Publications by authors named "Bonello M"

Recent evidence suggests that systemic conditions, particularly those associated with inflammation, can affect erythrocyte deformability in the absence of haematological conditions. In this exploratory study, we investigated the relationship between systemic inflammatory status and erythrocyte deformability (using osmotic gradient ektacytometry) in a heterogenous study population consisting of individuals with no medical concerns, chronic conditions, and acute illness, providing a wide range of systemic inflammation severity. 22 participants were included in a prospective observational study.

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  • Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
  • The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
  • Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
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This report summarises the SMARTCLAP research project, which employs a user-centred design approach to develop a revolutionary smart product service system. The system offers personalised motivation to encourage children with cerebral palsy to actively participate more during their occupational therapy sessions, while providing paediatric occupational therapists with an optimal tool to monitor children's progress from one session to another. The product service system developed includes of a smart wearable device called DigiClap used to interact with a serious game in an Augmented Reality environment.

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  • Anti-IgLON5 disease is an autoimmune encephalitis that often goes undiagnosed, characterized by diverse symptoms affecting sleep, movement, and other functions.
  • A study of 87 patients revealed strong associations between the disease and specific HLA-DQ genotypes, indicating a genetic predisposition to its development.
  • Experiments showed that modified IgLON5 peptides preferentially bind to these HLA-DQ receptors, suggesting that this interaction could trigger T-cell responses involved in initiating the disease.
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A 21-year-old woman of south Asian origin presented with cervical dystonia which had progressed over the previous three years. Her symptoms started as writer's cramp since the age of seven years. She did not respond to medications and needed botulinum toxin injection for generalised dystonia.

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Background: We quantified the individual and joint contribution of contemporaneous causal behavioural exposures on the future burden of oesophageal and stomach cancers and their subtypes and assessed whether these burdens differ between population groups in Australia, as such estimates are currently lacking.

Methods: We combined hazard ratios from seven pooled Australian cohorts (N = 367,058) linked to national cancer and death registries with exposure prevalence from the 2017-2018 National Health Survey to estimate Population Attributable Fractions (PAFs) with 95% confidence intervals (CIs), accounting for competing risk of death.

Results: Current and past smoking explain 35.

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Background: Health professionals face barriers in carrying out effective health promotion and disease prevention. To indicate what are the needs for curriculum development in educational programmes, this study aims to provide an overview of how various health professionals are currently trained in health promotion and disease prevention at different educational levels.

Methods: In 2019, a descriptive mapping exercise was performed focusing on European programmes for different health and healthcare professionals at the three levels of education (undergraduate, postgraduate, and continuous professional development [CPD]).

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Introduction: This paper takes a multi-stakeholder approach to generate key requirements to design smart habilitation devices for children with Cerebral Palsy. Four groups of different relevant stakeholders of smart-habilitation devices were approached to participate in this study, including children with Cerebral Palsy, their parents, occupational therapists, as well as technical specialists.

Methods: Profiles of children with Cerebral Palsy were generated to have a concrete idea of their needs and desires.

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A 21-year-old patient presented with sudden-onset headache, visual disturbance and left hand incoordination. She was diagnosed with a left vertebral artery dissection of the V3 segment resulting in multiple cerebellar and cerebral infarcts. There were no risk factors for dissection other than recent COVID-19 infection.

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Introduction: Holmes Tremor (HT) is a unique and debilitating movement disorder. It usually results from lesions of the midbrain and its connection but can also result from posterior thalamic injury. Clinical examination can help lesion localization between these two areas.

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Background: Little information is available on the official postgraduate and subspecialty training programs in movement disorders (MD) in Europe and North Africa.

Objective: To survey the accessible MD clinical training in these regions.

Methods: We designed a survey on clinical training in MD in different medical fields, at postgraduate and specialized levels.

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Background: Triple-negative breast cancer is an aggressive type of breast cancer with high risk of recurrence. It is still poorly understood and lacks any targeted therapy, which makes it difficult to treat. Thus, it is important to understand the underlying mechanisms and pathways that are dysregulated in triple-negative breast cancer.

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When considering Deep Brain Stimulation (DBS) surgical treatment of dystonia syndromes, it is important to consider multiple aspects of the disease and its presentation. It is crucial to know if the dystonia is idiopathic, inherited or acquired as well as focal, segmental or generalised. Careful phenotyping of idiopathic as well as inherited dystonias and accurate diagnosis of acquired dystonias informs the decision-making process for patients and clinicians by providing them with useful predictors of outcomes of the proposed surgery.

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Background: Congenital insensitivity to pain (CIP) is an extremely rare condition in which there is a failure of the development of the afferent sensory nerves in the dorsal root ganglia resulting in indifference to painful stimuli. The associated orthopedic manifestations are various and often present a diagnostic quandary for the treating surgeon.

Purpose: This population study provides insight into the orthopedic manifestations and functional scores in patients with CIP, to guide prognosis and management.

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The production of secondary metabolites in tissue culture has been considered as an alternative to the cultivation and harvesting of crops intended for this purpose. The present study was aimed at the growth of callus and production of polyphenolic compound of callus derived from a Maltese indigenous grapevine variety, Ġellewża. Callus was inoculated onto plant growth regulators-enriched Murashige Skoog media (MSm) to determine whether polyphenols are produced in vitro as well as to determine the best combination of plant growth regulators needed for the production of these metabolites.

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The benefits of a collaborative practice-ready workforce for patient-centered care are internationally gaining momentum and the Interprofessional education (IPE) movement is contributing to this. In the small island state of Malta, the importance of a collaborative health-care workforce is being promoted and endorsed in policy documents. However, IPE has not yet been formally integrated into professional health education curricula.

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Background: Radiotherapy plays an important role in the multimodal treatment of breast cancer. The response of a breast tumour to radiation depends not only on its innate radiosensitivity but also on tumour repopulation by cells that have developed radioresistance. Development of effective cancer treatments will require further molecular dissection of the processes that contribute to resistance.

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Ovarian cancer is the second most lethal gynecological cancer worldwide and while most patients respond to initial therapy, they often relapse with resistant disease. Human epidermal growth factor receptors (especially HER1/EGFR and HER2/ERBB2) are involved in disease progression; hence, strategies to inhibit their action could prove advantageous in ovarian cancer patients, especially in patients resistant to first line therapy. Monoclonal antibodies and tyrosine kinase inhibitors are two classes of drugs that act on these receptors.

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The World Health Organisation identifies interprofessional education (IPE) as a key element for preparing a collaborative workforce. However, global implementation remains challenging due to individual, professional and organisational barriers. A qualitative case study explored the concept of introducing an undergraduate IPE programme at the Faculty of Health Sciences, University of Malta.

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A 78-year-old woman presented with involuntary movements of her abdomen, which started after a right hemispheric stroke. She had irregular, variable, hyperkinetic predominantly right-sided abdominal wall movements. MR scan of brain confirmed a recent infarct in the right occipitotemporal lobe and the right cerebellum.

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A patient presented with fulminant pulmonary oedema and required acute intubation and ventilation. There was no history of a prior cardiac disorder. As he was weaned from sedation, following stabilisation of his pulmonary status, neurological signs suggestive of brainstem dysfunction became apparent.

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