Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 5 de 5
Filter
Add more filters










Database
Language
Publication year range
1.
Eur J Neurol ; : e16405, 2024 Jul 08.
Article in English | MEDLINE | ID: mdl-38973423

ABSTRACT

BACKGROUND AND PURPOSE: Late-onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67-year-old gentleman who presented with a 3-month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end-stage chronic kidney disease. METHODS: Extensive work-up including serological, cerebrospinal fluid, magnetic resonance imaging and electroencephalography was performed. Whole exome sequencing and muscle biopsy confirmed the diagnosis. RESULTS: Magnetic resonance imaging brain demonstrated a single non-enhancing T2 fluid attenuated inversion recovery hyperintense cortical/subcortical signal change in the right temporal lobe and cerebellar atrophy. Given the subacute presentation of uncertain aetiology, he was empirically treated for autoimmune/paraneoplastic encephalitis. Despite radiological resolution of the cortical abnormality 2 weeks later, there was no clinical improvement. Further collateral history unveiled a mildly ataxic gait and longstanding hearing loss suggestive of a genetic cause. Whole exome sequencing revealed a likely pathogenic, heteroplasmic mitochondrial DNA variant in the MT-TV gene, m.1659T>C, present at higher levels of heteroplasmy in muscle (91%) compared to other mitotic tissues. A high fat/protein diet and multivitamins including co-enzyme Q10 were commenced. Treatment of the nutritional deficiency and avoidance of intermittent fasting due to unreliable oral intake secondary to encephalopathy probably contributed to the clinical improvement seen over the ensuing few months, with resolution of his encephalopathy and return to his baseline gait and weight. CONCLUSION: An adult case is reported with an acute neurological presentation mimicking encephalitis, caused by a heteroplasmic m.1659T>C MT-TV variant, previously reported once in a child who displayed a different clinical phenotype.

2.
Mov Disord Clin Pract ; 9(3): 334-339, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35402654

ABSTRACT

Background: Parkinson's disease (PD) is the second most common neurodegenerative disease with a lifetime risk of 1% to 3%. Treatment includes supplementation of central dopaminergic neurotransmission with levodopa preparations and dopamine agonists. Misprescribing and delayed administration of these medications on admission to hospital can result in increased morbidity and mortality. Objective: We aimed to assess the accuracy of time-critical PD medication prescribing and administration during unplanned hospital admissions. Methods: Patients admitted during a 15-month period with PD on time-critical PD medications were included. Their electronic patient records were compared with the pharmacist medication reconciliation to assess accuracy of admission prescribing. Accuracy of administration was assessed by comparing the time medications were administered to the time they were due. Statistical Package for Social Sciences software was used to perform statistical analysis in this study. Results: A total of 102 admissions of 70 patients (67% men) were included for analysis. These patients were on 1.6 ± 0.8 time-critical PD medications before admission, accounting for 4.1 ± 1.8 administrations per day. Time-critical medications were prescribed correctly on admission in 50% of admissions, with errors in medication timing most common (31.6%). Of all doses, 51.7% were administered >30 minutes late, and 29.7% of doses were administered >1 hour late. Female sex, a higher number of medications, and more frequent administrations were significantly associated with the rate of medication error. Conclusion: This study demonstrates high rates of inaccurate prescribing and inaccurate administration of time-sensitive medication in a cohort of patients with PD admitted acutely to hospitals.

3.
Age Ageing ; 51(2)2022 02 02.
Article in English | MEDLINE | ID: mdl-35134844

ABSTRACT

INTRODUCTION: both atrial fibrillation (AF) and frailty are increasingly prevalent with age. Cross-sectional studies have suggested a relationship between AF and frailty, but longitudinal data are lacking. We explored if the presence of AF was associated with accelerated progression of frailty over 8 years in community-dwelling older adults. METHODS: a longitudinal retrospective case-control study was conducted using data from Waves 1 and 5 of the Irish Longitudinal Study on Ageing (TILDA). Participants with electrocardiographically detected AF at Wave 1 were matched to controls without AF (1:2) based on age and gender. Frailty was assessed using both the frailty phenotype (FP) and a 31-item frailty index (FI). Change in cases' and controls' FP and FI scores from Waves 1 to 5 were modelled using repeated measures analysis of variance (RM-ANOVA). RESULTS: one hundred eighteen TILDA participants with AF at Wave 1 were matched to 236 controls. By FP, participants with AF were not significantly more frail than controls at Wave 1 (P = 0.166) but were at Wave 5 (P = 0.011), and RM-ANOVA suggested that frailty progressed more in participants with AF between Waves 1 and 5 compared with controls (P = 0.033). By FI, participants with AF were significantly more frail at Wave 1 (P < 0.001) and 5 (P = 0.010), and RM-ANOVA did not show a difference in frailty progression between groups (P = 0.955). CONCLUSION: AF may drive the development of the FP. The FP is a pre-disability syndrome and hence may be better than the FI as a focus for disability prevention in adults with AF.


Subject(s)
Atrial Fibrillation , Frailty , Acceleration , Aged , Aging , Atrial Fibrillation/diagnosis , Atrial Fibrillation/epidemiology , Case-Control Studies , Cross-Sectional Studies , Frail Elderly , Frailty/diagnosis , Frailty/epidemiology , Geriatric Assessment , Humans , Longitudinal Studies , Retrospective Studies
5.
PLoS One ; 7(8): e42075, 2012.
Article in English | MEDLINE | ID: mdl-22876300

ABSTRACT

An n = π* interaction between neighboring carbonyl groups has been postulated to stabilize protein structures. Such an interaction would affect the (13)C chemical shielding of the carbonyl groups, whose paramagnetic component is dominated by n = π* and π = π* excitations. Model compound calculations indicate that both the interaction energetics and the chemical shielding of the carbonyl group are instead dominated by a classical dipole-dipole interaction. A set of high-resolution protein structures with associated carbonyl (13)C chemical shift assignments verifies this correlation and provides no evidence for an inter-carbonyl n = π* interaction.


Subject(s)
Nuclear Magnetic Resonance, Biomolecular , Proteins/chemistry , Carbon Isotopes , Hydrogen Bonding , Models, Molecular
SELECTION OF CITATIONS
SEARCH DETAIL
...