Publications by authors named "Kobylecki C"
Article Synopsis
- Chronic kidney disease increases the risk of atherosclerotic cardiovascular disease (ASCVD), partly due to high levels of remnant cholesterol, even in patients treated with statins.
- A study of over 107,000 individuals indicated that higher remnant cholesterol is linked to increased risks of myocardial infarction and ischemic stroke, especially in those with impaired renal function.
- The findings highlight that elevated remnant cholesterol contributes significantly to ASCVD risk in both statin users and non-users, meaning that additional strategies may be needed to lower this risk in kidney disease patients.
Article Synopsis
- Individuals with diabetes are at a higher risk of atherosclerotic cardiovascular disease (ASCVD) due to factors like hyperlipidemia and elevated remnant cholesterol, which remains a concern even after lowering LDL cholesterol levels.
- Recent studies indicate a causal link between high remnant cholesterol and increased ASCVD risk, suggesting it could be a potential target for treatment.
- However, recent clinical trials on drugs like omega-3 fatty acids and fibrates that aim to lower remnant cholesterol have shown mixed results in preventing ASCVD, highlighting the need for treatments that also decrease apolipoprotein B (apoB) levels for better outcomes.
Background: Seed amplification assay (SAA) testing has been developed as a biomarker for the diagnosis of α-synuclein-related neurodegenerative disorders.
Objective: The objective of this study was to assess the rate of α-synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) and to analyze clinical and pathological features of SAA-positive and -negative cases.
Methods: A total of 96 cerebrospinal fluid samples from clinically diagnosed PSP (n = 59) and CBS (n = 37) cases were analyzed using α-synuclein SAA.
Background: Severe dysphagia poses a significant challenge for clinicians regarding feeding tube choices, practices, and timing due to a lack of evidence-based guidance.
Objectives: To assess national clinical practices and opinions on gastrostomy use in patients with atypical parkinsonian syndromes (APS) across the UK.
Methods: Online survey was administered to clinicians and allied health professionals regarding availability of services, current use, perceived advantages, and problems associated with gastrostomy insertion.
End-of-life care in multiple system atrophy: UK survey of patients and families.
BMJ Support Palliat Care
December 2024
Objectives: People with multiple system atrophy (MSA) and their carers may have many concerns about their disease and the future. This survey of people with MSA and their carers aimed to increase understanding of end-of-life care and palliative care for this group.
Methods: A survey was undertaken by the MSA Trust of people living with MSA and carers of those with the condition between August and October 2022.
Aims: Smoking is a risk factor for cardiovascular disease, but there is currently no clinically established biomarker for its cardiovascular damage. We aimed to investigate the hypothesis that aryl hydrocarbon receptor repressor ( AHRR ) methylation at CpG site cg05575921, a biomarker of smoking behavior, is associated with the risk of peripheral artery disease (PAD) and aortic aneurysm (AA) in the general population.
Methods And Results: In this prospective cohort study of the general population, we measured AHRR methylation in individuals from three visits to the Copenhagen City Heart Study.
Article Synopsis
- A multicenter study involving 18 centers in 12 countries examined 360 patients with frontotemporal dementia (FTD) characterized by right anterior temporal lobe (RATL) atrophy to create a unified clinical description of the syndrome.
- Key symptoms identified in patients included mental rigidity (78%), disinhibition (74%), and naming difficulties (70%), with cognitive tests revealing specific deficits in social interactions and emotional recognition, though lacking in measuring mental rigidity.
- The findings represent the largest cohort of its kind, highlighting under-acknowledged symptoms of RATL and providing valuable insights for clinicians to improve early diagnosis and management of FTD patients.
Article Synopsis
- Corticobasal syndrome is usually linked to common conditions like corticobasal degeneration and Alzheimer's, but this case highlights a rare cause.
- A 78-year-old woman initially diagnosed with idiopathic Parkinson's disease developed symptoms that led to a revised diagnosis of probable corticobasal syndrome after an MRI showed specific brain atrophy.
- After her death, post-mortem findings confirmed Pick's disease, demonstrating that it can mimic corticobasal syndrome symptoms, which is important for differential diagnosis.
Article Synopsis
- Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
- A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
- The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
Article Synopsis
- Pick's disease is a rare form of frontotemporal dementia characterized by Pick bodies in the brain, which are linked to the MAPT gene and its haplotypes, H1 and H2.
- The study aimed to investigate how the MAPT H2 haplotype influences the risk, age of onset, and duration of Pick's disease.
- Data was collected from 338 individuals with confirmed Pick's disease across multiple sites, and associations of MAPT variants with the disease were analyzed using statistical models.
Introduction: Thorough assessment of the antiphospholipid syndrome (APS) includes retesting of positive antiphospholipid antibody (aPL) tests after at least 12 weeks, and a full antiphospholipid antibody profile. To what extent this work-up is done in clinical practice is unknown.
Methods: Data on 25 116 in- and out-hospital patients tested for the presence of lupus anticoagulant (LA), the aPL which most strongly correlates with thrombosis, was extracted from the laboratory information system of the only laboratory that performs LA tests in the Capital Region, Denmark.
Background: Seed amplification assay (SAA) testing has become an important biomarker in the diagnosis of alpha-synuclein related neurodegenerative disorders.
Objectives: To assess the rate of alpha-synuclein SAA positivity in progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), and analyse the clinical and pathological features of SAA positive and negative cases.
Methods: 106 CSF samples from clinically diagnosed PSP (n=59), CBS (n=37) and indeterminate parkinsonism cases (n=10) were analysed using alpha-synuclein SAA.
Background: Multiple system atrophy (MSA), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) show a high prevalence and rapid progression of dysphagia, which is associated with reduced survival. Despite this, the evidence base for gastrostomy is poor, and the optimal frequency and outcomes of this intervention are not known. We aimed to characterise the prevalence and outcomes of gastrostomy in patients with these three atypical parkinsonian disorders.
View Article and Find Full Text PDFPurpose Of Review: Atherosclerotic cardiovascular disease (ASCVD) is the leading cause of death despite the development of effective treatments. Recently, elevated remnant cholesterol and low-grade inflammation have emerged as factors explaining part of the residual ASCVD risk. Interestingly, the coexistence of both high remnant cholesterol and low-grade inflammation can further increase the risk of ASCVD.
View Article and Find Full Text PDFArticle Synopsis
- * His symptoms included severe eyelid drooping (ptosis), eye movement paralysis (ophthalmoplegia), and weakness in his neck and arms, alongside a recent arm fracture requiring amputation.
- * After inconclusive tests and ongoing weakness despite treatment, they identified botulinum toxin too late for effective antitoxin; however, he eventually recovered well neurologically and no longer needed respiratory support.
Objective: We have used corneal confocal microscopy (CCM) to identify corneal nerve loss as a potential marker of neurodegeneration in participants with Parkinson's disease (PD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP).
Methods: Patients with PD (n = 19), PSP (n = 11), MSA (n = 8) and healthy controls (n = 18) underwent neurological assessment and CCM.
Results: Corneal nerve fibre density was significantly lower in participants with PD (p = 0.
A 70-year-old man presented to the clinic with impairment of visual memory and marked predominantly right sided mesial temporal lobe atrophy on imaging. He died 6 years following symptom onset and neuropathological examination showed concomitant progressive supranuclear palsy and Lewy body pathology. Although he did not fulfil clinical criteria for either condition at presentation, we propose that interactions between the two pathologies in mesial temporal regions could result in this atypical clinical phenotype.
View Article and Find Full Text PDFStarting Parkinson's disease (PD) patients on subcutaneous apomorphine (APO) infusion is generally undertaken on a hospital day-case basis. During the COVID-19 pandemic, day-case facilities were unavailable. To avoid delays in treatment, a new procedure was developed for initiation of APO therapy in the patient's home.
View Article and Find Full Text PDFA young woman with Rogers syndrome (thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness) presented with headache, recurrent supraventricular tachycardia and features of an upper gastrointestinal bleed, 1 month after radiofrequency cardiac ablation for supraventricular tachycardia. She deteriorated rapidly after endoscopy and subsequently died. Brain imaging during the acute deterioration showed diffuse intracranial air embolism and hypoxic-ischaemic injury.
View Article and Find Full Text PDFFrontotemporal Dementia-Parkinsonism Due to Gene Variant Presenting with Rest and Action Tremor.
Tremor Other Hyperkinet Mov (N Y)
October 2023
A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy.
View Article and Find Full Text PDFA 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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