Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Four mature infants developed intracranial haemorrhage at ages from ten hours to five weeks. No predisposing or provoking factors could be demonstrated. The symptoms were apnoea, vomiting, pyrexia, irritability, tremor, hypertonicity, seizures and tense fontanelle. The diagnosis was established by ultrasound scanning and confirmed by computed tomographic scanning. The infants developed hydrocephalus requiring treatment. During the period of observation, these infants showed normal psychomotor development and the neurological findings were normal.
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PMID:[Intracranial hemorrhage in mature infants without predisposing factors]. 218 Jan 63

Two siblings of juvenile parkinson's disease dystonic type (JPA Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa, HPD) were reported. The family had consanguinity. The elder brother suffered from resting tremor of legs, left foot dystonia and left pes equinovarus at the age of 12 years and 5 months. At the age of 15, he developed tremor and rigidity of upper extremities. These symptoms did not show diurnal fluctuation and markedly responded to L-dopa treatment. He implicated wearing-off phenomenon at the age of 16, and on-off phenomenon and L-dopa-induced dyskinesia at the age of 18. He was diagnosed as JPA Yokochi type 3. The younger brother suffered from left pes equinovarus, right scoliosis and foot dystonia at the age of 8 years. These symptoms showed remarkable diurnal fluctuation, which ameliorated after sleep or rest and worsened afternoon. He noticed fine postural tremor of upper extremities at psychological tense state and right pes varus at the age of 16. He received L-dopa at the age of 17 and became to be remission. He was diagnosed as HPD. Since these two disorders related to basal ganglia show similar clinical symptoms mainly consisting of foot dystonia and similar clinicopharmacological response to L-dopa, it has been assumed that shared abnormalities in pathomechanism can exist between them. This study indicates that the same gene-regulated abnormality may participate in the development of these two disorders.
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PMID:[Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)]. 280 13

An auditory and acoustic analysis was performed of the voice production of 24 children between 5 and 8 years of age with unintelligible speech and 24 children without speech or language deficits matched for age. Two aspects of voice production were assessed, prephonatory tuning and phonatory modulation. The categories used for the auditory assessment were preutterance vocalizations, abnormal initiation, rough voice, breathy voice, tense voice, voice tremor, intraphonemic disruption and pitch break. The acoustic analysis consisted of calculation of the mean fundamental frequency and the pitch perturbation factor in repetitions of the series of syllables /pa/, /ta/, /ka/. Intrasyllabic pitch breaks were also noted. The children with unintelligible speech had significantly more signs of abnormal prephonatory tuning and abnormal phonatory modulation than the control children. The findings suggest that voice production in unintelligible children has not yet become automatized. This possibility is discussed in relation to the central control of phonation.
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PMID:Deficits in fine motor coordination in children with unintelligible speech. 374 82

Prospective studies using video-recordings of patients during mechanical ventilator treatment (MVT) while conscious have not previously been published. The aim was to describe patients' statements, communication and facial expressions during a video-recorded interview while undergoing MVT. Content analysis and hermeneutics inspired by the philosophy of Gadamer were used. The patients experienced almost constant difficulties in breathing and lost their voice. The most common types of communication techniques patients used were nodding or shaking the head. Their expressions were interpreted as stiffened facial expression, tense body position and feelings of sadness and sorrow. Nursing care for patients' conscious during MVT is challenging as it creates new demands regarding the content of the care provided. In caring for patients undergoing MVT while conscious, establishing a caring relationship, making patients feel safe and helping them to communicate seem to be most important for alleviating discomfort and instilling hope.
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PMID:Patients' statements and experiences concerning receiving mechanical ventilation: a prospective video-recorded study. 2288 7