Gene/Protein Disease Symptom Drug Enzyme Compound
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 28,634 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 110 patients underwent diagnostic evaluation for attacks of uncertain origin by means of video-EEG telemetry and had a diagnosis of pseudoseizures confirmed. Eighty-six patients (78%) were female, mean age of onset 25 years, and mean duration of attacks was 3 years. Many of the patients had erroneously been thought to be suffering from epilepsy. The attacks could be divided into two broad categories: attacks of collapse (one-third) and attacks with prominent motor activity (two-thirds). In some patients, the attacks were associated with incontinence and injury. The differential diagnosis and clinical features of the attacks are described. Additional psychiatric features were present in 52 (47%) patients. Follow-up (for a median 5 years; range, 1 to 14 years) showed that 40% of these patients stopped having pseudoseizures. This favorable outcome was associated with being female, leading an independent life, a formal psychological approach to therapy and counseling, and the absence of coexisting epilepsy, but not with the duration of pseudoepilepsy, prior episodes of pseudostatus, the coexistence of overt psychiatric disease, or the clinical features of the attacks.
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PMID:The clinical features and prognosis of pseudoseizures diagnosed using video-EEG telemetry. 192 8

The syndrome of syringomyelia in children has been extensively described in the literature and is said to most commonly involve the cervical and thoracic spinal cord. We here present two children who had an unusual constellation of signs and symptoms, characterized by bowel and bladder disturbance in one, and in the other with intermittent paroxysmal severe pain and cramping and flexion of the lower extremities accompanied at times by episodes of incontinence. Both were found on magnetic resonance imaging (MRI) to have a syrinx localized to the most distal cord. This was not associated with Arnold-Chiari malformation, trauma, tumors or any other form of spinal dysraphism. Both patients underwent placement of a syringomyelia-peritoneal shunt with complete resolution of symptomatology. Postoperative MRI revealed a complete collapse of the syringomyelia cavity. In those children presenting with bowel or bladder disturbances, associated or not with intermittent pain, flexion attacks, or cramping in the lower extremities, the differential diagnosis of a syringomyelia of the distal cord should be part of the clinical considerations.
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PMID:Syringomyelia of the distal spinal cord in children. 754 56

Age-related changes, for example reduced elasticity and earlier airways collapse, predispose the elderly to respiratory infection. Other factors such as a lifetime of smoking, the use of hypnotics, or the development of stroke also predispose. Pneumonia becomes increasingly common with advancing age, and both morbidity and mortality increase with associated disease burden. Diagnosis of pneumonia may be more difficult in the aged because of physiological changes. However, careful physical examination with accurate, regular recording of body temperature will usually reveal the characteristic features of pneumonia, which should be confirmed by chest radiograph. In the frail elderly, the onset of impaired function, such as confusion, immobility, falling or incontinence, should raise suspicion of infection. Pneumonia is classified as community-acquired, nursing home-acquired or nosocomial, which helps in the empirical choice of antibiotics. Streptococcus pneumoniae is the most common organism in the community, then Haemophilus influenzae and Branhamella catarrhalis. Gram-negative organisms like Klebsiella and Escherichia coli are more common in nosocomial infections. Nursing home patients with pneumonia tend to be more frail than those in the community. Treatment is directed at eradication of the organism with the appropriate antibiotic, maintaining hydration and oxygenation, as well as managing impaired mobility, faecal loading, urinary incontinence and confusion. Influenza vaccination is strongly recommended for the frail elderly. Tuberculosis remains an important diagnosis in the frail elderly and should always be considered, especially in patients with respiratory infection who fail to respond to conventional therapy.
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PMID:Treatment recommendations for respiratory tract infections associated with aging. 845 84

Wolfram syndrome was originally described as a combination of familial juvenile-onset diabetes mellitus and optic atrophy. Other neurological features subsequently emerged, and "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) became a commonly accepted acronym. Here, we describe 4 further cases from 2 families, in whom there occurred previously unrecognized neurological features, central apnea and neurogenic upper airway collapse, together precipitating primary respiratory failure (fatal in 1 case), startle myoclonus (in 2 unrelated cases), axial rigidity, and Parinaud's syndrome. Magnetic resonance images revealed striking brainstem atrophy affecting, in particular, the pons and midbrain. The mitochondrial DNA from 3 cases (and relatives) showed no evidence of any of the previously reported abnormalities. These neurological and neuroradiological features, in conjunction with (1) analyses showing the neurodegenerative origin of optic atrophy, deafness, diabetes insipidus, and incontinence, (2) other previously reported neurological complications (including anosmia, ataxia, epilepsy, and neuropsychiatric and cognitive abnormalities), and (3) the very small number of published postmortem studies, indicate that Wolfram syndrome should be reemphasized as a unique hereditary neurodegenerative disorder with prominent optic atrophy and diabetes mellitus.
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PMID:Wolfram syndrome: hereditary diabetes mellitus with brainstem and optic atrophy. 860 54

The spread of fluid from a localized source on to a flat fibrous sheet is studied. The sheet is inclined at an angle, alpha, to the horizontal, and the areal flux of the fluid released is Qa. A new experimental study is described where the dimensions of the wetted region are measured as a function of time t, Qa and alpha (>0). The down-slope length, Y, grows according to Y approximately (Qa t)(2/3) (sin alpha)(1/3); for high discharge rates and low angles of inclination, the cross-slope width, X, grows as approximately (Qa t)(1/2), while for low discharge rates or high angles of inclination, the cross-slope transport is dominated by infiltration and X approximately 2(2Ks psi* t)(1/2), where Ks is the saturated permeability and psi* is the characteristic value of capillary pressure. A scaling analysis of the underlying non-linear advection diffusion equation describing the infiltration process confirms many of the salient features of the flow observed. Good agreement is observed between the collapse of the numerical solutions and experimental results. The broader implications of these results for incontinence bed-pad research are briefly discussed.
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PMID:Experimental and theoretical study of the spread of fluid from a point source on an inclined incontinence bed-pad. 1288 96

Metastatic spinal cord compression, diagnosed in 3-7% of cancer patients, is one of the most dreaded complications of metastatic cancer. It is an oncologic emergency, which must be diagnosed early and treated promptly to achieve the best results and avoid progressive pain, paralysis, sensory loss and sphincter incontinence. Patients who are ambulatory at the time of the diagnosis have a higher probability of obtaining good response to treatment and a longer survival. In clinical practice, back pain accompanies metastatic spinal cord compression in most cases, even in patients with no neurologic deficits. Magnetic resonance imaging is the best tool for diagnosing metastatic spinal cord compression and is able to identify spinal cord compression in 32-35% patients with back pain, bone metastases and normal neurologic examination. Moreover, magnetic resonance imaging gives the extension of the lesion, can diagnose other unsuspected clinical metastatic spinal cord compression sites, and is useful for the radiation oncologist in defining the target volume. Radiotherapy is the treatment of choice in most cases, whereas surgery is advised only in selected patients (ie, if stabilization is necessary, if radiotherapy has already been given in the same area, when vertebral body collapse causes bone impingement on the cord or nerve roots, when there are diagnostic doubts, or when computed tomography-guided percutaneous vertebral biopsy cannot be performed). Laminectomy should be abandoned in favor of more aggressive surgery (ie, posterior, anterior, and/or lateral approach, tumor mass resection, and stabilization of the spine). Generally, radiotherapy must be administered 7-10 days after surgery. The optimal radiation schedule has not been defined. However, as recently suggested by some clinical trials, even the hypofractionated radiotherapy regimens are effective and can be used without increasing radiation-induced myelopathy. Moderate doses of dexamethasone should be used in the early phases of therapy. After radiotherapy, spinal recurrence is generally found in sites different from the first compression area. A close post-treatment follow-up is suggested using clinical parameters (pain, motor and sphincter function), and magnetic resonance imaging should be performed only when a second metastatic spinal cord compression and/or myelopathy are clinically suspected.
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PMID:Management of metastatic spinal cord compression. 1487 Jul 66

The authors describe an 82-year-old female with a right frontal ventriculoperitoneal (VP) shunt for long-standing normal pressure hydrocephalus (NPH) who presented with worsening incontinence and gait instability. She was found to have right lateral ventricle collapse around the shunt catheter and subsequently underwent shunt revision, which failed to improve her symptoms. Magnetic resonance imaging (MRI) was obtained on postoperative day two, which demonstrated a ventricular lesion. Endoscopic brain biopsy was performed and a diagnosis of primary central nervous system lymphoma (PCNSL) was made. The authors believe this is the first published case of PCNSL presenting as a VP shunt complication in a patient with NPH.
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PMID:A case of primary central nervous system lymphoma presenting as a shunt complication. 3216 43