A5022921717- Parkinson's Disease Mechanisms and Treatments
- Stroke Rehabilitation and Recovery
- Neurological diseases and metabolism
- Neurological Disorders and Treatments
- Cardiac Health and Mental Health
- Nuclear Receptors and Signaling
- Cellular transport and secretion
- Simulation-Based Education in Healthcare
- Innovations in Medical Education
- Neuroinflammation and Neurodegeneration Mechanisms
- Acute Ischemic Stroke Management
- Neurogenetic and Muscular Disorders Research
- Advances in Oncology and Radiotherapy
- Total Knee Arthroplasty Outcomes
- Surgical Simulation and Training
- Pain Management and Treatment
- Tattoo and Body Piercing Complications
- Hereditary Neurological Disorders
- Electroconvulsive Therapy Studies
- Transcranial Magnetic Stimulation Studies
- Neurological disorders and treatments
- Body Image and Dysmorphia Studies
- Radiomics and Machine Learning in Medical Imaging
- Orthopaedic implants and arthroplasty
- Syphilis Diagnosis and Treatment
National Hospital for Neurology and Neurosurgery
2023-2024
University College London
2023-2024
St. George's University
2023
Mater Dei Hospital
2015-2022
Parkinson's disease is a progressive neurodegenerative disorder with multifactorial causes, among which genetic risk factors play part. The RAB GTPases are regulators and substrates of LRRK2, variants in the LRRK2 gene important for disease. We aimed to explore variability within cases familial
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as subset are both regulators and substrates of LRRK2 kinase. To explore the PD, we undertook comprehensive examination their genetic variability familial PD.Methods: Affected probands from 130 multi-incident families underwent whole-exome sequencing genotyping, Potential...
Summary Background Parkinson’s disease (PD) is a progressive neurodegenerative disorder. Mendelian forms have revealed multiple genes, with notable emphasis on membrane trafficking; RAB GTPases play an important role in PD as subset are both regulators and substrates of LRRK2 protein kinase. To explore the PD, we undertook comprehensive examination their genetic variability familial PD. Methods Affected probands from 130 multi-incident families underwent whole-exome sequencing genotyping,...
The Parkinson's Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset disease (PD). We recruited individuals clinical diagnosis of PD age motor symptom onset ≤45 years and/or family history in up to third-degree relatives. Where possible, we also affected unaffected analysed DNA samples combination single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), whole-genome...
A forty-year-old man experienced worsening heart failure four years following bilateral complicated total hip replacement. His condition was extensively worked up but no underlying pathology immediately evident. Given the cobalt-chromium alloy component present in arthroplasties, raised cobalt blood levels, and a fitting clinical picture coupled with radiological findings, patient underwent right revision. Evidence of biotribocorrosion on direct visualisation intraoperatively. The...
A study evaluating subjective trainee responses to simulation training organized by the Malta Foundation Program in particular whether this changed their clinical practice.Feedback using a standardized questionnaire was obtained from 120 (M=55%) participants. 0-10 Likert scale used evaluate responses.Participants scored sessions as "useful" at 7.7 (95% confidence interval [CI] 7.4-8.0), rated "the overall experience" 7.5 CI 7.2-7.8), and thought it made change "daily practice" 5.83 5.4-6.3)....
<b>Intro:</b> Simulation of a real life scenario an acute ill patient was held for doctors in the foundation year at Mater Dei hospital Malta, using Gaumard® manikin and simulator equipment with two tutors , purpose built facility. <b>Aim:</b> To assess participant response to simulation sessions. <b>Method:</b> Feedback short questionnaire on sought from 120 (M=55%) participants. A 1-10 scale used where 5 neutral, positive responses higher, negative lower. <b>Results:</b> Participants were...
A middle-aged gentleman presented with sequential bilateral facial nerve palsy and ataxia. diagnostic workup revealed positive blood serology for active syphilis infection. Interestingly, his cerebrospinal fluid was negative syphilis. The patient responded to treatment benzylpenicillin made a complete recovery. Unfortunately, the diagnosis of neurosyphilis ‘still’ poses challenge clinicians due insufficient ‘sensitive’ testing modalities criteria. We highlight need low threshold test in...
ABSTRACT The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset disease (PD). We recruited individuals clinical diagnosis of PD age motor symptom onset ≤ 45 years and/or family history in up to third-degree relatives. Where possible, we also affected unaffected analysed DNA samples combination single nucleotide polymorphism (SNP) array genotyping, multiplex ligation-dependent probe amplification (MLPA), whole-genome...