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Stiff man syndrome (SMS), an uncommon neurological disease, is characterised by symmetrical muscle stiffness and spasms that often lead to skeletal deformity. Variants of the syndrome may involve one limb only (stiff leg syndrome), a variety of additional neurological symptoms and signs such as eye movement disturbances, ataxia, or Babinski signs (progressive encephalomyelitis with rigidity and myoclonus), or be associated with malignant disease (paraneoplastic SMS). Antineuronal autoimmunity and accompanying autoimmune diseases, most often insulin-dependent diabetes mellitus, are characteristic features of SMS and its variants. The condition is frequently misinterpreted as psychogenic movement disturbance, but electromyographic abnormalities and the presence of autoantibodies against glutamic acid decarboxylase (GAD) in both serum and cerebrospinal fluid help to establish the correct diagnosis. The aetiology of SMS is obscure. However, several features suggest that SMS is an autoimmune-mediated chronic encephalomyelitis. In line with this hypothesis, immunomodulation with a front-loaded methylprednisolone regimen reduces stiffness and spasms and improves other neurological symptoms in the majority of patients. Plasmapheresis or intravenous immunoglobulins are effective less frequently. For symptomatic treatment, the benzodiazepines are drugs of first choice. An alternative of last resort is baclofen administered intrathecally via an implanted pump device.
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PMID:Stiff man syndrome. 1151 Jun 22

Administration of general anesthesia is rarely accompanied with newly developed postoperative neurological complications. We analyzed postoperative complications after general anesthesia where an urgent neurologic assistance was necessary. The investigation included 120 patients. The same neurologist performed neurologic examination and electroencephalography, and computerized tomography (CT) was performed if necessary. In 96 (80%) patients focal stimulative or destructive phenomena such as epi-seizures or neurologic deficit were not detected by neurologic examination. In 9 (7.5%) patients were detected consciousness crisis. In 6 patients (5%) were registered right extremities weakness with motor dysphasia, which was withdrawn in first 24 hours. In these cases EEG revealed weak activity in theta frequency, above frontoparietal regions, bilaterally. In 6 (5%) patients was registered neurologic deficit of hemiparesis or semi-severe degree with development of ischemic lesion confirmed by CT. In 6 (5%) patients, CT scan revealed the presence of mild brain edema. Also, positive correlation between duration of anesthesia, age and metabolic disorders, specially diabetes mellitus, was found. We concluded that age, type of surgical intervention and duration of general anesthesia had the greatest influence on the development of neurologic disorders during and after general anesthesia, and the presence of metabolic disorders and previous brain damage increase the risk for the onset of these complications.
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PMID:[Neurologic manifestations after surgical interventions]. 1152 64

Finapres is a device able to continuously and non invasively measure arterial blood pressure by photoplethysmography in the finger. It can be used in various dynamic tests which involve cardiocirculatory adjustments, as a passive posture test ("tilt test") or an active orthostatic test (from squatting to standing position in the so-called squatting test). It represents a valuable help in the diagnosis of orthostatic hypotension (of endogenous or iatrogenic origin), of autonomic neuropathy (secondary to diabetes mellitus or to a neurological disease) or of vasovagal syncope. All these conditions are characterized by a defect of arterial and venous vasoconstriction and by an insufficient reflex tachycardia because of autonomic dysfunction.
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PMID:[Finapres, efficient technique in the assessment of orthostatic hypotension, autonomic neuropathy, and vaso-vagal syncope]. 1158 44

One hypothesis that couples infection with autoimmune disease is molecular mimicry. Molecular mimicry is characterized by an immune response to an environmental agent that cross-reacts with a host antigen, resulting in disease. This hypothesis has been implicated in the pathogenesis of diabetes, lupus and multiple sclerosis (MS). There is limited direct evidence linking causative agents with pathogenic immune reactions in these diseases. Our study establishes a clear link between viral infection, autoimmunity and neurological disease in humans. As a model for molecular mimicry, we studied patients with human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP), a disease that can be indistinguishable from MS (refs. 5,6,7). HAM/TSP patients develop antibodies to neurons. We hypothesized these antibodies would identify a central nervous system (CNS) autoantigen. Immunoglobulin G isolated from HAM/TSP patients identified heterogeneous nuclear ribonuclear protein-A1 (hnRNP-A1) as the autoantigen. Antibodies to hnRNP-A1 cross-reacted with HTLV-1-tax, the immune response to which is associated with HAM/TSP (refs. 5,9). Immunoglobulin G specifically stained human Betz cells, whose axons are preferentially damaged. Infusion of autoantibodies in brain sections inhibited neuronal firing, indicative of their pathogenic nature. These data demonstrate the importance of molecular mimicry between an infecting agent and hnRNP-A1 in autoimmune disease of the CNS.
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PMID:Autoimmunity due to molecular mimicry as a cause of neurological disease. 1198 86

An update on clinical aspects of HIV in africa highlights new proposed clinical definitions of adult AIDS and of tuberculosis in HIV+ adults, and staging of adult HIV infection. The 1986 WHO clinical definition of AIDS has been widely used in Africa, but now research suggests that this definition has several limitations: the definition will pick up several unrelated diseases such as diabetes mellitus and renal failure. It does not ascertain cases of AIDS marked by nonopportunistic infections. Most persons with pulmonary tuberculosis may be wrongly diagnosed with AIDS by this definition. The study showed that the WHO clinical definition has good specificity and positive predictive value for HIV+ people, but its positive predictive value fell to 30% in identifying people with AIDS in Africa. New definitions should take into account any serious morbidity, tuberculosis, neurological disease, both endemic localized Kaposi's, and aggressive typical Kaposi's sarcoma, and HIV serological testing. Tuberculosis is a problem because few HIV+ people suspected of having pulmonary TB (sputum-negative TB) actually have it based on bronchoscopy, while HIV+ persons with TB experience high mortality, often from pyogenic bacteremia. HIV+ persons with TB suffer high rates of relapse, possibly related to insufficient drug treatment or reinfection. 1 study showed that 6 months of isoniazid significantly improved incidence of TB over 30 months of follow-up. Staging of AIDS in Africa based on degree of immunosuppression was proposed as: 1) clinically inapparent HIV infection marked by pulmonary TB, soft tissue infections, and community acquired pneumonia; 2) lymphadenopathy, oral thrush, widespread pruritic maculopapular rash, herpes zoster, enteric illness, dysentery, and Kaposi's sarcoma; and 3) HIV wasting syndrome, chronic pulmonary disease, meningitis, and fever of unknown origin.
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PMID:Some clinical aspects of HIV infection in Africa. 1231 68

This review article examines the ophthalmic literature published on cataracts and systemic disease during the past year. Epidemiologically, the association between alcohol consumption and lens opacification is reviewed. Cataracts continue to be strongly associated with systemic diseases such as diabetes mellitus. Clinical, basic science reports and the results of the Blue Mountains Eye Study group on the morphology of diabetes-related cataracts are presented. Patients with neurologic disorders such as Wilson disease may first present with decreased vision and cataracts. Cataracts are now associated with syndromes such as Cohen syndrome, Degos disease, and Dubowitz syndrome. A recent study suggests earlier mortality in middle-age patients undergoing cataract surgery.
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PMID:Cataracts associated with systemic disorders and syndromes. 1244 47

Stearoyl-CoA desaturase (SCD) (EC 1.14.99.5) is an endoplasmic reticulum-bound enzyme that catalyzes the delta9-cis desaturation of saturated fatty acyl-CoAs, the preferred substrates being palmitoyl- and stearoyl-CoA, which are converted to palmitoleoyl- and oleoyl-CoA, respectively. These monounsaturated fatty acids are used as substrates for the synthesis of triglycerides, wax esters, cholesteryl esters and membrane phospholipids. The saturated to monounsaturated fatty acid ratio affects membrane phospholipid composition and alteration in this ratio has been implicated in a variety of disease states including cardiovascular disease, obesity, diabetes, neurological disease, skin disorders and cancer. Thus, the expression of SCD is of physiological importance in normal and disease states. Several mammalian SCD genes have been cloned. A single human, three mouse and two rat are the best characterized SCD genes. The physiological role of each SCD isoform and the reason for having three or more SCD gene isoforms in the rodent genome are currently unknown. A clue as to the physiological role of the SCD, at least SCD1 gene and its endogenous products came from recent studies of asebia mouse strains that have a natural mutation in the SCD1 gene and a mouse model with a targeted disruption of the SCD1 gene. In this review we discuss our current understanding of the physiological role of SCD in lipid synthesis and metabolism.
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PMID:Role of stearoyl-coenzyme A desaturase in lipid metabolism. 1253 75

Ceruloplasmin, a multi-copper ferroxidase that affects the distribution of tissue iron, has antioxidant effects through the oxidation of ferrous iron to ferric iron. Aceruloplasminemia is an inherited disorder of iron metabolism due to the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. It is characterized by iron accumulation in the brain as well as visceral organs. Clinically, the disease consists of the triad of retinal degeneration, diabetes mellitus, and neurological disease, which include ataxia, involuntary movements, and dementia. These symptoms reflect the sites of iron deposition. The unique involvement of the central nervous system distinguishes aceruloplasminemia from other inherited and acquired iron storage disorders. Twenty-one mutations in the ceruloplasmin gene have been reported in 24 families worldwide. In Japan, the incidence was estimated to be approximately one per 2,000,000 in the case of non-consanguineous marriages. Excess iron functions as a potent catalyst of biologic oxidation. Previously we showed that an increased iron concentration is associated with increased levels of lipid peroxidation in the serum, cerebrospinal fluid, and erythrocyte membranes. The levels of malondialdehyde and 4-hydroxynonenals, indicators of lipid peroxidation, were also elevated in the basal ganglia and cerebral cortex. Positron emission tomography showed diminished brain metabolism of glucose and oxygen. Enzyme activities in the mitochondrial respiratory chain of the basal ganglia were reduced to approximate 45% and 42%, respectively, for complexes I and IV. These findings suggest that iron-mediated free radicals causes neuronal cell damage through lipid peroxidation and mitochondrial dysfunction in aceruloplasminemia brains.
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PMID:Aceruloplasminemia, an inherited disorder of iron metabolism. 1257 80

Mortality after coronary-artery bypass surgery (CABS) has fallen steadily over recent years. Concern remains, however, about the effect of this surgery on the brain. The problem of brain damage after CABS is multifactorial, involving microembolism, disturbed perfusion, metabolic derangement, and inflammatory responses. Microemboli numbers have been linked to the likelihood of neuropsychological deterioration after surgery. Risk factors for cerebral changes after CABS include older age, gender, neurological disease, diabetes, and calcification of the aorta. These risk factors are important because, in comparison with the early 1990s, patients undergoing CABS are now older and tend to have a greater number of comorbid conditions. Changes in surgical technique, such as the introduction of arterial-line filters and membrane oxygenators, have led to a reduction of both microemboli and neuropsychological disturbance. However, the problem persists, prompting further studies on surgical technique and neuroprotective strategies.
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PMID:Coronary-artery bypass surgery and the brain: persisting concerns. 1284 16

Stem cells are widely believed to have significant potential in the treatment of human disease. Comments such as '[stem cells]...could prove the Holy Grail in finding treatments for cancer, Parkinson's disease, diabetes, osteoporosis, spinal cord injuries, Alzheimer's disease, leukaemia and multiple sclerosis...transform[ing] the lives of hundreds of thousands of people' (Yvette Cooper, Public Health minister, quoted in The Times, December 16 2000, authors' italics) serve to reinforce the extraordinary expectations of stem cells, particularly in neurological disease. Stem cells, traditionally defined as clone forming, self-renewing, pluripotent, progenitor cells, have already proved themselves to be an invaluable source of transplantation material in several clinical settings, most notably malignant haematology, and attention is now turning to a wider variety of diseases in which there may be potential for therapeutic intervention with stem cell transplantation. Neurological diseases have been highlighted as a priority and this is understandable given their unenviable reputation for relentless progression and the paucity of disease-modifying treatments. However, it is important that the potential of stem cells to treat neurological disease is critically appraised if the hopes of patients and doctors are not to be raised without foundation.
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PMID:Stem cells for the treatment of neurological disease. 1465 41


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