Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We assessed health-related quality of life (QoL) of patients with progressive supranuclear palsy (PSP), identified the most important QoL issues in patients with this disorder, and assessed the usefulness of existing QoL measures in patients with PSP. Twenty-seven patients in all stages of PSP and their carers underwent a semistructured in-depth interview on the impact of PSP and a neurological examination. They were also asked to complete existing measures of QoL and depression. An item-pool of issues relevant to QoL of patients with PSP was created from the patient and carer interviews. Carers and patients largely agreed on issues relevant for patients' QoL but more carers than patients considered symptoms of frontal lobe dysfunction as problematic for the patients. There was no association of QoL with age and gender, as assessed in interviews and on two QoL instruments. QoL deteriorated with increasing disease duration and severity and greater cognitive impairment and was associated with worse depression scores. While the generic SF-36 was not found to be useful to assess QoL in PSP, feasibility and validity for the PDQ-39 and the EQ-5D were acceptable in this study. However, additional issues relevant to patients with PSP that were not addressed in these instruments included visual disturbances, dysarthria, dysphagia, muddled thinking, confusion, and apathy. The generic EQ-5D and the Parkinson's disease-specific PDQ-39 are useful instruments to assess QoL in patients with PSP. However, they lack questions on important aspects of QoL in PSP that were reported by patients and carers in semistructured interviews. The item pool created in these interviews provides the basis for the development of disease-specific QoL instruments for patients with PSP.
 ...
PMID:Health-related quality of life in patients with progressive supranuclear palsy. 1467 83

We have observed an increasing number of autopsies on patients with chemotherapy-related complications. One complication is toxic leukoencephalopathy, which is due to a direct toxic effect of chemotherapeutic agents on the central nervous system white matter. Autopsies of four cases of toxic leukoencephalopathy were performed following standard protocols. The brain and spinal cord were examined routinely, and histological sections were taken for evaluation. We report here three patients with hematologic malignancies and one patient with metastatic carcinoma with chemotherapy-induced leukoencephalopathy. The first was a 56-year-old male treated with multiple chemotherapeutics for multiple myeloma. He presented with confusion and focal seizures with a rapid progression to coma and decerebrate posturing. The second was a 36-year-old male who developed mental status changes, ataxia and dysarthria following treatment for lymphoma. The third was a 16-year-old male who developed a profound peripheral and central neuropathy after chemotherapy treatment for T-cell acute lymphoblastic leukemia. The fourth was a 49-year-old female patient who was treated with multiple chemotherapeutics for Stage II breast carcinoma and subsequently developed visual acuity and field defects. The neuropathologic findings in these cases, although similar, varied in severity and distribution. The white matter was affected by severe myelin pallor, edema, and a prominent macrophage infiltrate in each of the cases. The location and extent of the central nervous system pathology correlated with the type and severity of clinical symptoms. These four cases, with their varied presenting symptoms, clinical courses, and degree of pathology, emphasize the importance of considering toxic leukoencephalopathy as an etiology of acute neurologic deterioration following high-dose chemotherapy.
 ...
PMID:Chemotherapy-induced toxic leukoencephalopathy causes a wide range of symptoms: a series of four autopsies. 1470 18

This study investigated the perception of three Cantonese level tones produced by speakers with dysarthria associated with cerebral palsy. Four speakers with dysarthria were selected on the basis of their distinctive patterns of fundamental frequency (F0) values observed in the level tones they produced, which showed errors in either F0 level or, F0 contour, or both. Monosyllabic words which contrasted in tone level were used as stimuli in an identification task. Five expert listeners identified the tones among the six Cantonese contrastive tones. Results showed that the tones produced by the dysarthric speakers were predominantly perceived as level tones; although a majority was perceived as the wrong level tone. The most important finding is that only the level tones produced by dysarthric speakers could be identified as rising or falling contour tones. The frequent perceptual confusion among the level tones, and the perception of contour tones, shows that a disorder in the production of pitch-based linguistic contrasts can have a substantial impact on the communication abilities of individuals with cerebral palsy.
 ...
PMID:The impact of cerebral palsy on the intelligibility of pitch-based linguistic contrasts. 1559 76

Biotin-responsive basal ganglia disease (BBGD) is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe cogwheel rigidity, dystonia, quadriparesis, and eventual death, if left untreated. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). On brain magnetic resonance imaging examination, patients display central bilateral necrosis in the head of the caudate, with complete or partial involvement of the putamen. All patients diagnosed to date are of Saudi, Syrian, or Yemeni ancestry, and all have consanguineous parents. Using linkage analysis in four families, we mapped the genetic defect near marker D2S2158 in 2q36.3 (LOD=5.9; theta=0.0) to a minimum candidate region (approximately 2 Mb) between D2S2354 and D2S1256, on the basis of complete homozygosity. In this segment, each family displayed one of two different missense mutations that altered the coding sequence of SLC19A3, the gene for a transporter related to the reduced-folate (encoded by SLC19A1) and thiamin (encoded by SLC19A2) transporters.
 ...
PMID:Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 1587 Nov 39

As onset time and duration of sensory block are intermediate, mepivacaine is widely used for regional anaesthesia. Few reports of systemic adverse effects are available following nerve blockade with mepivacaine. We report the case of a 54-year-old patient suffering from terminal renal failure who needs the confection of an arteriovenous shunt under axillary brachial plexus block. At completion of the injection of 25 ml (375 mg) of 1.5% mepivacaine the patient presented dysarthria, mental confusion followed by a loss of verbal contact and agitation, but no convulsion or cardiac dysrythmia. The patient received midazolam and surgery was planned the following day under general anaesthesia. Plasma mepivacaine concentration at time of neurological signs was measured at 5.1 microg/ml. Prevention and treatment of systemic toxic effects after regional anaesthesia are discussed.
 ...
PMID:[Systemic toxicity with mepivacaine following axillary block in a patient with terminal kidney failure]. 1625 73

Various infective complications associated with dialysis catheter infection have been reported in the literature previously. We report a case of a hemodialysis patient presented with confusion and dysarthria secondary to Staphylococcus aureus septicemia and meningitis originating from a tunneled catheter used for providing dialysis. Blood cultures from the periphery, central venous catheter and culture of the line tip grew methicillin-sensitive Staphylococcus aureus. Lumbar puncture after CT brain confirmed Staphylococcus aureus. He was treated with high dose of an appropriate parenteral antibiotic and also removal of the infected line. In spite of optimal treatment, he died 15 days following his admission. The ideal option will be to use a definitive access like a fistula or AV graft, but in practice a significant proportion of hemodialysis patients is dialyzed with temporary or tunneled catheters all over the world, and infection poses a serious threat to dialysis patients resulting in significant mortality and morbidity. In patients with dialysis catheter-related sepsis, removal of the infected catheters and appropriate antibiotic treatment will prevent serious metastatic complications. Planning definitive access well ahead in chronic kidney disease patients and minimizing the use of temporary access is the only way forward.
 ...
PMID:Bacterial meningitis--complication from a dialysis catheter. 1679 45

Peduncular hallucinosis (PH) is a syndrome of hallucinations and brainstem symptoms which has only been described in single case reports. A detailed analysis of five patients was undertaken to investigate the clincial characteristics, hallucinations and behavioural abnormalities of PH in greater detail. Frequent clinical symptoms were oculomotor disturbances, impaired arousal, dysarthria and ataxia. In the chronic stage, sleep-wake cycle disturbances were common. Hallucinations were naturalistic, complex, scenic, mostly visual, but also combined visual-acoustic or visual-tactile and recurred stereotypically over months. Patients experienced their hallucinations as genuine and were unable to discriminate their percepts from reality. Neuropsychological testing disclosed severe impairments of episodic memory, occasionally coupled with confabulatory behaviour. By contrast, memory for hallucinations remained intact. Deficits of attentional and executive functions were found in a subgroup of patients. Associated abnormal behaviours were common, comprising confusion, delusional misidentification for persons and places, and loss of disease awareness. PH appeared after focal lesions in various regions, such as the midbrain, thalamus and pons. These findings document that subcortical, brainstem-related hallucinations are vivid, recurring percepts that have a strong naturalistic character and are often associated with cognitive and behavioural abnormalities. It seems likely that brainstem hallucinosis is caused by damage to ascending reticular systems and thalamocortical circuits. Available observations suggest that PH compromises cognitive functions which enable us to differentiate between illusionary percepts and reality, a reality monitoring system.
 ...
PMID:Peduncular hallucinosis: a syndrome of impaired reality monitoring. 1700 30

Marchiafava-Bignami disease (MBD) is a rare central nervous system disorder of an unknown etiology strongly associated with alcoholism. MBD primarily affects the corpus callosum leading to confusion, dysarthria, seizures and frequently to death. About 250 cases of different races and nationalities, mostly alcoholics have been reported. We report a single-case study of a 43-year-old woman with the history of severe alcohol abuse, who demonstrated typical picture of Marchiafava-Bignami disease (MBD) with fatal course. We reviewed the literature on cases of MBD.
 ...
PMID:[Marchiafava-Bignami disease]. 1720 61

Despite popular use of piperacillin, the dire neurotoxicity associated with piperacillin still goes unrecognized, leading to a delay in appropriate management. We report a 57-year-old woman with end-stage renal disease receiving continuous ambulatory peritoneal dialysis (CAPD), who developed slurred speech, tremor, bizarre behavior, progressive mental confusion, and 2 episodes of generalized tonic-clonic seizure (GTCS) after 5 doses of piperacillin/tazobactam (2 g/250 mg) were given for bronchiectasis with secondary infection. The laboratory data revealed normal plasma electrolyte and ammonia levels but leukocytosis. Neurologic examinations showed dysarthria and bilateral Babinski sign. Computed tomography of brain and electroencephalogram were unremarkable. Despite the use of antiepileptic agents, another GTCS episode recurred after the sixth dose of piperacillin/tazobactam. Brain magnetic resonance imaging did not demonstrate acute infarction and organic brain lesions. Initiation of high-flux hemodialysis rapidly reversed the neurologic symptoms within 4 hours. Piperacillin-induced encephalopathy should be considered in any uremic patients with unexplained neurological manifestations. CAPD is inefficient in removing piperacillin, whereas hemodialysis can rapidly terminate the piperacillin-induced encephalopathy.
 ...
PMID:Piperacillin/tazobactam-induced seizure rapidly reversed by high flux hemodialysis in a patient on peritoneal dialysis. 1749 39

A 44-year-old man with a history of childhood brain injury presented with dysarthria, confusion, reduced oral intake and reduced mobility after a week of heatwave conditions. He had severe hypernatraemia and raised serum creatine kinase levels, consistent with rhabdomyolysis. In most previous case reports linking hypernatraemia and rhabdomyolysis, other factors have potentially contributed. From the available evidence, severe hypernatraemia alone appears sufficient to induce muscle injury.
 ...
PMID:Hypernatraemia and rhabdomyolysis. 1797 21


<< Previous 1 2 3 4 5 6 7 8 9 Next >>