Gene/Protein Disease Symptom Drug Enzyme Compound
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 172,036 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Advances in phacoemulsification and self-sealing wound construction have made topical anesthesia an effective and reliable method of obtaining ocular anesthesia. It has many advantages over the traditional retrobulbar or peribulbar technique. I have performed more than 1800 cases of phacoemulsification and posterior chamber intraocular lens implantation through a 3 mm, self-sealing, corneal tunnel incision with topical anesthesia and the use of the Bloomberg SuperNumb Anesthetic Ring. This article presents the procedure. Results show the benefits of topical anesthesia and the anesthetic ring, including elimination of the risks of globe penetration, retrobulbar hemorrhage, respiratory depression, intradural or subarachnoid injection, ptosis, and diplopia, as well as instant return of vision.
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PMID:Topical anesthesia using the Bloomberg SuperNumb Anesthetic Ring. 772 92

Adult-onset myasthenia gravis is an acquired autoimmune disorder of neuromuscular transmission in which acetylcholine receptor antibodies attack the postsynaptic membrane of the neuromuscular junction. Although the cause of this disease is unknown, the role of immune responses in its pathogenesis is well established. Circulating acetylcholine receptor antibodies are present in 80% to 90% of patients with the generalized form of myasthenia gravis. Most patients have ptosis, diplopia, dysarthria and dysphagia. The weakness and fatigue worsen on exertion and improve with rest. Respiratory muscle and limb weakness are rare at the onset of the disease. For the past two decades, there has been considerable progress in understanding the diagnosis and management of myasthenia gravis. The diagnosis is based on clinical presentation, neurologic examination, and confirmation by means of electrophysiologic testing and immunologic studies. Myasthenia gravis mimics many neuromuscular diseases and even illnesses such as depression and chronic fatigue syndrome. One should always exclude drug-induced myasthenia gravis for all patients. With the introduction of new modalities of treatment, particularly immunosuppressive or immunomodulating drugs, plasma exchange and thymectomy, the morbidity and mortality of myasthenia gravis have decreased dramatically to the point that myasthenia gravis should not be considered as serious a disease as it once was. Although the several therapeutic options are usually effective and have meant independence in daily life to many patients with myasthenia gravis, well-designed, controlled, prospective studies are still lacking.
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PMID:Myasthenia gravis. 911 87

A 50 year-old woman presented in January of 1995 with a prolonged history of symptoms of multiple sclerosis (MS) and was classified at the time with a remitting-progressive course. Her chief symptoms included slurring of speech, impairment of vision with intermittent diplopia, difficulties with gait and balance with spastic-ataxic gait, mental depression, insomnia, fatigue, impaired cognitive functions notably poor short term memory and recurrent urinary tract and sinus infections. An MRI scan showed multiple nodular demyelinating lesions scattered in the subcortical white matter and periventricularly of both cerebral hemispheres. Over the following 18 months, while receiving three treatment sessions per week with picotesla electro-magnetic fields (EMFs) which were applied extracranially, she showed a significant recovery in both physical and mental symptoms and additionally experienced decreased susceptibility to infections. In addition, the course of her disease appeared to have stabilized as opposed to the preceding 5 years during which time she experienced insidious, steady deterioration in her functioning. Despite this remarkable clinical recovery through the application of EMFs, and MRI scan obtained at the same diagnostic center 18 months after initiation of treatment with EMFs showed no changes in the number and size of the demyelinating plaques. These findings demonstrate lack of a correlation between recovery of symptoms and the number and extent of demyelinating plaques on MRI scan. It has been known since the days of Charcot in the latter half of the 19th century that in MS there is a great disparity between the histopathological changes of the disease and neurologic deficits. This report enhances the notion that demyelination may reflect an epiphenomenon of the disease.
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PMID:Lack of a correlation between demyelinating plaques on MRI scan and clinical recovery in multiple sclerosis by treatment with electromagnetic fields. 913 46

Japanese encephalitis (JE) vaccine has been used for childhood immunization programmes in Asia since the 1960s. Also, travellers from other parts of the world have been vaccinated before travelling to Asian countries. Some JE vaccines are produced from infected mouse brains and contain small amounts of myelin basic protein. Neurological side effects in larger vaccine trials in Asia have been reported in 1-2.3 per million vaccinees. Statens Serum Institut is the only distributor of JE vaccine in Denmark, delivering 384 000 doses from 1983-96. In 1996, evaluation of initial symptoms and findings in 10 adult travellers from Denmark, who developed moderate-severe neurological symptoms within a few weeks of JE vaccination, was performed as well as follow-up magnetic resonance imaging (MRI) and clinical neurological examination. Three patients initially had symptoms varying from severe encephalitis-like illness to paraesthesia, double vision or parkinsonian gait disturbance. MRI showed severe atrophy of the corpus callosum with altered signal intensity indicating gliosis in one patient, another patient had several hyperintense spots located periventricularly in the white matter, while a third patient had spots with increased signals in the pons, the right substantia nigra and the occipital region. Acute disseminated encephalomyelitis (ADEM) is a possible explanation for these MRI changes, although multiple sclerosis is an alternative diagnosis in one or two of the patients. Another three patients had long-lasting headache, concentration difficulty or intellectual reduction. One man had afebrile convulsions, another gait instability and depression and one parkinsonism. A woman developed myelitis. If these findings are due to JE vaccination the frequency of neurological reactions to the vaccine is considerably higher than previously reported and in the future any minor neurological complaints occurring shortly after vaccination should lead to neurological examination and acute MRI scan should be considered. Copyright 1998 Lippincott Williams & Wilkins
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PMID:Neurological complications to vaccination against Japanese encephalitis. 1021 Aug 77

There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.
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PMID:Cerebellar Ataxia. 1109 49

Lymphocytic hypophysitis (LYH) is an uncommon autoimmune disease in which the pituitary gland is infiltrated by lymphocytes, plasma cells and macrophages and its function is usually impaired. It has to be suspected in pregnant women and in women with recent delivery presenting with hyperprolactinemia, headache, visual field alterations and changes of one or more pituitary hormone secretions with secondary impairment of related peripheral target glands, especially when associated with other autoimmune endocrine or non-endocrine disorders. It can also occur less frequently in prepubertal or post-menopausal women and in men. Headache, visual field impairment and more rarely diplopia are due to extrasellar pituitary enlargement with optic chiasma compression and/or to invasion of cavernous sinuses. Among the 'isolated' pituitary hormone deficiencies, ACTH deficit is usually the earliest and most frequent hormonal impairment and in rare cases can induce an acute secondary hyposurrenalism as the first sign of the disease, with high mortality in affected patients. Histopathological findings from pituitary biopsy show lymphoplasmacytic infiltrate with lymphoid aggregates surrounding atropic acini of pituitary cells; immunohistochemical analysis shows numerous mast cells randomly distributed and also localized in the vicinity of capillaries, suggesting a possible influence on capillary permeability and angiogenesis, thus favoring the inflammatory and immunological aggression against pituitary cells. Nuclear magnetic resonance imaging shows uniform sellar floor depression and an extrasellar symmetrical pituitary enlargement, usually displacing the optic chiasma, which shows a rapid homogeneous enhancement after gadolinium also involving the adjacent dura (dural tail). Antipituitary antibodies have been detected in several patients with LYH but their role needs to be clarified. Since a possible spontaneous remission can occur, a careful follow-up is required in subclinical patients without important hyposurrenalism or symptomatic extrasellar expansion. Medical (immunosuppressive, replacement and antiprolactinemic) and neurosurgical (decompression) treatments are needed in clinical symptomatic patients.
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PMID:Lymphocytic hypophysitis: a rare or underestimated disease? 1458 81

We report two cases of paraneoplastic limbic encephalitis (PLE) that differed in their clinical patterns, the underlying tumours, and the associated paraneoplastic antibodies. The first patient was a young adult male, with anti-MA-2 antibodies and testicular tumour. The clinical picture was restricted to limbic involvement. The second patient was a 56-year old, female heavy smoker; with seizures and depression, but also vertigo and diplopia. A low level of serum anti-Hu antibodies led to the detection of a small cell lung carcinoma by total body PET-scanning. In both cases, intrathecal synthesis of CSF oligoclonal IgG bands and of the corresponding paraneoplastic antibodies was demonstrated.
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PMID:Paraneoplastic limbic encephalitis: diagnostic relevance of CSF analysis and total body PET scanning. 1550 68

A 34-year-old male with a long-standing history of polysubstance abuse and depression was admitted for acute renal failure and hemodialysis secondary to ethylene glycol ingestion that occurred two days prior. The patient was admitted with documented ethylene glycol levels of 41.2 mg/dl, which fell to 25.0 mg/dl after 8 hours and to 6 mg/dl after 12 hours. One week later the patient presented to the outpatient eye clinic complaining of headaches and diplopia. On exam, vision in both eyes was 20/20. No afferent papillary defect was present. The patient had a left abducens palsy. The remainder of the anterior segment exam was normal. On dilated fundus exam the patient was found to have 3+ disc edema with hemorrhages in both eyes. A lumbar puncture revealed elevated intracranial pressure. In our opinion, the patient developed a left abducens nerve palsy and bilateral disc edema secondary to a transient rise in intracranial pressure after ingestion of ethylene glycol.
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PMID:Papilledema and abducens nerve palsy following ethylene glycol ingestion. 1559 May 39

Isolated angiitis of the central nervous system (IACNS) is a rare form of angiitis limited to the central nervous system. The clinical finding of the combined series revealed that headache was the most common symptom within a combination of focal and diffuse neurological deficits. The case, a 28-year-old man, is presented; the clinical presentation and diagnostic difficulties are discussed. The patient's symptoms began with an obvious atypical depression. In spite of an antidepressive treatment, his symptoms continued to worsen with personality, mood changes and euphoria added to the clinical picture. Meanwhile after several transient ischemic attacks, 6 months later, he was admitted with neurological symptoms including headache, diplopia, and cerebellar ataxia. The radiological investigation was mimicked by primary brain lymphoma. The brain biopsy excluding of lymphoma revealed parenchymal hemorrhage with nonspecific degenerative changes. In systemic investigation, no underlying cause for vasculitis could be found. Neurological but not psychological deficits and radiological lesions of the patient improved with steroid therapy. Since we could not find features of systemic vasculitis, the patient's lesions responded to corticosteroid treatment and neuropathological investigation revealed no lymphoma, We concluded that the most probable diagnosis would be IACNS.
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PMID:Isolated angiitis of the central nervous system: a case presented with atypical psychiatric symptoms. 1586 68

This review describes a group of diseases known as the transmissible spongiform encephalopathies (TSEs), which affect animals and humans. Examination of affected brain tissue suggests that these diseases are caused by the acquisition and deposition of prion protein (PrP). Creutzfeldt-Jakob disease (CJD) is the most important form of TSE in humans with at least four different varieties of the disease. Variant CJD (vCJD), a new form of the disease found in the UK, has several features that differ from the classical forms including early age of onset, longer duration of disease, psychiatric presentation (for example, depression) and extensive florid plaque development in the brain. About 10 per cent of patients with CJD exhibit visual symptoms at disease presentation and approximately 50 per cent during the course of the disease. The most commonly reported visual symptoms include diplopia, supranuclear palsies, complex visual disturbances, homonymous visual field defects, hallucinations and cortical blindness. Saccadic and smooth pursuit movements appear to be more rarely affected. The agent causing vCJD accumulates in lymphoid tissue such as the spleen and tonsils. The cornea has lymphoid tissue in the form of corneal dendritic cells that are important in the regulation of the immune response in the anterior segment of the eye. The presence of these cells in the cornea has raised the possibility of transmission between patients via optical devices that contact the eye. Although such transmission is theoretically possible it remains highly improbable.
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PMID:Creutzfeldt-Jakob disease and vision. 1643 Apr 33


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