1/184. Chronic steadily progressive central and peripheral predominantly motor demyelination, involving the cranial nerves, responsive to immunoglobulins.The association of central and peripheral demyelination was reported previously. Most of the cases refer to central chronic relapsing demyelination with clinical criteria for multiple sclerosis associated with later signs of peripheral nerve involvement. Other authors, described central lesions in patients with chronic inflammatory demyelinating polyneuropathy and in guillain-barre syndrome, as a seldom occurrence. We report a patient in which a chronic steadily progressive central and peripheral predominantly motor nervous system demyelination, involving the cranial nerves, was identified. The patient improved after intravenous immunoglobulin suggesting an immune-mediated mechanism. To our knowledge this presentation was not described before.- - - - - - - - - - ranking = 1keywords = peripheral (Clic here for more details about this article) |
2/184. Progressive outer retinal necrosis syndrome as an early manifestation of human immunodeficiency virus infection.Progressive outer retinal necrosis syndrome is a recently recognized variant of necrotizing herpetic retinopathy, developing in patients with acquired immune deficiency syndrome (AIDS) or other conditions causing immune compromise. We report a case in which the diagnosis of retinal necrosis syndrome was made before the diagnosis of AIDS was confirmed. A 41-year-old man presented with a 1-month history of blurred vision in his left eye. Ophthalmologic examination revealed extensive retinal necrosis with total retinal detachment in his left eye and multifocal deep retinal lesions scattered in the posterior fundus as well as in the peripheral retina in his right eye. The serologic test for human immunodeficiency virus (hiv) was positive. Despite intravenous acyclovir treatment for 1 week, the lesions in the right eye showed rapid progression. High doses of intravitreal ganciclovir were then given in addition to intravenous acyclovir. After combined treatment for 1 month, the lesions became quiescent and the visual acuity improved to 20/30. Although the patient soon developed full-blown AIDS, the vision in his right eye remained undisturbed. physicians should suspect progressive outer retinal necrosis syndrome in any patient with rapidly progressive necrotizing retinopathy and test the patient for hiv infection. Aggressive combined antiviral agent therapy should be considered to save vision.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
3/184. Bilateral hemifacial spasm: a report of five cases and a literature review.We describe five patients with bilateral hemifacial spasm evaluated in a movement disorders Clinic to illustrate the clinical characteristics and to draw attention to the differential diagnosis of this condition. All patients had unilateral onset followed by bilateral, asymmetric, and asynchronous facial contractions. The mean age of the patients (4 women and 1 man) was 70.6 years (range, 54-81 yrs), and the mean duration of symptoms was 17 years (range, 2-30 yrs). The facial twitching started in the left eyelid in all cases and the opposite side of the face began to twitch on the average 8.4 years (range, 0.2-15 yrs) later. Imaging studies revealed tortuous vertebrobasilar arteries in three patients. Four patients were successfully treated with botulinum toxin injections. Bilateral hemifacial spasm is a rare, peripherally induced disorder that must be differentiated from tics, dystonia including blepharospasm and other cranial dystonia, and other facial dyskinesias. Botulinum toxin injection appears to be the treatment of choice.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
4/184. University of Miami Division of Clinical pharmacology Therapeutic Rounds: ischemic renal disease.Ischemic renal disease (IRD) is defined as a significant reduction in glomerular filtration rate and/or loss of renal parenchyma caused by hemodynamically significant renal artery stenosis. IRD is a common and often overlooked clinical entity that presents in the setting of extrarenal arteriosclerotic vascular disease in older individuals with azotemia. IRD is an important cause of chronic renal failure and end-stage renal disease (ESRD), and many patients with a presumed diagnosis of hypertensive nephrosclerosis may actually have undiagnosed ischemic nephropathy as the cause of their ESRD. The primary reason for establishing the diagnosis of IRD is the hope that correction of a renal artery stenosis will lead to improvement of renal function or a delay in progression to ESRD. There are six typical clinical settings in which the clinician could suspect IRD: acute renal failure caused by the treatment of hypertension, especially with angiotensin-converting enzyme inhibitors; progressive azotemia in a patient with known renovascular hypertension; acute pulmonary edema superimposed on poorly controlled hypertension and renal failure; progressive azotemia in an elderly patient with refractory or severe hypertension; progressive azotemia in an elderly patient with evidence of atherosclerotic disease; and unexplained progressive azotemia in an elderly patient. It is important for the clinician to identify IRD, because IRD represents a potentially reversible cause of chronic renal failure in a hypertensive patient.- - - - - - - - - - ranking = 0.18385974791377keywords = vascular disease (Clic here for more details about this article) |
5/184. Fas gene mutation in the progression of adult T cell leukemia.Fas antigen (Apo-1/CD95) is an apoptosis-signaling cell surface receptor belonging to the tumor necrosis factor receptor superfamily. adult T cell leukemia (ATL) cells express Fas antigen and show apoptosis after treatment with an anti-Fas monoclonal antibody. We established the ATL cell line KOB, which showed resistance to Fas-mediated apoptosis, and found that KOB expressed two forms of Fas mRNA, the normal form and a truncated form. The truncated transcript lacked 20 base pairs at exon 9, resulting in a frame shift and the generation of a premature stop codon at amino acid 239. The same mutation was detected in primary ascitic cells and peripheral blood cells. The mutation was not detected in lymph node cells, however, although all of the primary ATL cells were of the same clonal origin. A retroviral-mediated gene transfer of the truncated Fas to jurkat cells rendered the cells resistant to Fas-mediated apoptosis, suggesting a dominant negative interference mechanism. These results indicate that an ATL subclone acquires a Fas mutation in the lymph nodes, enabling the subclone to escape from apoptosis mediated by the Fas/Fas ligand system and proliferate in the body. mutation of the Fas gene may be one of the mechanisms underlying the progression of ATL.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
6/184. Clonal change of infiltrating T-cells in children with familial hemophagocytic lymphohistiocytosis: possible association with Epstein-Barr virus infection.BACKGROUND: Although familial hemophagocytic lymphohistiocytosis (FHL) has been considered a T-cell disorder, to the authors' knowledge there are no previous reports on the clonal basis of FHL. In the current study the authors analyzed the clonality of T-cells in two FHL patients at the time of disease onset and at disease progression. methods: Patient 1 had FHL and died of recurrent disease 4 months after bone marrow transplantation (BMT). His liver and spleen showed massive infiltrations of CD3 , CD4-, and CD8 T-cells. The Epstein-Barr virus (EBV) genome was detected by in situ hybridization. Patient 2 also had FHL and died of progressive disease 9 weeks after the onset of disease despite chemotherapy. A polymerase chain reaction (PCR) analysis showed positive EBV genome in the peripheral blood, liver, and spleen of Patient 2. In the two patients, T-cell receptor-beta and alpha-chain variable region (TCR Vbeta and V alpha) repertoires in peripheral mononuclear cells were analyzed at the time of disease onset and at disease progression by the inverse PCR method. When a high usage (> 15%) of a specific Vbeta family member was observed, a clonal analysis was performed by PCR using beta-chain joining region (Jbeta) primers. The clonality of specific Vbeta-Jbeta fragments was confirmed by a single strand confirmation polymorphism (SSCP) analysis. RESULTS: Although there was no preferential usage of Vbeta in Patient 1, the exclusive expression of Jbeta1.2 for Vbeta13 was observed. A high frequency of Vbeta13 also was observed at the time of disease progression, but the Jbeta fragment for Vbeta13 was polyclonal. In Patient 2, the restricted usage of Jbeta1.6 for Vbeta5a was observed at the time of disease onset, whereas Jbeta1.1 and 1.2 for Vbeta4 were observed exclusively at the time of disease progression. The clonality of Vbeta13-Jbeta1.2 in Patient 1 and Vbeta5a-Jbeta1.6 and Vbeta4-Jbeta1.1/Jbeta1.2 in Patient 2 was confirmed by SSCP analysis. CONCLUSIONS: These findings suggest that the polyclonal T-cell lymphoproliferative disease associated with EBV was induced after BMT in Patient 1, and that the clonal change of expanded T-cells also was induced by EBV in Patient 2. The clonal analysis of T-cells is a useful tool to clarify the pathogenesis of FHL.- - - - - - - - - - ranking = 0.28571428571429keywords = peripheral (Clic here for more details about this article) |
7/184. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant.Familial amyloidotic polyneuropathy is an inherited form of amyloidosis associated with a mutant form of a protein called transthyretin. The methionine-30 variant is the most frequent mutation observed. This disorder is caused by deposition of this protein as amyloid in several organs, such as the heart, kidneys, and peripheral nervous system. The disease is always progressive and fatal, and patients die 7 to 10 years after the onset of symptoms. liver transplantation is at present the only choice for these patients because it provides improvement of symptoms and/or stops progression of the disease in most patients. We report the case of a patient who showed clear progression of cardiomyopathy and neuropathy after liver transplantation.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
8/184. Reduction of end-stage malignant glioma by injection with autologous cytotoxic T lymphocytes.Autologous cytotoxic T lymphocytes (CTL) against primary-cultured malignant gliomas were generated from peripheral blood mononuclear cells in vitro in 4 patients. Activities of the CTL were highly specific to the corresponding autologous glioma and were inhibited, in one patient, with antibodies against CD3, CD8 and MHC-class I molecules. When the CTL were injected 3 times into the primary-tumor-resected cavity via an Ommaya tube, reduction of the recurrent tumors with magnetic resonance imaging (MRI)-measured volumes exceeding 45 cm3 was observed in 3 patients. In a patient with glioblastoma multiforme (GBM), the tumor volume (estimated, 130 cm3) was rapidly reduced to 1/3, although re-recurrence of the tumor followed 40 days later. A slight but distinct rapid reduction of the tumor volume was observed in another GBM patient and in an anaplastic astrocytoma patient; essentially no change was observed in a further GBM patient. These results suggest that adoptive immunotherapy with autologous CTL will be clinically effective against end-stage malignant gliomas.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
9/184. Progressive pulmonary vascular disease after pulmonary artery banding and total correction in a case of ventricular septal defect and pulmonary hypertension.A 7-month-old infant with ventricular septal defect and pulmonary hypertension underwent pulmonary artery banding, which resulted in a decrease in the pulmonary arterial peak pressure from 102 to 54 mmHg. lung biopsy findings showed at most an early grade 3 Heath-Edwards classification, and an index of pulmonary vascular disease of 1.4, both of which indicated operability for total correction. Small pulmonary arteries less than 100 microns in diameter, however, showed marked hydropic changes in the medial smooth muscle cells. Total correction was performed at the age of 2 years, but the pulmonary arterial pressure failed to decrease. A lung biopsy taken just after the closure of the ventricular septal defect contraindicated operability due to progressive pulmonary vascular disease at a grade 6 Heath-Edwards classification and an index of pulmonary vascular disease of 2.4. The patient died at 8 months after the operation, and an autopsy revealed still more advanced pulmonary vascular disease at a grade 6 Heath-Edwards classification and an index of pulmonary vascular disease of 2.8. The pathogenesis of arterial changes is discussed.- - - - - - - - - - ranking = 1.6547377312239keywords = vascular disease (Clic here for more details about this article) |
10/184. Protracted course of Krabbe disease in an adult patient bearing a novel mutation.BACKGROUND: Krabbe disease, or globoid cell leukodystrophy, is an autosomal recessive disorder caused by the deficiency of galactocerebrosidase (GALC) activity. Although most cases are diagnosed in infancy and show a fatal outcome in childhood, adult patients have been identified, showing progressive spastic hemiparesis to tetraparesis, followed by optic atrophy, dementia, and neuropathy. The disease can be diagnosed by detecting the deficiency of GALC activity (less than 5% of normal) in any available tissue sample. The cloning of the human GALC gene allowed the molecular characterization of newly diagnosed patients. More than 75 disease-causing mutations and polymorphisms in this gene have been identified. OBJECTIVE: To describe a 28-year-old woman with Krabbe disease, correlating clinical and biochemical abnormalities to a novel mutation on the GALC gene. methods: Clinical investigation was enriched by neurophysiological and neuroimaging data. The activity of GALC was assayed in white blood cells using radiolabeled natural substrate. Genomic dna was isolated from peripheral blood, and the GALC gene was sequenced. The mutated gene was expressed and GALC activity was measured in transfected COS-1 cells. RESULTS: The patient had progressive and bilateral amaurosis starting at 8 years of age. Although she was experiencing weakness in all her extremities, her intellect remained intact. She was found to be homozygous for a previously unreported missense mutation (T1886G), which leads to low, but not totally deficient, GALC activity. CONCLUSIONS: Expression of this mutation in COS-1 cells using the pcDNA3 expression vector (Invitrogen, Carlsbad, Calif) resulted in low, although not null, GALC activity, which can explain the protracted clinical course in this patient. patients carrying the mutation described herein might be potential candidates for therapeutic trials, such as bone marrow transplantation or gene therapy.- - - - - - - - - - ranking = 0.14285714285714keywords = peripheral (Clic here for more details about this article) |
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