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System Involvement (system + involvement)
Kinds of System Involvement Selected AbstractsHypereosinophilic Syndrome Presenting with Biventricular Cardiac ThrombiECHOCARDIOGRAPHY, Issue 6 2010Ankur Lodha M.D. Hypereosinophilic syndrome is a rare condition characterized by idiopathic eosinophilia with organ system involvement. Cardiac involvement portends a less favorable prognosis as it can be complicated by development of heart failure, valvular dysfunction, and restrictive cardiomyopathy. We present a rare case of hypereosinophilic syndrome with FIP1L1/PDGFRA fusion in a 50-year-old male associated with thrombus in left and right ventricle. (Echocardiography 2010;27:E57-E59) [source] Neurological manifestations of antiphospholipid syndromeEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 4 2010Carlos E. M. Rodrigues Eur J Clin Invest 2010; 40 (4): 350,359 Abstract Background, Neurologic disorders are among the most common and important clinical manifestations associated with the antiphospholipid syndrome (APS). It is characterized by diverse neurological manifestations. These include stroke, transient ischaemic attack, Sneddon's syndrome, convulsions/epilepsy, dementia, cognitive deficits, headaches/migraine, chorea, multiple sclerosis-like, transverse myelitis, ocular symptoms and Guillain,Barré syndrome. Material and methods, We review the latest data about neurologic disorders and APS. Results, In patients under 45 years of age, 20% of strokes are potentially associated with APS. Our study group recently reported a correlation between primary APS and peripheral neuropathy. Only one study investigated the occurrence of peripheral neuropathy in patients diagnosed with PAPS through electrophysiological study and showed alterations in 35% of patients. The mechanism of nervous system involvement in APS is considered to be primarily thrombotic. However, other mechanisms have been described, such as antiphospholipid antibodies that bind to the neural tissue, deregulating their functions and having an immediate pathogenic effect. Conclusions, This review summarizes the latest data regarding the clinical aspects, radiological and therapeutic of major neurologic manifestations associated with antiphospholipid antibodies. [source] Central nervous system involvement in diffuse large B-cell lymphomaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 1 2010Wataru Yamamoto Abstract Background:,Malignant lymphoma with central nervous system (CNS) involvement has an extremely poor prognosis. We retrospectively studied the risk factors for CNS involvement in patients with diffuse large B-cell lymphoma (DLBCL) treated by cyclophosphamide, doxorubicin, vincristine, and prednisone (CHOP) or rituximab (R) -CHOP chemotherapy. Patients and methods:,We studied 375 consecutive patients who were newly diagnosed with DLBCL between 1996 and 2006. Patients with primary CNS involvement and patients who received CNS prophylaxis were excluded. All the patients received CHOP (n = 172) or R-CHOP (n = 203) chemotherapy. The following variables were assessed for their potential to predict CNS involvement: gender, age, serum lactate dehydrogenase (LDH) level, performance status, clinical stage, number of extranodal involvements, International Prognostic Index (IPI), bone marrow involvement, presence of a bulky mass, presence of B symptom, and treatment. Results:,CNS involvement was observed in 13 cases (3.5%). In univariate analysis, LDH more than normal range, LDH more than twice as normal range, high IPI, bone marrow involvement, and systemic relapse were the predictors for CNS involvement. In multivariate analysis, no risk factors were detected for CNS involvement. The use of rituximab did not have an impact on CNS involvement. Conclusions:,The incidence of CNS involvement dose not decrease in rituximab-era. [source] Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations,HUMAN MUTATION, Issue 1 2010Alessandra Pangrazio Abstract The "Osteopetroses" are genetic diseases whose clinical picture is caused by a defect in bone resorption by osteoclasts. Three main forms can be distinguished on the basis of severity, age of onset and means of inheritance: the dominant benign, the intermediate and the recessive severe form. While several genes have been involved in the pathogenesis of the different types of osteopetroses, the CLCN7 gene has drawn the attention of many researchers, as mutations within this gene are associated with very different phenotypes. We report here the characterization of 25 unpublished patients which has resulted in the identification of 20 novel mutations, including 11 missense mutations, 6 causing premature termination, 1 small deletion and 2 putative splice site defects. Careful analysis of clinical and molecular data led us to several conclusions. First, intermediate osteopetrosis is not homogeneous, since it can comprise both severe dominant forms with an early onset and recessive ones without central nervous system involvement. Second, the appropriateness of haematopoietic stem cell transplantation in CLCN7-dependent ARO patients has to be carefully evaluated and exhaustive CNS examination is strongly suggested, as transplantation can almost completely cure the disease in situations where no primary neurological symptoms are present. Finally, the analysis of this largest cohort of CLCN7-dependent ARO patients together with some ADO II families allowed us to draw preliminary genotype-phenotype correlations suggesting that haploinsufficiency is not the mechanism causing ADO II. The availability of biochemical assays to characterize ClC-7 function will help to confirm this hypothesis. © 2009 Wiley-Liss, Inc. [source] Atypical presentations of thrombotic thrombocytopenic purpura: A review,JOURNAL OF CLINICAL APHERESIS, Issue 1 2009Ravi Sarode Abstract Thrombotic thrombocytopenic purpura (TTP) is diagnosed by the presence of microangiopathic hemolytic anemia and thrombocytopenia in a patient who frequently presents with central nervous system involvement and, to a lesser extent, renal dysfunction. Recent understanding of the pathophysiology of TTP due to severe deficiency of von Willebrand factor cleaving protease, known as ADAMTS13, has improved diagnosis of TTP. Once the diagnosis is suspected, life-saving therapeutic plasma exchange therapy is initiated. Occasionally, an unusual clinical presentation makes TTP diagnosis difficult, thus resulting in a delay in the management of TTP. This review highlights a variety of atypical TTP presentations described in the literature. It is intended to bring unusual scenarios to the clinician's awareness, so that timely treatment can be delivered. J. Clin. Apheresis, 2009. © 2008 Wiley-Liss, Inc. [source] An Unusual Presentation of Rheumatoid MeningitisJOURNAL OF NEUROIMAGING, Issue 3 2005Vaidehi Chowdhry MD ABSTRACT Background. Central nervous system involvement in rheumatoid arthritis can rarely occur in the absence of systemic disease. Rheumatoid meningitis has not been reported to present as spells of neurologic dys-function. Patient and Methods. The authors describe a woman with a history of well-controlled rheumatoid arthritis who presented with headaches and spells of focal neurological dysfunction. Brain magnetic resonance imaging, brain biopsy, and temporal artery biopsy were required to make the diagnosis of rheumatoid meningitis with arteritis. Results. Neuroimaging revealed abnormal leptomeningeal enhancement. Necrotizing granulomatous inflammation was seen on meningeal and brain biopsy. A temporal artery biopsy showed evidence of arteritis without giant cells. Conclusions. The possibility of central nervous system involvement by rheumatoid arthritis should be considered in patients with a history of rheumatoid arthritis even in the absence of systemic symptoms. Making the diagnosis may require meningeal and brain biopsy. The condition may be steroid responsive. [source] Peripheral nervous system involvement as presenting symptom of systemic B-cell lymphomaJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2004C Casellato Peripheral nervous system involvement has been reported in systemic B or T cell lymphoma and may result from intraneural localization of lymphoma resulting in meningo-radiculopathy or mononeuropathies, or manifest as a sensory-motor polyneuropathy sometimes mimicking chronic inflammatory demyelinating polyneuropathy. We report two patients with a previously unknown NHL presenting in both with a stepwise progressive asymmetric multiradiculoneuropathy initially misdiagnosed as inflammatory radiculopathy. A 58-year-old man presented with a 2 year history of stepwise progressive peroneal sensory loss, impotence, and lower limb painful asymmetric neuropathy. Lumbosacral MRI was normal. Electrophysiological studies were consistent with an axonal multiradiculoneuropathy while CSF examinations repeatedly showed increased protein levels (80,91 mg/dl) with slightly increased white cells (<10 mm3) but no malignant cell. The patient repeatedly failed to respond to steroids although he consistently deteriorated at their suspension. An MRI performed 2 years later when multiple cranial nerve palsies appeared showed bilateral T1 and T2 hyperintensities in the brain and cervical spinal cord. An extensive investigation for neoplasm was negative. The patient died from an intracranial hemorrhage during anticoagulant therapy for deep vein thrombosis. Autoptic studies revealed a widespread non-Hodgkin's type B lymphoma with massive systemic and neural involvement including cauda equina and spinal cord. A 54-year-old man presented with a 1 year history of impotence, urinary incontinence, progressive asymmetric painful distal sensorimotor impairment at four limbs and prominent weight loss. Four previous CSF examinations revealed increased protein levels (80,100 mg/dl), and slightly but inconsistently increased white cells (1,11/mm3) but no malinant cells. Steroids were repeatedly ineffective although the patient consistently deteriorated whenever steroids were discontinued. On admission electrophysiological studies showed an axonal asymmetric polyradiculoneuropathy. Brain and spinal MRI was normal while bone marrow biopsy and aspiration disclosed a B cell lymphoma. [source] AUTOMIC FAILURE AND NORMAL PRESSURE HYDROCEPHALUS IN A PATIENT WITH CHRONIC DEMYELINATING INFLAMMATORY NEUROPATHYJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2002M. Laurà A 75-year-old man with HCV hepatitis developed at the age of 70 presented with rest and action tremor localized at both hands and progressive cognitive impairment with memory loss. Four years later he begun to complain of progressive fatigue, occasional falls, numbness at the extremities and orthostatic hypotension. One month after admission, he rapidly worsened with inability to walk, mainly because of autonomic failure. Neurological examination revealed gait disturbances, including a wide base of support and short stride, slurred speech, reduction of upward gaze, rest and action tremor at both hands, intrinsic hand muscle and anterior tibialis muscle wasting and weakness on both sides, absent deep tendon reflexes, loss of vibration sense at lower limbs, and bilateral pes cavus. Routine laboratory studies, autoantibodies, thyroid function, neoplastic markers and immunoelectrophoresis were normal. Cryoglobulins were absent, whereas CSF protein content was increased (142 mg/dl). Autonomic nervous system investigation detected severe orthostatic hypotension. Nerve conduction studies showed absent sensory potentials and a marked reduction of compound motor action potential amplitudes and of motor conduction velocities. A sural nerve biopsy revealed remarkable onion bulb-like changes, endoneurial and perivascular infiltrations of inflammatory cells. Psychometric tests showed mild cognitive impairment. Brain MRI was consistent with normotensive hydrocephalus. The findings indicated the presence of chronic inflammatory demyelinating polyneuropathy, autonomic nervous system involvement and normal pressure hydrocephalus. A condition of multiple system atrophy (MSA) might be taken into account, even if somatic peripheral nerve involvement may rarely occur in MSA. Moreover the normal pressure hydrocephalus could be due to the high protein content in CSF (Fukatsu R et al., 1997). [source] Axonal Neuropathy Associated With Cold Agglutinins: A Vasculitic-Ischaemic NeuropathyJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 1 2001G Bezzi Cold agglutinin (CA) disease is an autoimmune hemolytic process characterized by chronic anemia, hemoglobinuria, cold induced rash, and acrocyanosis of exposed body parts. Although few cases of peripheral neuropathies have been observed in patients with CA, the mechanism of peripheral nervous system involvement is still uncertain. However, similar to other neuropathies due to IgM paraproteinaemia, such as anti-myelin associated glycoprotein, or anti-acidic glycolipid sulphate-3-glucuronyl paragloboside, the direct effect of the antibody on nerve constituents is considered the pathogenetic mechanism causing the demyelinating neuropathy. We report a patient with CA and sensorimotor peripheral neuropathy with electrophysiological and histological findings of a severe acute axonal neuropathy. Pathological findings show vascular damage in the nerve, suggesting a major role for ischaemic/vasculitic pathogenetic mechanism of the peripheral neuropathy in CA. [source] The King County (Washington) Systems Integration Initiative: A First Look at the Kent District Dual System Youth Pilot ProgramJUVENILE AND FAMILY COURT JOURNAL, Issue 4 2009Gene Siegel ABSTRACT King County is one of five counties in Washington State participating in the John D. and Catherine T. MacArthur Foundation's Models for Change juvenile justice reform initiative. One key aspect of King County's Models for Change participation involves ongoing "systems integration" work intended to improve how youth who have cross-over involvement in multiple systems,e.g., juvenile justice, child welfare, education, mental health, and/or others,are handled. These cross-over cases often present a range of challenges to juvenile courts including substantial risk factors that increase their likelihood of continuing system involvement. This article provides a first look at an emerging pilot project in King County that is intended to improve how cross-over cases are handled by child welfare and juvenile probation with the longer term goal of improving outcomes for these difficult cases. [source] Clinical and electrophysiological parameters distinguishing acute-onset chronic inflammatory demyelinating polyneuropathy from acute inflammatory demyelinating polyneuropathyMUSCLE AND NERVE, Issue 2 2010Annie Dionne MD Abstract Up to 16% of chronic inflammatory demyelinating polyneuropathy (CIDP) patients may present acutely. We performed a retrospective chart review on 30 acute inflammatory demyelinating polyneuropathy (AIDP) and 15 acute-onset CIDP (A-CIDP) patients looking for any clinical or electrophysiological parameters that might differentiate AIDP from acutely presenting CIDP. A-CIDP patients were significantly more likely to have prominent sensory signs. They were significantly less likely to have autonomic nervous system involvement, facial weakness, a preceding infectious illness, or need for mechanical ventilation. With regard to electrophysiological features, neither sural-sparing pattern, sensory ratio >1, nor the presence of A-waves was different between the two groups. This study suggests that patients presenting acutely with a demyelinating polyneuropathy and the aforementioned clinical features should be closely monitored as they may be more likely to have CIDP at follow-up. Muscle Nerve, 2010 [source] Subacute inflammatory polyradiculopathy associated with Sjögren's syndromeMUSCLE AND NERVE, Issue 6 2009Andrea Rigamonti MD Abstract Peripheral nervous system involvement is common in Sjögren's syndrome (SS); however, polyradiculopathy has been reported rarely in association with SS, and predominantly chronic forms have been described. We describe a patient with clinical, cerebrospinal fluid, neurophysiological, and neuroradiological evidence of subacute inflammatory polyradiculopathy in whom Sjögren's syndrome was diagnosed after the onset of neurological symptoms. Our case suggests that SS should be included in the differential diagnosis of subacute inflammatory polyradiculopathy. Muscle Nerve, 2009 [source] Characterization of the Electroanatomic Substrate for Monomorphic Ventricular Tachycardia in Patients with Nonischemic CardiomyopathyPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 7 2002HENRY H. HSIA HSIA, H.H., et al.: Characterization of the Electroanatomic Substrate for Monomorphic Ventricular Tachycardia in Patients with Nonischemic Cardiomyopathy. Ventricular arrhythmias are common in the setting of nonischemic cardiomyopathy. The etiology for the cardiomyopathy is frequently not identified and the label of "idiopathic" is applied. Interstitial fibrosis with conduction system involvement and associated left bundle branch block characterizes the disease process in some patients and the mechanism for monomorphic ventricular tachycardia is commonly bundle branch reentry. However, most patients with nonischemic cardiomyopathy have VT due to myocardial reentry and demonstrate marked myocardial fibrosis and electrogram abnormalities. Although patient specific, the overall distribution of electroanatomic abnormalities appears to be equal on the endocardium and epicardium. The extent of electrogram abnormalities appears to parallel arrhythmia presentation and/or inducibility. Patients with sustained uniform morphology VT have the most extensive endocardial and epicardial electrogram abnormalities. Magnetic electroanatomic voltage mapping provides a powerful tool to characterize the location and extent of the arrhythmia substrate. Basal left ventricular myocardial involvement, as indexed by the location of contiguous electrogram abnormalities, is common in patients with sustained VT and left ventricular cardiomyopathy. The relatively equal distribution of electrogram abnormalities on the endocardium and epicardium, and the results of mapping and ablation attempts, suggest that critical parts of the reentrant circuit may be epicardial. Unique features of the electroanatomic substrate associated with cardiomyopathy due to Chagas' disease, sarcoidosis, and arrhythmogenic right ventricular dysplasia are also discussed. [source] Microchip, reverse transcription-polymerase chain reaction and culture methods to detect enterovirus infection in pediatric patientsPEDIATRICS INTERNATIONAL, Issue 1 2006LON-YEN TSAO Abstract Background: Enterovirus infection usually presents with mild and self-limited illness in children. However, Enterovirus type 71 can be characterized by neurotropism and may cause severe illness or even sudden death. Early detection of the virus will allow a physician to provide intensive or aggressive intervention. The purpose of the present study was to compare sensitivity of two innovative laboratory methods, that is, the DR.EV microchip method (DR. Chip Biotechnology, Shin-Tsu, Taiwan) and the reverse transcription-polymerase chain reaction (RT-PCR) method following conventional virus culture in detecting enterovirus infection in pediatric patients with herpangina or hand,foot,mouth disease. Methods: A total of 87 children (age range: 1,8 years) were enrolled because of typical clinical findings of herpangina and hand,foot,mouth disease. Two hundred children selected after a careful clinical history review and physical examinations, were included as controls. All of these children had at least throat swab and rectal swab specimens taken and tested for evidence of enterovirus infection by microchip, RT-PCR and virus culture methods. In addition, 21 patients also had cerebrospinal fluid (CSF) specimens taken to test for possible central nervous system involvement. Result: The test results obtained from the 200 healthy kindergarten children were all negative for enteroviral infection by these three methods. Among the 87 test patients, the positive rates for throat swab, rectal swab and CSF by DR.EV chip, RT-PCR and virus culture were 71%, 68%, and 45% (throat swab); 66%, 61%, and 33% (rectal swab); and 52%, 29%, and 5% (CSF), respectively. There was no significant difference in the positive rates between the DR.EV chip and the RT-PCR methods (P > 0.1) on all types of specimens. However, statistically significant differences in positive rates were noted between the DR.EV chip and the conventional virus culture methods on all types of specimens (P < 0.001). Sensitivity of the microchip, RT-PCR and virus culture methods, was 82%, 72%, and 53%, respectively. Conclusion: The DR.EV chip method yielded a statistically higher positive rate and faster test results than the conventional viral culture method. [source] Five Fanconi anemia patients with unusual organ pathologiesAMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2004Selma Unal Abstract Fanconi anemia (FA) is a rare autosomal recessive disorder that presents with variable organ abnormalities, progressive cytopenia, and susceptibility to the development of several malignancies. Although some of the organ pathologies such as microcephaly, microphthalmia, skin dyspigmentation, urogenital system involvement, and radial ray skeletal abnormalities are relatively common, there are some other abnormalities that are rarely associated with the disease [Alter BP. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia: Saunders; 2003. p 259,273]. In this paper, five cases of unrelated FA patients with unusual organ pathologies, including chronic obstructive lung disease, lipodystrophy, Sprengel's deformity, diaphragmatic hernia, and inflammatory linear verrucous epidermal nevus (ILVEN) are presented. Recognition of unusual pathologies associated with FA is important in order to improve our understanding of the relationship between the disease and presenting organ pathologies. Am. J. Hematol. 77:50,54, 2004. © 2004 Wiley-Liss, Inc. [source] Mortality in Behçet's diseaseARTHRITIS & RHEUMATISM, Issue 9 2010D. Saadoun Objective To report the long-term mortality in patients with Behçet's disease (BD). Methods A cohort of 817 patients fulfilling the international criteria for BD from a single center in France were analyzed for causes of death, the standardized mortality ratio (SMR), and the factors associated with mortality. Results Among the 817 patients with BD, 41 (5%) died after a median followup of 7.7 years, of whom 95.1% were male. The mean ± SD age at death was 34.8 ± 11.9 years. Main causes of death included major vessel disease (mainly, arterial aneurysm and Budd-Chiari syndrome) (43.9%), cancer and malignant hemopathy (14.6%), central nervous system involvement (12.2%), and sepsis (12.2%). The mortality rate at 1 year and 5 years was 1.2% and 3.3%, respectively. There was an increased mortality among patients ages 15,24 years (SMR 2.99, 95% confidence interval [95% CI] 1.54,5.39) and those ages 25,34 years (SMR 2.90, 95% CI 1.80,4.49) as compared with age-and sex-matched healthy controls. The mortality decreased in patients older than age 35 years (SMR 1.23, 95% CI 0.75,1.92). In multivariate analyses, male sex (hazard ratio [HR] 4.94, 95% CI 1.53,16.43), arterial involvement (HR 2.51, 95% CI 1.07,5.90), and a high number of BD flares (HR 2.37, 95% CI 1.09,5.14) were independently associated with the risk of mortality. Conclusion The overall mortality in our BD cohort was 5% after a median followup of 7.7 years. Male sex, arterial involvement, and the number of flares were associated with mortality in BD. [source] High-dose cyclophosphamide versus monthly intravenous cyclophosphamide for systemic lupus erythematosus: A prospective randomized trial,ARTHRITIS & RHEUMATISM, Issue 5 2010Michelle Petri Objective Monthly intravenous (IV) cyclophosphamide for 6 months has been the standard induction regimen for lupus nephritis, followed by a maintenance regimen of quarterly infusions for 2 years. We undertook this study to compare the efficacy and safety of the standard regimen versus a high-dose IV cyclophosphamide regimen. Methods We performed a prospective randomized trial comparing monthly IV cyclophosphamide at 750 mg/m2 body surface area for 6 months followed by quarterly IV cyclophosphamide for 2 years (traditional treatment) against high-dose IV cyclophosphamide (50 mg/kg daily for 4 days) (high-dose treatment). Entry criteria included renal lupus, neurologic lupus, or other organ system involvement with moderate-to-severe activity. Results Fifty-one patients were randomized; 3 withdrew before treatment and 1 committed suicide after 2 months of high-dose treatment. Twenty-two had renal lupus, 14 had neurologic lupus, and 11 had other organ involvement. The outcome measure was the Responder Index for Lupus Erythematosus (complete response, partial response, no change, or worsening). At 6 months (the end of induction), 11 of 21 patients (52%) in the high-dose treatment group had a complete response compared with 9 of 26 patients (35%) in the traditional treatment group (P = 0.13). At the final visit (30 months), 10 of 21 patients (48%) in the high-dose treatment group had a complete response compared with 13 of 20 patients (65%) who continued with traditional treatment (P = 0.13). Six patients crossed over from traditional treatment to high-dose treatment because of lack of response, and 3 of those patients became complete responders. Conclusion There was not strong evidence that monthly IV cyclophosphamide and high-dose IV cyclophosphamide differed in complete or in any (complete or partial) response to induction or maintenance therapy. However, nonresponders to monthly IV cyclophosphamide can sometimes be rescued with high-dose IV cyclophosphamide. [source] Anti,U3 RNP autoantibodies in systemic sclerosisARTHRITIS & RHEUMATISM, Issue 4 2009Rohit Aggarwal Objective To describe the classification, demographic and clinical features, and survival in anti,U3 RNP autoantibody,positive patients with systemic sclerosis (SSc). Methods Medical records of 108 anti,U3 RNP,positive and 2,471 anti,U3 RNP,negative SSc patients first evaluated during 1985,2003 were reviewed. Anti,U3 RNP antibody was detected by protein and RNA immunoprecipitation. Disease classification, demographic and clinical features, organ system involvement, and survival were compared between the 2 patient groups, by Student's t -test, chi-square analysis, and Mantel-Haenszel test. Results The anti,U3 RNP,positive group had a higher proportion of African American patients (27% versus 5%; P < 0.001) and male patients (29% versus 19%; P = 0.021), and was younger at the time of first physician diagnosis (mean age 42.8 years versus 47.4 years; P = 0.001). The 2 groups had similar proportions of patients with diffuse cutaneous involvement (47% and 45% in those with and those without anti,U3 RNP, respectively). However, among patients with diffuse cutaneous involvement, the mean maximum modified Rodnan skin score was significantly lower in the anti,U3 RNP group (22.3 versus 27.9; P < 0.001). Skeletal muscle involvement was more frequent in anti,U3 RNP,positive patients (25% versus 14%; P = 0.002), as was "intrinsic" pulmonary arterial hypertension (PAH) (31% versus 13%; P < 0.001). The frequency of gastrointestinal involvement, cardiac involvement, pulmonary fibrosis, and "renal crisis" did not differ significantly between the 2 groups. Survival was worse in the anti,U3 RNP,positive group (hazard ratio 1.38 [95% confidence interval 1.05,1.82]). PAH was the most common known cause of death in patients with anti,U3 RNP (30%, versus 10% in the anti,U3 RNP,negative group; P < 0.001). Conclusion The present findings demonstrate that the frequencies of African American race and male sex are greater among SSc patients with anti,U3 RNP antibody than those without, and the former group is younger at SSc diagnosis. Anti,U3 RNP,positive patients have more frequent skeletal muscle involvement and PAH, the latter being the most common cause of death. [source] correspondence: Central nervous system involvement in adult T-cell lymphoma diagnosed with T-cell receptor gene clonality testing of cerebrospinal fluidBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2010Shoko Nakayama-Ichiyama No abstract is available for this article. [source] Imatinib mesylate has limited activity against the central nervous system involvement of Philadelphia chromosome-positive acute lymphoblastic leukaemia due to poor penetration into cerebrospinal fluidBRITISH JOURNAL OF HAEMATOLOGY, Issue 1 2002Nobuyuki Takayama Summary. A 32-year-old woman with relapsed Philadelphia chromosome-positive acute lymphoblastic leukaemia was treated with imatinib mesylate (formerly STI571), a selective inhibitor of BCR/ABL tyrosine kinase. Although the initial marrow response was good and stably maintained, she subsequently relapsed with extensive infiltration of leukaemic cells into the central nervous system (CNS). After controlling her CNS disease with additional intrathecal chemotherapy, we measured the concentration of imatinib in cerebrospinal fluid (CSF) and blood simultaneously. The concentration of imatinib in CSF was about 92-fold lower than that in blood. These results suggest that imatinib poorly penetrates the blood,brain barrier and has limited activity against CNS leukaemia. [source] The clinical and neuroimaging studies in Holmes tremorACTA NEUROLOGICA SCANDINAVICA, Issue 5 2010A. Gajos Gajos A, Bogucki A, Schinwelski M, So,tan W, Rudzi,ska M, Budrewicz S, Koszewicz M, Majos A, Górska-Chrz,stek M, Bie,kiewicz M, Ku,mierek J, S,awek J. The clinical and neuroimaging studies in Holmes tremor. Acta Neurol Scand: 2010: 122: 360,366. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Aim,,, Holmes tremor (HT) is a combination of rest, postural and action tremor. A parallel dysfunction of cerebello-thalamic and nigrostriatal pathways seems necessary to produce this kind of tremor. We present the clinical and neuroimaging study verifying that hypothesis. Material and methods,,, A total of 10 patients: five male, five female, fulfilling consensus criteria were included. Demographic, clinical and neuroimaging data (MRI = 9; CT = 1, SPECT with the use of 123-I-FP CIT: DaTSCAN in six patients to assess the presynaptic dopaminergic nigrostriatal system involvement, indices of asymmetry for ligand uptake for each striatum were calculated) were analyzed. Results,,, Hemorrhage was the most frequent etiology and thalamus , the most commonly involved structure. Contrary to the previous reports, the visual assessment did not reveal remarkable interhemispheric differences of DaTSCAN uptake. Quantitative measurements showed only minimal differences. Conclusions,,, It is open to debate whether nigrostriatal pathway damage is crucial for the phenomenology of HT. Alternative hypothesis is presented that HT represents the heterogeneous spectrum of tremors with similar phenomenology, but different pathophysiology. [source] Chronic inflammatory demyelinating polyradiculoneuropathy in children: characterized by subacute, predominantly motor dominant polyeuropathy with a favorable response to the treatmentACTA NEUROLOGICA SCANDINAVICA, Issue 5 2010H. Y. Jo Jo HY, Park M-G, Kim D-S, Nam S-O, Park K-H. Chronic inflammatory demyelinating polyradiculoneuropathy in children: characterized by subacute, predominantly motor dominant polyeuropathy with a favorable response to the treatment. Acta Neurol Scand: 2010: 121: 342,347. © 2009 The Authors Journal compilation © 2009 Blackwell Munksgaard. Objectives,,, Chronic inflammatory demyelinating polyradiculopathy (CIDP) is less well-studied in children than in adults, probably due to its relative rarity. This study was performed in order to characterize the clinical features of CIDP in children. Materials and methods,,, Twenty-eight patients with CIDP who were followed up for more than 1 year were included, and were divided into a child (n = 7, age <16) and an adult group (n = 21, age ,16). Then, we have assessed the initial progression pattern, clinical course, and serial nerve conduction findings in each patient. Finally, differential features in child and adult group were analyzed. Results,,, Distinguishing features in the child group include subacute progression within less than 2 months, predominant motor system involvement in lower extremities, and marked improvement in response to immune modulating therapy. Our study also suggested that serial nerve conduction study may be useful in assessing the effectiveness of the treatment in children. Conclusions,,, Our study showed that children with CIDP have some distinguishing features from adults in terms of clinical course and response to treatment. [source] Bilateral blepharospasm as the presenting symptom of Sjögren's syndrome with evidence of central nervous system involvementACTA NEUROPSYCHIATRICA, Issue 5 2010Odysseas Kargiotis No abstract is available for this article. [source] Delirium in a patient with natural killer/T-cell lymphoma without overt central nervous system involvementACTA NEUROPSYCHIATRICA, Issue 2 2009Tih-Shih Lee No abstract is available for this article. [source] Central nervous system involvement after herpes zoster ophthalmicusACTA OPHTHALMOLOGICA, Issue 7 2008Birgitte Haargaard Abstract. Purpose:, To report central nervous system involvement after varicella zoster virus infection. Methods:, We evaluated the frequency and type of neurological complications in patients initially presenting with ophthalmic herpes zoster at an ophthalmological department in a Danish university hospital, over a 7-year period. Results:, Of the 110 immunocompetent patients who presented with initial ophthalmic zoster, six (5.5%) suffered from neurological complications other than post-herpetic neuralgia. Four experienced isolated cranial motor nerve palsies, one patient had meningitis with a favourable outcome and one patient had severe encephalitis with a poor clinical outcome. Conclusions:, Central nervous system involvement after varicella zoster virus infection is an uncommon, but potentially life-threatening, complication. Early recognition of neurological complications prompts acute, appropriate antiviral treatment. [source] Cornelia de Lange syndrome, cohesin, and beyondCLINICAL GENETICS, Issue 4 2009J Liu Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. Cohesin controls faithful chromosome segregation during the mitotic and meiotic cell cycles. Multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double-strand DNA break repair and long-range regulation of transcription. Moreover, chromosome instability was recently associated with defective sister chromatid cohesion in several cancer studies, and an increasing number of human developmental disorders is being reported to result from disruption of this pathway. Here, we will discuss the human disorders caused by alterations of cohesin function (termed ,cohesinopathies'), with an emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS-related proteins. [source] | ||||||||||||||||||||||||||||