Sociodemographic Factors, Comorbidities, In-Hospital Complications, and Outcomes of Ischaemic Stroke Patients in the Context of the COVID-19 Pandemic in Lithuania: A Retrospective, Record-Based, Single-Centre Study.

INTRODUCTION: The role of COVID-19 regarding in-hospital complications and poor outcomes for patients with ischaemic stroke (IS) is still important to explore. The aim of this study was to evaluate the risk of in-hospital lethality for IS patients respectively to their comorbidities and in-hospital complications in the context of the COVID-19 pandemic. METHODS: We identified 1898 acute IS patients (749 men and 1149 women) admitted to the Lithuanian University of Health Sciences Kaunas Hospital, Lithuania, from December 2020 to February 2022. The sociodemographic, clinical, and outcome features of the patients were evaluated deploying appropriate statistical tests. Hazard ratios and 95% confidence intervals were estimated by the Cox proportional hazards regression for hospital lethality. RESULTS: The risk of in-hospital lethality was 2.22 times higher in men suffering from IS and chronic ischaemic heart disease (cIHD) compared to those with IS and isolated arterial hypertension (iAH) (p < 0.05). COVID-19 elevated the risk of in-hospital lethality in men by 3.16 times (p < 0.05). In comorbid women with type two diabetes mellitus (DM) or cIHD, the risk of in-hospital lethality was two times higher compared to those with iAH (p < 0.05). The risk of in-hospital lethality increased significantly in both men and women, with the total number of in-hospital complications increasing per one unit. CONCLUSIONS: Of the comorbidities studied, DM and cIHD together with COVID-19 elevated the risk of in-hospital lethality significantly. Within the acute in-hospital complications, pneumonia with respiratory failure and acute renal failure showed the most significant prognostic value anticipating lethal outcomes for IS patients.

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.

We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel compound heterozygous Acyl-CoA dehydrogenase 9 gene (ACAD9) mutations (p.Ala390Thr and p.Arg518Cys). ACAD9 is an assembly factor for the mitochondrial respiratory chain complex I. ACAD9 mutations are recognized as frequent causes of complex I deficiency. Our patient presented with exercise intolerance, rapid fatigue, and nausea since early childhood. Mild physical workload provoked the occurrence of nausea and vomiting repeatedly. Her neurological examination, laboratory findings and muscle biopsy demonstrated no abnormalities. A bicycle spiroergometry provoked significant lactic acidosis during and following exercise pointing towards a mitochondrial disorder. Subsequently, the analysis of respiratory chain enzyme activities in muscle revealed severe isolated complex I deficiency. Candidate gene sequencing revealed two novel heterozygous ACAD9 mutations. This patient report expands the mutational and phenotypic spectrum of diseases associated with mutations in ACAD9.

Autonomic disturbances including impaired hand thermoregulation in multiple system atrophy and Parkinson's disease.

Autonomic dysfunction in multiple system atrophy (MSA) comprises cardinal symptoms of orthostatic hypotension (OH) and urinary incontinence. Additionally, cardiovagal and sudomotor abnormalities can be present. Previous studies compared hand skin temperature and its response to cooling in subjects with probable MSA and Parkinson's disease (PD). Significant differences were found indicating that disturbed thermoregulation belongs to MSA autonomic features and could be helpful in differentiation of MSA from PD. The objective of this study was to improve our knowledge about impaired thermoregulation of distal extremities in MSA with parkinsonian features (MSA-P) and PD and to assess the possible interrelations for the different subtypes of autonomic dysfunction in a large cohort of MSA-P, PD and control patients. The patients underwent a standard cooling-rewarming procedure, termed ice test (IT). Electroneurography, heart rate variability, sympathetic skin response and orthostatic tests were performed for the subdivision of the patients. The prevalence of pathological IT was slightly increased in MSA compared with PD and control groups. The presence of pathological IT was related with older patient's age in PD and control groups significantly (p < 0.05). This relation was absent for the MSA patients, who themselves were significantly younger (p = 0.001). Significant association between the presence of pathological IT and OH was determined (p < 0.001). Defective thermoregulation of distal extremities seems to be more severe in the MSA patients. The dysfunction of preganglionic sympathetic neurons might be involved in impaired response to cooling for MSA. The results suggest pathophysiological affinity of impaired sympathetic neurovascular regulation between pathological IT and OH.

Severity of orthostatic hypotension in the course of Parkinson's disease: no correlation with the duration of the disease.

BACKGROUND: Orthostatic hypotension (OH) is a common issue in Parkinson's disease (PD), affecting about 30%-40% of PD patients. Symptoms of OH include lightheadedness, dizziness, postural instability, vertigo and blurred vision. OH considerably contributes to disease burden and reduced quality of life for PD patients. OBJECTIVE: To determine whether the severity of OH in PD advances significantly with the duration of the disease. METHODS: For 106 PD patients lying-to-standing orthostatic tests were performed to evaluate orthostasis. Severity of OH was measured as maximal drop of systolic blood pressure (SBP) after postural challenge, as the mean of three measurements. The relationship between the maximal drop of SBP and the duration of PD was tested applying ANOVA. Consecutively, 64 patients under regular ambulant supervision received appointments to evaluate their orthostasis repeatedly. From these patients a separate cohort was set up to investigate OH progression in the course of PD. RESULTS: The lack of a correlation between the severity of OH in PD and the duration of the disease was determined (p = 0.064). The long term analysis for the patients under regular ambulant supervision demonstrated that the severity of OH does not advance in the course of PD in a statistically significant manner (p = 0.83). CONCLUSIONS: OH does not appear to be a symptom only of the late stage of PD. The presence of OH along with early motor signs does not necessarily point to multiple system atrophy.