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)

Deep brain stimulation (DBS) of the ventral intermediate nucleus of the thalamus for essential tremor is sometimes limited by side effects. The mechanisms by which DBS alleviates tremor or causes side effects are unclear; thus, it is difficult to select stimulus parameters that maximize the width of the therapeutic window. The goal of this study was to quantify the impact on side effect intensity (SE), tremor amplitude, and the therapeutic window of varying stimulus parameters. Tremor amplitude and SE were recorded at 40 to 90 combinations of pulse width, frequency, and voltage across 14 thalami. Posterior variable inclusion probabilities indicated that frequency and voltage were the most important predictors of both SE and tremor amplitude. The amount of tremor suppression achieved at frequencies of 90 to 100 Hz was not different from that at 160 to 170 Hz. However, the width of the therapeutic window decreased significantly and power consumption increased as frequency was increased above 90 to 100 Hz. Improved understanding of the relationships between stimulus parameters and clinical responses may lead to improved techniques of stimulus parameter adjustment.
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PMID:Clinical response to varying the stimulus parameters in deep brain stimulation for essential tremor. 1697 36

PHACE syndrome is a neuro-cutaneous syndrome characterized by malformations of the Posterior fossa, facial Hemangiomas, Arterial anomalies, Cardiac anomalies, and abnormalities of the Eye. The arterial abnormalities usually involve the cervical and cerebral vasculature and include congenital abnormalities and progressive cerebral vasculopathy. The progressive cerebral vasculopathy leads to increased risk for arterial ischemic stroke (AIS) in patients with PHACE syndrome. Here we described the clinical neurological sequelae, the malformation of brain, the cervical and cerebral vasculopathy in a 23-year-old female of PHACE syndrome. Besides, she presented AIS with limb-shaking transient ischemic attack, a rare clinical presentation of AIS in patients of PHACE syndrome.
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PMID:Limb-shaking transient ischemic attacks in an adult PHACE syndrome: a case report and review of the literature. 2171 Jan 24

Mutism and Subsequent Dysarthria (MSD) and the Posterior Fossa Syndrome (PFS) have become well-recognized clinical entities which may develop after resection of cerebellar tumours. However, speech characteristics following a period of mutism have not been documented in much detail. This study carried out a perceptual speech analysis in 24 children and adolescents (of whom 12 became mute in the immediate postoperative phase) 1-12.2 years after cerebellar tumour resection. The most prominent speech deficits in this study were distorted vowels, slow rate, voice tremor, and monopitch. Factors influencing long-term speech disturbances are presence or absence of postoperative PFS, the localisation of the surgical lesion and the type of adjuvant treatment. Long-term speech deficits may be present up to 12 years post-surgery. The speech deficits found in children and adolescents with cerebellar lesions following cerebellar tumour surgery do not necessarily resemble adult speech characteristics of ataxic dysarthria.
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PMID:Auditory-perceptual speech analysis in children with cerebellar tumours: a long-term follow-up study. 2226 Oct 78

Posterior rib fractures are highly indicative of non-accidental trauma (NAT) in infants. Since 2000, the "two-thumbs" technique for cardiopulmonary resuscitation (CPR) of newborns and infants has been recommended by the American Heart Association (AHA). This technique is similar to the grip on an infant's thorax while shaking. Is it possible that posterior rib fractures in newborns and infants could be caused by the "two-thumbs" technique? Using computerized databases from three German children's hospitals, we identified all infants less than 12 months old who underwent professional CPR within a 10-year period. We included all infants with anterior-posterior chest radiographs taken after CPR. Exclusion criteria were sternotomy, osteopenia, various other bone diseases and NAT. The radiographs were independently reviewed by the Chief of Pediatric Radiology (MB) and a Senior Pediatrician, Head of the local Child Protection Team (IF). Eighty infants with 546 chest radiographs were identified, and 50 of those infants underwent CPR immediately after birth. Data concerning the length of CPR was available for 41 infants. The mean length of CPR was 11min (range: 1-180min, median: 3min). On average, there were seven radiographs per infant. A total of 39 infants had a follow-up radiograph after at least 10 days. No rib fracture was visible on any chest X-ray. The results of this study suggest rib fracture after the use of the "two-thumbs" CPR technique is uncommon. Thus, there should be careful consideration of abuse when these fractures are identified, regardless of whether CPR was performed and what technique used. The discovery of rib fractures in an infant who has undergone CPR without underlying bone disease or major trauma warrants a full child protection investigation.
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PMID:Cardiopulmonary resuscitation (CPR)-related posterior rib fractures in neonates and infants following recommended changes in CPR techniques. 2463 60

Posterior cortical atrophy (PCA) is a neurodegenerative syndrome characterized by impaired higher visual processing skills; however, motor features more commonly associated with corticobasal syndrome may also occur. We investigated the frequency and clinical characteristics of motor features in 44 PCA patients and, with 30 controls, conducted voxel-based morphometry, cortical thickness, and subcortical volumetric analyses of their magnetic resonance imaging. Prominent limb rigidity was used to define a PCA-motor subgroup. A total of 30% (13) had PCA-motor; all demonstrating asymmetrical left upper limb rigidity. Limb apraxia was more frequent and asymmetrical in PCA-motor, as was myoclonus. Tremor and alien limb phenomena only occurred in this subgroup. The subgroups did not differ in neuropsychological test performance or apolipoprotein E4 allele frequency. Greater asymmetry of atrophy occurred in PCA-motor, particularly involving right frontoparietal and peri-rolandic cortices, putamen, and thalamus. The 9 patients (including 4 PCA-motor) with pathology or cerebrospinal fluid all showed evidence of Alzheimer's disease. Our data suggest that PCA patients with motor features have greater atrophy of contralateral sensorimotor areas but are still likely to have underlying Alzheimer's disease.
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PMID:Motor features in posterior cortical atrophy and their imaging correlates. 2508 39

Essential tremor (ET) is the most prevalent movement disorder, affecting millions of people in the USA. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. In an attempt to identify genetic causes for ET, we performed whole-exome sequencing analyses in a large Spanish family with ET, in which two patients also developed epilepsy. To further assess pathogenicity, site-directed mutagenesis, mouse and human brain expression analyses, and patch clamp techniques were performed. A disease-segregating mutation (p.Gly1537Ser) in the SCN4A gene was identified. Posterior functional analyses demonstrated that more rapid kinetics at near-threshold potentials altered ion selectivity and facilitated the conductance of both potassium and ammonium ions, which could contribute to tremor and increase susceptibility to epilepsy, respectively. In this report, for the first time, we associated the genetic variability of SCN4A with the development of essential tremor, which adds ET to the growing list of neurological channelopathies.
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PMID:SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy. 2642 6