syndromes) may serve as the basis for organizing knowledge about recognized forms of epilepsy and facilitate identification of new forms. [source] Adult Langerhans cell histiocytosisEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2006Marcus Stockschlaeder Abstract:, Langerhans cell histiocytosis (LCH) is a proliferative histiocytic disorder of unknown cause originating from dendritic cells. The clinical presentation of LCH is highly variable. Although the features of this disease have been well described in children, they remain poorly defined in adults. Here, we review the current knowledge about adult LCH, focussing on clinical presentation, diagnosis, treatment, and prognosis. [source] Prospective Validation of a Modified Thrombolysis In Myocardial Infarction Risk Score in Emergency Department Patients With Chest Pain and Possible Acute Coronary SyndromeACADEMIC EMERGENCY MEDICINE, Issue 4 2010Erik P. Hess MD Abstract Objectives:, This study attempted to prospectively validate a modified Thrombolysis In Myocardial Infarction (TIMI) risk score that classifies patients with either ST-segment deviation or cardiac troponin elevation as high risk. The objectives were to determine the ability of the modified score to risk-stratify emergency department (ED) patients with chest pain and to identify patients safe for early discharge. Methods:, This was a prospective cohort study in an urban academic ED over a 9-month period. Patients over 24 years of age with a primary complaint of chest pain were enrolled. On-duty physicians completed standardized data collection forms prior to diagnostic testing. Cardiac troponin T-values of >99th percentile (,0.01 ng/mL) were considered elevated. The primary outcome was acute myocardial infarction (AMI), revascularization, or death within 30 days. The overall diagnostic accuracy of the risk scores was compared by generating receiver operating characteristic (ROC) curves and comparing the area under the curve. The performance of the risk scores at potential decision thresholds was assessed by calculating the sensitivity and specificity at each potential cut-point. Results:, The study enrolled 1,017 patients with the following characteristics: mean (±SD) age 59.3 (±13.8) years, 60.6% male, 17.9% with a history of diabetes, and 22.4% with a history of myocardial infarction. A total of 117 (11.5%) experienced a cardiac event within 30 days (6.6% AMI, 8.9% revascularization, 0.2% death of cardiac or unknown cause). The modified TIMI risk score outperformed the original with regard to overall diagnostic accuracy (area under the ROC curve = 0.83 vs. 0.79; p = 0.030; absolute difference 0.037; 95% confidence interval [CI] = 0.004 to 0.071). The specificity of the modified score was lower at all cut-points of >0. Sensitivity and specificity at potential decision thresholds were: >0 = sensitivity 96.6%, specificity 23.7%; >1 = sensitivity 91.5%, specificity 54.2%; and >2 = sensitivity 80.3%, specificity 73.4%. The lowest cut-point (TIMI/modified TIMI >0) was the only cut-point to predict cardiac events with sufficient sensitivity to consider early discharge. The sensitivity and specificity of the modified and original TIMI risk scores at this cut-point were identical. Conclusions:, The modified TIMI risk score outperformed the original with regard to overall diagnostic accuracy. However, it had lower specificity at all cut-points of >0, suggesting suboptimal risk stratification in high-risk patients. It also lacked sufficient sensitivity and specificity to safely guide patient disposition. Both scores are insufficiently sensitive and specific to recommend as the sole means of determining disposition in ED chest pain patients. ACADEMIC EMERGENCY MEDICINE,2010; 17:368,375 © 2010 by the Society for Academic Emergency Medicine [source] Endoluminal repair of distal aortic arch aneurysms causing aorto-vocal syndromeINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 10 2008J. P. Morales Summary Purpose:, We have evaluated the efficacy of endovascular repair of distal aortic arch aneurysms (DAAA) causing recurrent laryngeal nerve palsy. Material and methods:, Eight patients (five male and three female) with median age of 72 years (range: 59,80) presented with left recurrent laryngeal nerve palsy associated with DAAA. All patients were considered unfit for open surgery. The median aneurysm size was 5.9 cm (range: 5,7.3). Thirteen stents were deployed: eight Gore, four Endofit and one Talent. Epidural anaesthesia was used in all patients. The left subclavian artery was covered in all and the left common carotid in three who had a preliminary right to left carotid,carotid bypass. Routine follow-up (FU) was with computed tomography (CT) at 3,6 months and yearly thereafter. Results:, Exclusion of the aneurysm sac was achieved in all patients. Thirty-day mortality was 0%, with no paraplegia or stroke. Early complications included: rupture of the external iliac artery (one) and common femoral artery thrombectomy (one). One patient died of unknown cause at 17 months. The mean FU in the remaining seven patients was 21 months (range: 6,51). Aneurysm size decreased in five, was unchanged in one and increased in one. Three patients had improvement in voice quality postoperatively. One patient had a recurrent type 1 endoleak which was restented twice. No late deaths have occurred. Conclusion:, Though technically the procedures involved were more complicated, endovascular repair of DAAA causing aorto-vocal syndrome is safe and offers a realistic alternative to open surgery. Hoarseness of the voice can improve postoperatively and is associated with reduction in aortic sac diameter. [source] Long-Term Follow-Up After Radiofrequency Catheter Ablation of Ventricular Tachycardia: A Successful Approach?JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 5 2002ALIDA E. BORGER VAN DER BURG M.D. RF Catheter Ablation of VT.Introduction: Radiofrequency ablation (RFCA) of ventricular tachycardia (VT) is a potential curative treatment modality. We evaluated the results of RFCA in patients with VT. Methods and Results: One hundred fifty-one consecutive patients (122 men and 29 women; age 57 ± 16 years) with drug-refractory VT were treated. Underlying heart disease was ischemic heart disease in 89 (59%), arrhythmogenic right ventricular cardiomyopathy (ARVC) in 32 (21%), and idiopathic VT in 30 (20%; left ventricle in 9 [30%]; right ventricle in 21 [70%]). Ablation was performed using standard ablation techniques. Three hundred six different VTs were treated (cycle length 334 ± 87 msec, 2.0 ± 1.4 VTs per patient). Procedural success (noninducibility of VT after RFCA) was achieved in 126 (83%) patients (70 ischemic heart disease [79%]; 28 ARVC [88%]; 27 idiopathic VT [93%]). Procedure-related complications (< 48 hours) occurred in 11 (7%) patients: death 3 (2.0%), cerebrovascular accident 2 (1.3%), complete heart block 4 (2.6%), and pericardial effusion 3 (2.0%). Thirty-three (22%) patients received an implantable cardioverter defibrillator (because of hemodynamic unstable VT, failure of the procedure, or aborted sudden death). During follow-up (34 ± 11 months), VT recurrences occurred in 38 (26%) patients (recurrence rate: 19% in successfully ablated patients and 64% in nonsuccessfully ablated patients; P < 0.001). During follow-up, 12 (8%) patients died (heart failure 8, unknown cause 1, noncardiac cause 3). Conclusion: RFCA of VT can be performed with a high degree of success (83%). The long-term outcome of successfully ablated patients is promising, with a 75% relative risk reduction compared with nonsuccessfully ablated patients. During follow-up, only one patient died suddenly, supporting a selective ICD placement approach in patients with hemodynamically stable VT. [source] Lupus erythematosus: clinical and histopathological study of oral manifestations and immunohistochemical profile of epithelial maturationJOURNAL OF CUTANEOUS PATHOLOGY, Issue 10 2006Silvia Vanessa Lourenço Background:, Lupus erythematosus (LE) is an autoimmune disease of unknown cause. Prevalence of oral involvement in patients with LE is uncertain but may vary from 9 to 45% in patients with systemic disease and from 3 to 20% in patients with chronic cutaneous involvement. Methods:, Incidence of oral lesions of LE and their clinical aspects were investigated. Their histopathologic features were analyzed, and the status of epithelial maturation was assessed through the expression patterns of cytokeratins. Results:, Twenty-six patients (from 188 examined) presented oral lesions of LE. Most of them were females (19) with systemic disease (11). Clinical aspects of these lesions varied, and lips and buccal mucosa were most affected. Histologically, lesions revealed lichenoid mucositis with perivascular infiltrate and thickening of basement. Cytokeratins profile showed hyperproliferative epithelium, with expression of CK5/6, and CK14 on all epithelial layers, CK16 on all suprabasal layers and CK10 on prickle cell layers only. Conclusions:, Oral lesions of LE show a variety of aspects, and their microscopic features are of a lichenoid mucositis with deep inflammatory infiltrate. Cytokeratins expression patterns are of hyperproliferative epithelium, and this phenomenon must be analyzed in relation to the inflammatory cytokines for a better understanding of the mechanisms of the disease. [source] Successful UVA1 phototherapy in a patient with scleredema adultorumJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 2 2005B Eberlein-König ABSTRACT Scleredema adultorum is a rare connective tissue disorder of unknown cause. Both bath-PUVA and cream-PUVA therapy were reported to be effective. We describe a patient with scleredema adultorum who showed a striking clinical improvement with a medium-dose UVA1 phototherapy (single dose, 50 J/cm2; 35 treatments). [source] Current diagnosis and management of primary sclerosing cholangitisLIVER TRANSPLANTATION, Issue 6 2008Jens J. W. Tischendorf Primary sclerosing cholangitis (PSC) is an important liver disease with major morbidity and mortality. The diagnosis of PSC is confirmed by magnetic resonance cholangiopancreaticography, and endoscopic retrograde cholangiopancreaticography is performed in patients needing therapeutic endoscopy. As a result of the unknown cause of the disease, current medical therapies are unsatisfactory. Nevertheless, high-dose ursodeoxycholic acid should be recommended for treatment of PSC patients because there is a trend toward increased survival. Dominant bile duct stenoses should be treated endoscopically. However, liver transplantation continues to be the only therapeutic option for patients with advanced disease. Estimation of prognosis and timing of liver transplantation should be determined individually for each PSC patient on the basis of all results. The diagnosis and treatment of cholangiocarcinoma (CC) still remain a challenge in PSC patients. Early diagnosis of CC certainly is a prerequisite for successful treatment with surgical resection or innovative strategies such as neoadjuvant radiochemotherapy with subsequent orthotopic liver transplantation. Therefore, endoscopic techniques such as cholangioscopy and/or intraductal ultrasound may be useful diagnostic tools in patients with stenoses suspicious for malignancy. Liver Transpl 14:735,746, 2008. © 2008. [source] Live donor liver transplantation for fulminant hepatic failure in childrenLIVER TRANSPLANTATION, Issue 11 2003Chi-Leung Liu The mortality rate among children with fulminant hepatic failure (FHF) on the waiting list for cadaveric donor liver transplantation (CDLT) is high. Results of emergency CDLT in this situation often are unsatisfactory, and a long-term survival rate less than 30% has been reported. Live donor liver transplantation (LDLT) for FHF in children has been advocated, but is reported rarely. We present our experience with LDLT in children with FHF. Between September 1993 and December 2002, primary LDLT was performed for 26 children; 8 of these children had FHF. Patient demographics, clinical and laboratory data, surgical details, complications, and graft and patient survival are reviewed. Four boys and four girls received left-lateral segment (n = 7) and full left-lobe (n = 1) grafts. Mean age was 2.9 ± 1.2 years (range, 3 months to 11 years). Causes of FHF were drug induced in 2 patients and idiopathic in 6 patients. One child received a blood group-incompatible graft. Two patients died; 1 patient of cytomegalovirus infection at 8.6 months and 1 patient of recurrent hepatitis of unknown cause at 2.8 months after LDLT. The child who received a mismatched graft had refractory rejection and underwent a second LDLT with a blood group-compatible graft 19 days afterward. He eventually died of lymphoproliferative disease. Another patient developed graft failure related to venous outflow obstruction and survived after retransplantation with a cadaveric graft. With a median follow-up of 13.2 months (range, 2.8 to 60.3 months), actuarial graft and patient survival rates were 50% and 62.5%, respectively. Survival results appear inferior compared with those of 18 children who underwent LDLT for elective conditions during the same study period (graft survival, 89%; P = .051; patient survival, 89%; P = .281). Although survival outcomes are inferior to those in elective situations, LDLT is a timely and lifesaving procedure for children with FHF. [source] Indian-subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms ,MOVEMENT DISORDERS, Issue 10 2010Annu Aggarwal MD Abstract Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6 -associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian-subcontinent NBIA cases are limited. We report 6 patients from the Indian-subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA-associated genes [pantothenate kinase 2 (PANK2), PLA2G6 and ferritin light chain (exon 4)]. We present clinical, imaging and genetic data correlating phenotype,genotype relations. Four patients carried PANK2 mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent-onset cases. One of the four had a late-onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C>T, appears associated with a milder phenotype. Interestingly, he developed the eye-of-the-tiger sign only 10 years after onset. Two of the six presented with adult-onset levodopa (L -dopa)-responsive asymmetric re-emergent rest tremor, developing L -dopa-induced dyskinesias, and good benefit to deep brain stimulation (in one), thus resembling Parkinson's disease (PD). Both had an eye-of-the-tiger sign on MRI but were negative for known NBIA-associated genes, suggesting the existence of further genetic or sporadic forms of NBIA syndromes. In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of PANK2 and novel mutations. The phenotype of NBIA of unknown cause includes a PD-like presentation. © 2010 Movement Disorder Society [source] The neurology and neuropathology of coeliac diseaseNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 6 2000A. J. Wills A number of neurological syndromes have been described in association with coeliac disease. These include disorders of the central nervous system encompassing epilepsy, myoclonus, ataxia, internuclear opthalmoplegia, multifocal leukoencephalopathy and dementia. Most of these associated conditions show a poor response to gluten restriction. Peripheral neuropathies, of axonal and demyelinating types, have also been reported and may respond to elimination of gluten from the diet. The mechanism underlying these processes remains obscure but may be immunological or related to trace vitamin deficiencies. Controversially, it has also been claimed that occult coeliac disease accounts for a substantial proportion of patients with neurological dysfunction of unknown cause. Some authorities recommend that cryptogenic ataxias and neuropathies should be routinely screened for the presence of gluten-sensitivity but this remains contentious and has not been universally accepted. This review will attempt to review the clinical and pathological findings in this condition and speculate on pathogenesis and directions for future research. [source] Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosisPEDIATRIC BLOOD & CANCER, Issue 6 2008Carl E. Allen MD Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a potentially lethal condition characterized by a pathologic inflammation. The diagnostic criteria for HLH include fever, splenomegaly, cytopenias, hypertriglyceridemia, hypofibrinogenemia, abnormal natural killer cell (NK cell) functional assay, elevated soluble IL-2R, level, and elevated ferritin level (>500 µg/L). Institution of timely therapy in these critically ill patients may be delayed by difficulties establishing the diagnosis. NK cell functional assay and soluble IL-2R, level may require send-out to a specialized lab. However, ferritin level is available on a same-day basis at most institutions. In this study, we examined the utility of quantitative ferritin levels in diagnosing HLH. Procedure All patients with ferritin values >500 µg/L obtained at Texas Children's Hospital between January 10, 2003 and January 10, 2005 were identified. Patient charts were reviewed for ferritin levels and hospital course. Results During the study interval, 330 patients had ferritin levels >500 µg/L. Ten of the 330 patients were diagnosed with HLH. A ferritin level over 10,000 µg/L was 90% sensitive and 96% specific for HLH. Another diagnostic category with significantly elevated ferritin level was illness of unknown cause (n,=,10), and only two of these patients were fully evaluated for HLH. Conclusions Ferritin levels above 10,000 µg/L appear to be specific and sensitive for HLH. In patients without a significant medical history and a new onset of febrile illness with highly elevated ferritin levels, the diagnosis of HLH should be evaluated. Pediatr Blood Cancer 2008;50:1227,1235. © 2007 Wiley-Liss, Inc. [source] A Review of Molecular Contrasts Between Arresting and Viable Porcine Attachment SitesAMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2007Jocelyn M. Wessels Significant spontaneous fetal loss of unknown cause occurs in North American commercial swine. About 30% of conceptuses, thought to be genetically normal, are lost during the peri-attachment period. An additional 20% are lost at mid-pregnancy. Littermate endometrial and trophoblast biopsies were studied by quantitative real-time PCR for gene expression, and immunohistochemistry for protein expression at gestation day (gd)15,23 and 50. RNA analyses were also conducted on endometrial lymphocytes and arterial endothelial cells removed from biopsies by laser capture microdissection. Genes were selected for study from human literature and cloned as required. As in humans, angiogenic, cytokine, chemokine and chemokine decoy receptor gene expression occurs at the porcine maternal,fetal interface. In each tissue studied, distinct patterns of expression are found between early and mid-pregnancy, as well as between viable and arresting conceptus attachment sites. These changes involve both endometrial lymphocytes and dendritic cells. Restriction in endometrial angiogenesis, reduction in expression of the chemokine decoy receptor D6, and reduction in dendritic cell numbers contribute to fetal arrest. In peri-attachment loss, interferon-, is more abundantly transcribed than tumor necrosis factor-,, but this ratio is reversed during midgestation failure. Further characterization of spontaneous fetal loss in pigs will identify targets for modification by hog producers and may provide a model for identification of antecedents to fetal loss in humans. [source] Common Susceptibility Variants Examined for Association with Dilated CardiomyopathyANNALS OF HUMAN GENETICS, Issue 2 2010Evadnie Rampersaud Summary Rare mutations in more than 20 genes have been suggested to cause dilated cardiomyopathy (DCM), but explain only a small percentage of cases, mainly in familial forms. We hypothesised that more common variants may also play a role in increasing genetic susceptibility to DCM, similar to that observed in other common complex disorders. To test this hypothesis, we performed case-control analyses on all DNA polymorphic variation identified in a resequencing study of six candidate DCM genes (CSRP3, LDB3, MYH7, SCN5A, TCAP, and TNNT2) conducted in 289 unrelated white probands with DCM of unknown cause and 188 unrelated white controls. In univariate analyses, we identified associated common variants at LDB3 site 10779, LDB3 site 57877, MYH7 sites 16384 and 17404, and TCAP sites 140 and 1735. Multivariate analyses to examine the joint effects of multiple gene variants confirmed univariate results for MYH7 and TCAP and identified a block of nine variants in MYH7 that was strongly associated with DCM. Common variants in genes known to be causative of DCM may play a role in genetic susceptibility to DCM. Our results suggest that examination of common genetic variants may be warranted in future studies of DCM and other Mendelian-like disorders. [source] Free sialic acid storage disease without sialuria,ANNALS OF NEUROLOGY, Issue 6 2009Fanny Mochel MD We performed high-resolution in vitro proton nuclear magnetic resonance spectroscopy on cerebrospinal fluid and urine samples of 44 patients with leukodystrophies of unknown cause. Free sialic acid concentration was increased in cerebrospinal fluid of two siblings with mental retardation and mild hypomyelination. By contrast, urinary excretion of free sialic acid in urine was normal on repeated testing by two independent methods. Both patients were homozygous for the K136E mutation in SLC17A5, the gene responsible for the free sialic acid storage diseases. Our findings demonstrate that mutations in the SLC17A5 gene have to be considered in patients with hypomyelination, even in the absence of sialuria. Ann Neurol 2009;65:753,757 [source] Detection of human herpesvirus-6 in cerebrospinal fluid of patients with encephalitis,ANNALS OF NEUROLOGY, Issue 3 2009Karen Yao MS Objective Virus infections are the most common causes of encephalitis, a syndrome characterized by acute inflammation of the brain. More than 150 different viruses have been implicated in the pathogenesis of encephalitis; however, because of limitations with diagnostic testing, causative factors of more than half of the cases remain unknown. Methods To investigate whether human herpesvirus-6 (HHV-6) is a causative agent of encephalitis, we examined for evidence of virus infection by determining the presence of viral sequence using polymerase chain reaction and assessed HHV-6 antibody reactivity in the cerebrospinal fluid of encephalitis patients with unknown cause. In a cohort study, we compared virus-specific antibody levels in cerebrospinal fluid samples of patients with encephalitis, relapsing-remitting multiple sclerosis, and other neurological diseases. Results Our results demonstrated increased levels of HHV-6 IgG, as well as IgM levels, in a subset of encephalitis patients compared with other neurological diseases. Moreover, cell-free viral DNA that is indicative of active infection was detected in 40% (14/35) of encephalitis patients, whereas no amplifiable viral sequence was found in either relapsing-remitting MS or other neurological diseases patients. In addition, a significant correlation between polymerase chain reaction detection and anti-HHV-6 antibody response was also demonstrated. Interpretation Collectively, these results suggested HHV-6 as a possible pathogen in a subset of encephalitis cases. Ann Neurol 2009;65:257,267 [source] Lacunar stroke is associated with diffuse blood,brain barrier dysfunction,ANNALS OF NEUROLOGY, Issue 2 2009FMedSci, Joanna M. Wardlaw MD Objective Lacunar stroke is common (25% of ischemic strokes) and mostly because of an intrinsic cerebral microvascular disease of unknown cause. Although considered primarily to be an ischemic process, the vessel and tissue damage could also be explained by dysfunctional endothelium or blood,brain barrier (BBB) leak, not just ischemia. We tested for subtle generalized BBB leakiness in patients with lacunar stroke and control patients with cortical ischemic stroke. Methods We recruited patients with lacunar and mild cortical stroke. We assessed BBB leak in gray matter, white matter, and cerebrospinal fluid, at least 1 month after stroke, using magnetic resonance imaging before and after intravenous gadolinium. We measured tissue enhancement for 30 minutes after intravenous gadolinium by two image analysis approaches (regions of interest and tissue segmentation). We compared the enhancement (leak) between lacunar and cortical patients, and associations with key variables, using general linear modeling. Results We recruited 51 lacunar and 46 cortical stroke patients. Signal enhancement after gadolinium was higher in lacunar than cortical stroke patients in white matter (p < 0.001) and cerebrospinal fluid (p < 0.003) by both analysis methods, independent of other variables. Signal enhancement after gadolinium was also associated with increasing age and enlarged perivascular spaces, but these did not explain the lacunar-cortical difference. Interpretation Patients with lacunar stroke have subtle, diffuse BBB dysfunction in white matter. Further studies are required to determine the relative contributions of BBB dysfunction and/or ischemia to the microvascular and brain abnormalities in lacunar stroke. Ann Neurol 2009;65:194,202 [source] HLA,E gene polymorphism associated with susceptibility to kawasaki disease and formation of coronary artery aneurysmsARTHRITIS & RHEUMATISM, Issue 2 2009Y.-J. Lin Objective Kawasaki disease (KD) is a pediatric systemic vasculitis of unknown cause for which a genetic influence is supposed. The purpose of this study was to identify possible genetic variants in the major histocompatibility complex (MHC) region that are associated with KD and the development of coronary artery aneurysms (CAAs) in a Taiwanese population. Methods The 168 genetic variants covering the MHC locus were analyzed in an association study of a Taiwanese cohort of 93 KD patients and 680 unrelated healthy children matched for sex and age with the study patients. Results Eleven single-nucleotide polymorphisms (SNPs) were associated with the occurrence of KD. The SNP located at the 3,-untranslated region of HLA,E (rs2844724) was highly associated (P < 1 × 10,7). In addition, the frequency of the C allele was higher in KD patients without CAAs than in controls (P < 0.001) due to a significantly increased frequency of the CC and CT genotypes. Plasma levels of soluble HLA,E were significantly higher in KD patients than in controls regardless of the presence of CAAs. Furthermore, there was a trend toward higher plasma levels of soluble HLA,E in KD patients with the CT and TT genotypes of the HLA,E gene polymorphism. Conclusion Our results suggest that the HLA,E gene polymorphism may play a role in the pathogenesis of KD. [source] Cheilitis caused by contact urticaria to mint flavoured toothpasteAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2001Gary Holmes SUMMARY A 26-year-old woman presented with a 12-month history of persistent dermatitis of the lips. She had failed to respond to cosmetic avoidance and therapeutic measures. Patch testing was negative, including her toothpaste and toothpaste flavours. She defied diagnosis until an acute flare followed immediately after dental treatment with a mint flavoured tooth cleaning powder. This led us to prick test her to mint leaves and this was positive. Her cheilitis settled after changing from her mint-flavoured toothpaste. A diagnosis of contact urticaria should be considered in cases of cheilitis of unknown cause. [source] Using 20-gauge percutaneous peripheral catheters to reliably collect serial 4-mL blood samples from conscious dogsAUSTRALIAN VETERINARY JOURNAL, Issue 6 2010KF Elliott Objective To determine the reliability of collecting serial 4-mL blood samples over 13 h using a 20-gauge, cephalic catheter in conscious dogs. Design Prospective, observational study. Animals Twelve (6 males, 6 females) healthy, neutered, lean dogs. Procedure Percutaneous placement of a 20-gauge, 1.1 × 30 mm intravenous over-the-needle catheter into the cephalic vein was performed in each dog on three occasions. Catheter patency was maintained by intermittent flushing with 0.9% saline and 1 IU/mL heparinised saline solutions. Blood samples (4 mL) were obtained at 10 time-points over 13 h, with close monitoring of the dogs and the indwelling catheters. Blood volume, resistance on aspirating blood sample (minimal or marked resistance) and the methods used to improve blood flow were recorded. Results A high proportion (93%) of blood sample collections achieved the required 4-mL volume, and the remaining samples were greater than 1.5 mL. Of the 358 collections via the cephalic catheter, 311 (87%) were obtained with ,minimal resistance'. The remaining collections had ,marked resistance' (n=47) and were associated with a loose catheter in 11% (5/47) and of unknown cause in 89% (42/47). After ,marked resistance' had been encountered and the catheter was flushed with saline and heparin solutions, subsequent sampling with ,minimal resistance' was frequently possible from the same catheter. Conclusion Use of a percutaneous, 20-gauge intravenous cephalic catheter allowed reliable serial collection of 4-mL blood samples over 13 h in conscious dogs. [source] Examining the location and cause of death within 30 days of radical prostatectomyBJU INTERNATIONAL, Issue 4 2005Shabbir M.H. Alibhai OBJECTIVES To better characterize the cause and location of death after radical prostatectomy (RP), as early mortality is relatively uncommon after RP, with little known about the cause of death among men who die within 30 days of RP, and the trend toward earlier discharge after surgery means that a greater proportion of early mortality after RP may occur out of hospital. PATIENTS AND METHODS Using the Ontario Cancer Registry, we identified 11 010 men (mean age 68 years) who had a RP in the province of Ontario between 1990 and 1999. We identified the occurrence and location of all deaths within 30 days of RP. The cause of death was obtained from death certificate information. Logistic regression was used to examine factors (age, comorbidity, year of surgery) associated with the location of death. RESULTS Of the 11 010 men, 53 died within 30 days of RP (0.5%); of these 53 men, 28 (53%) died in hospital. Neither age, comorbidity nor year of surgery were significantly associated with location of death (P > 0.05). Major causes of death included cardiovascular disease (38%) and pulmonary embolism (13%). More than half of the patients who died out of hospital had an unknown cause of death. CONCLUSIONS Almost half of all deaths within 30 days of RP occur out of hospital; the two most common causes of death are potentially preventable. More detailed cause-of-death information may help to identify opportunities for prevention. [source] Activated protein C levels in Behçet's disease and risk of venous thrombosisBRITISH JOURNAL OF HAEMATOLOGY, Issue 4 2004Silvia Navarro Summary Behçet's disease is a multi-systemic inflammatory disorder of unknown cause. Most abnormalities have been associated with endothelial injury caused by vasculitis. Thrombosis occurs in about 25% of patients, although the mechanism is unknown. The objective of this study was to evaluate the protein C activation system in Behçet's disease and its correlation with venous thromboembolism (VTE). Thirty-nine patients (12 with VTE) and 78 age- and sex-matched controls were included in the study, and levels of protein C, protein S, activated protein C (APC), protein C inhibitor (PCI), soluble thrombomodulin (TM), antithrombin (AT), ,1 -antitrypsin, fibrinogen, factor VIII, von Willebrand factor (VWF) and C-reactive protein (CRP) were measured. APC and TM levels were significantly lower in patients than in controls, whereas protein S, AT, ,1 -antitrypsin, fibrinogen, factor VIII, VWF and CRP levels were significantly higher in patients than in controls. APC, PCI and TM levels were lower in patients with VTE (0·65 ± 0·19 ng/ml, 86% ± 22% and 15·5 ± 7·1 ng/ml respectively) than in those without VTE (0·78 ± 0·17 ng/ml, 100% ± 15% and 22·1 ± 15·3 ng/ml) (P < 0·05). In patients, APC levels below 0·75 ng/ml (10th percentile of the control group) increased the risk of VTE about fivefold (odds ratio = 5·1; 95% confidence interval = 1·1,23·4). These results show that reduced APC levels are associated with the high incidence of VTE in Behçet's disease. [source] Multiple sclerosis incidence in the era of measles-mumps-rubella mass vaccinationsACTA NEUROLOGICA SCANDINAVICA, Issue 5 2009C. Ahlgren Background,,, Viral childhood infections may be involved in the multiple sclerosis (MS) pathogenesis. Following national Swedish vaccination programs, measles sharply declined in the 1970s, and measles, mumps, and rubella were virtually eliminated in cohorts born from 1981. Objectives,,, To examine whether the vaccination induced reduction in these infections influences the MS incidence. In addition, the public health aspect justified an early evaluation of beneficial as well as harmful effects of mass vaccinations. Materials and methods,,, From an incidence material of 534 MS patients, born 1959,1990, we selected one unvaccinated cohort and four cohorts, each corresponding to a vaccination program (MS patients = 251). Results,,, With the ability to detect a decrease by 30,35%, and an increase by 37,48% in the MS incidence in the first three cohorts, we found no vaccination related MS incidence changes. The background MS incidence showed a significant gradual age dependent increase. Conclusions,,, While the present follow-up provided limited power in the last cohort, there is no evidence as yet that the radical decline in three viral infections influenced the MS incidence. However, the increasing background MS incidence of unknown cause may have concealed a reduction in MS risk associated with mass vaccinations. [source] Hypereosinophilic syndrome with various skin lesions and juvenile temporal arteritisCLINICAL & EXPERIMENTAL DERMATOLOGY, Issue 5 2009K. Ito Summary Hypereosinophilic syndrome (HES) is a multisystem disease with a high mortality rate. It is characterized by peripheral blood eosinophilia and eosinophilic infiltration of the skin and many other organs. The commonest cutaneous features include erythematous pruritic maculopapules and nodules, angio-oedema or urticarial plaques. However, some case reports have indicated that eosinophilic cellulitis, cutaneous necrotizing eosinophilic vasculitis, Raynaud's phenomenon and digital gangrene may also occur as cutaneous features of HES. Juvenile temporal arteritis (JTA) of unknown cause is characterized by an asymptomatic nodule in the temporal artery area in young adults. Histologically, the lesion is characterized by a significant intimal thickening with moderate eosinophilic infiltrates, constriction or occlusion of the vascular lumen and absence of giant cells. We report a patient with HES presenting with eosinophilic cellulitis, Raynaud's phenomenon, digital gangrene and JTA. JTA may also be one of the features of HES. [source] Mortality dynamics and population regulation in Bemisia tabaciENTOMOLOGIA EXPERIMENTALIS ET APPLICATA, Issue 2 2005Steven E. Naranjo Abstract Natural mortality is an important determinant of the population dynamics of a species, and an understanding of mortality forces should aid in the development of better management strategies for insect pests. An in situ, observational method was used to construct cohort-based life tables for Bemisia tabaci (Gennadius) Biotype B (Homoptera: Aleyrodidae) over 14 generations on cotton in central Arizona, USA, from 1997 to 1999. In descending order, median marginal rates of mortality were highest for predation, dislodgment, unknown causes, egg inviability, and parasitism. The highest mortality occurred during the 4th nymphal stadium, and the median rate of immature survival over 14 generations was 6.6%. Predation during the 4th nymphal stadium was the primary key factor. Irreplaceable mortality was highest for predation and dislodgment, with the absence of these mortality factors leading to the greatest increases in estimated net reproduction. There was little evidence of direct or delayed density-dependence for any mortality factor. Wind, rainfall, and predator densities were associated with dislodgment, and rates of predation were related to densities of Geocoris spp., Orius tristicolor (White), Chrysoperla carnea s.l. Stephens, and Lygus hesperus Knight. Simulations suggest that immigration and emigration play important roles in site-specific dynamics by explaining departures from observed population trajectories based solely on endogenous reproduction and mortality. By a direct measurement of these mortality factors and indirect evidence of adult movement, we conclude that efficient pest management may be best accomplished by fostering greater mortality during the 4th stadium, largely through a conservation of predators and by managing immigrating adult populations at their sources. [source] Epidemiological study of acute encephalitis in Tottori Prefecture, JapanEUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2008K. Wada-Isoe Background and purpose:, To conduct an epidemiological survey of acute encephalitis focusing on non-herpetic acute limbic encephalitis (NHALE) in Tottori Prefecture, western area of Japan. Methods:, A questionnaire survey on the annual number of patients aged 16 years or more with acute encephalitis from 2001 to 2005 was undertaken in 2006. Results:, During the study period, 49 patients were diagnosed with acute encephalitis. The subtype of acute encephalitis was as follows: 10 patients with herpes simplex encephalitis (HSE), 12 patients with NHALE, 4 patients with paraneoplastic encephalitis, 2 patients with encephalitis associated with collagen disease, one patient with viral encephalitis other than HSE, 20 patients with encephalitis with unknown causes. The service-based incidence rate of acute encephalitis was 19.0 per million person-years. The incidence rate of NHALE subtype was 4.7 per million person-years. Conclusions:, Our epidemiological survey indicated an estimated 550 patients would develop NHALE per year in Japan, suggesting that NHALE may not be a rare disorder. [source] The role of zoos in biosurveillanceINTERNATIONAL ZOO YEARBOOK, Issue 1 2007T. McNAMARA Zoos are ideally placed to act as epidemiological monitoring stations because for decades, many have been building up detailed collections of serum banks, tissue banks and medical record-keeping systems that could be mined for information that would be beneficial to public health. For example, in 1999 wild Crows Corvus brachyrhynchos in the United States of America started to die of unknown causes but it was not until some died in the grounds of a zoological institution that West Nile virus, which is a threat to both human and animal health, was identified. There is a serious disparity in the type and amount of biosurveillance provided for humans, agricultural livestock and wildlife agencies, often driven by economic factors. There is an argument for public-health entities to contribute funds to the cost of managing serum-banks and testing stations within zoos to enhance biosurveillance in urban settings, in a cost-effective and mutually beneficial manner. The key to sustainable and integrated biosurveillance lies in public-health professionals working with zoo professionals, who care for wild animals on a day-to-day basis, to create electronic surveillance networks. This could be of utmost benefit to everyone. [source] CLOSTRIDIUM TETANUS INFECTION IN 13 DOGS AND ONE CATJOURNAL OF VETERINARY EMERGENCY AND CRITICAL CARE, Issue S1 2004C Bandt Clostridium tetani infection is uncommon in dogs and cats. Up to this point in time just single case reports have been published in veterinary medicine. The goal of this retrospective study was to describe the clinical features and outcome of 13 dogs and one cat affected with Clostridium tetani. The medical records of the last ten year were reviewed. Dogs and cats that were identified as being infected with Clostridium tetani on the basis of characteristic clinical signs and/or bacterial culture from infected wounds were eligible for study inclusion. Thirteen dogs and one cat met the criteria for study inclusion. Six different breeds and mix-breed dogs were affected, German Shepherd dogs (n=4, 29%) and Labrador retriever (n=3, 21%) were the most frequently affected breeds. Observed clinical complications were ventricular aspiration pneumonia (n=7), laryngeal spasm (n=6), hypersalivation (n=4), ventricular tachycardia (n=3), and third degree AV block (n=1). Median days from onset of clinical signs until first signs of improvement were 10 days (range: 9,12 days). Median hospitalisation time was 18 days (range: 14,22 days). Six animals showed full recovery and 8 animals died or were euthanized. Death was associated with acute onset of ventricular tachycardia in 2 dogs, 1 dog died with non-responsive third degree AV-block, 3 dogs died after developing aspiration pneumonia, and 1 dog died of unknown causes. [source] | ||||||||||||||||||||||||||||||||||