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Cognition assessments to predict inpatient falls in a subacute stroke rehabilitation setting.
Conclusions: Cognition assessments, i.e., one FIM item, one RAVLT item, or a one-minute verbal fluency test are significant falls predictors. PMID: 32431244 [PubMed - as supplied by publisher]
Source: Topics in Stroke Rehabilitation - May 19, 2020 Category: Neurology Authors: García-Rudolph A, García-Molina A, Opisso E, Tormos JM, Bernabeu M Tags: Top Stroke Rehabil Source Type: research

Metabolic stroke in a patient with bi-allelic OPA1 mutations
We describe metabolic stroke in a patient with bi-allelicOPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that includes: early onset optic atrophy at one year of age, progressive gait ataxia, dysarthria, tremor and learning impairment. A metabolic stroke occurred at the age of 12  years. The patient was found to harbor a de novo heterozygous frame shift mutation c.1963_1964dupAT; p.Lys656fs (NM_015560.2) and a missense mutation c.1146A >  G; Ile382Met (NM_015560.2) inherited from her mother. The mother, aunt, and grandmother are heterozygous for the Ile382Met mutation and are as...
Source: Metabolic Brain Disease - April 9, 2019 Category: Neurology Source Type: research

Recurrent Alternating Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS) (P4.260)
CONCLUSIONS: We describe a unique phenomenon of recurrent alternating homonymous hemianopia in MELAS, which should prompt consideration of this diagnosis.Disclosure: Dr. Krysko has nothing to disclose. Dr. Arun has nothing to disclose.
Source: Neurology - April 3, 2016 Category: Neurology Authors: Krysko, K., Arun, S. Tags: Neuro-ophthalmology/Neuro-otology Source Type: research

The use of motor learning and neural plasticity in rehabilitation for ataxic hemiparesis: A case report.
DISCUSSION: This case report describes a novel intervention strategy for a patient with ataxia following a lacunar stroke. The application of the principles of neural plasticity and motor learning was the foundation for a function-based plan of care. PMID: 30686101 [PubMed - as supplied by publisher]
Source: Physiotherapy Theory and Practice - January 27, 2019 Category: Physiotherapy Authors: Crum EO, Baltz MJ, Krause DA Tags: Physiother Theory Pract Source Type: research

Transcriptomic Analysis of Mecp2 Mutant Mice Reveals Differentially Expressed Genes and Altered Mechanisms in Both Blood and Brain
This study was carried out in accordance with the recommendations of National Animal Welfare Authority, Ireland. The protocol was approved by the Animal Ethical Committee Trinity College Dublin and HPRA.Author ContributionsAS performed the experiments and wrote the paper; KH provided assistance in the design and analysis of the RNAseq experiment; DT contributed to sample extraction and establishment of the colony; and DT and MG designed and supervised all the parts of the research and the writing of the manuscript.FundingThe study was funded by the Wellcome Trust Grant WT079408/C/06/Z issued to MG, and by an SFI FN Funded ...
Source: Frontiers in Psychiatry - April 29, 2019 Category: Psychiatry Source Type: research

What Causes Ataxia?
Discussion Coordination and balance problems are caused by various problems affecting the central and peripheral nervous system. Normal development of a child or weakness of a child are commonly mistaken for true ataxia. Ataxia specifically refers to “…impairment of the coordination of movement without loss of muscle strength.” If it is purely due to abnormalities of the cerebellum then there should be no changes in mental status, sensation or weakness. Sometimes it is difficult to determine if there are abnormalities in other areas. For example, Guillian-Barre often presents with difficulty or clumsy wal...
Source: PediatricEducation.org - March 31, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

G.P.157: Clinical and pathological features associated with mutations in MICU1
We present the clinical/pathological features in a cohort of 18 patients. Patients presented between birth and 8years with a mild, relatively static, proximal myopathy associated with high Creatinine Kinase (2000–10,000iu/L), learning difficulties and frequent microcephaly. At follow up (5–28yrs), all remained ambulant but variable extrapyramidal symptoms had developed in the majority by the end of the 1st decade. Other features suggestive of mitochondrial dysfunction included peripheral neuropathy, icthyosis, stroke like episodes, episodic weakness, ataxia and cataracts. Cardiomyopathy was not seen. Serum and CSF lact...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: A.M. Childs, K. Pysden, H. Roper, G. Chow, E.H. Niks, M. Kriek, P.F. Chinnery, D. Lewis-Smith, M. Duchen, G. Szabadkai, C. Logan, E. Sheridan, C. Sewry, F. Muntoni Source Type: research

What Causes Microcephaly?
Discussion Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births. The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several diff...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news