Erdheim-Chester disease is often complicated by neurological disorders
Acute polyneuropathy: a serious complication of levodopa/ /carbidopa intestinal gel treatment for Parkinson's Disease
To determine whether a high dose of levodopa-carbidopa intestinal gel (LCIG), expressed as levodopa equivalent daily dose (LE daily dose), is a risk factor for acute polyneuropathy in patients treated with LCIG.
Whole exome sequencing-based testing of adult epilepsy in a Polish population
Genetic panel testing in paediatric and mixed adult and children populations has demonstrated clinical utility and provided a diagnostic yield of 18-40%. The data on adult epilepsies is limited. We aimed to investigate the diagnostic yield and analyse genetic diagnoses in whole exome sequenced adult patients with epilepsies in Poland.
Validation analysis of Polish version of Neuropathic Pain Questionnaire - Short Form (NPQ-SF-PL) and assessment of quality of life in patients with chronic neuropathic pain
The aims of this study were to translate and culturally adapt the Polish version (PL) of the Neuropathic Pain Questionnaire-Short Form (NPQ-SF), as well as to compare this questionnaire to other diagnostic tools in terms of reliability and psychometric validity.
DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome
Safety and efficacy of short percutaneous fixation in AO3 and AO4 lumbar fractures: a single-centre experience of 35 cases
Spinal fractures with subsequent bone fragment dislocation are among the injuries most feared by patients and physicians. The surgical strategy is tailored to the individual patient's characteristics and often consists of pedicle instrumentation with rod-screw systems. Short instrumentation has been associated with worse spinal correction and increased complications. However, recent studies have suggested similar results in terms of kyphosis correction and the maintenance of sagittal alignment compared to longer instrumentation.
Prevalence of ruptured small and very small aneurysms: a retrospective single-centre study
To retrospectively assess the occurrence and consequences of subarachnoid haemorrhages (SAH) caused by ruptured intracranial aneurysms (RIA), particularly focusing on the treatment outcomes of small aneurysms treated with either endovascular embolisation or surgical intervention.
Assessment of acute neuronal injury in critical illness: prognostication in septic shock patients - preliminary study in a Polish population
Sepsis-associated brain dysfunction is a common organ dysfunction in sepsis. The main goal of this study was to verify whether the combined assessment of central nervous system injury markers (i.e. S100B, NSE, GFAP) and disease severity as per the Acute Physiology and Chronic Health Evaluation II (APACHE II), Simplified Acute Physiology Score II (SAPS II), and Sequential Organ Failure Assessment (SOFA) classification systems, would increase the accuracy of death prediction in septic shock.
SERPINE1 and MTHFR variants: key targets in the search for genetic determinants in ESUS?
Minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) in treatment of degenerative diseases of lumbosacral spine compared to modified open TLIF: a prospective randomised controlled study
The aim of this study was to determine the clinical and radiological outcomes of minimally invasive transforaminal lumbar interbody fusion (MIS TLIF) compared to modified open TLIF via the Wiltse approach for treatment of degenerative diseases of the lumbosacral region. The results were evaluated over a post-operative period of 48 months.
Management of autoimmune temporal lobe epilepsy with GAD65 antibody: four case reports
Glutamate decarboxylase (GAD) enzyme can be a target intracellular antigen in autoimmune focal epilepsy. GAD65 antibody is in found patients diagnosed with drug-refractory temporal lobe epilepsy (TLE). We explore the clinical features of the disease and therapeutic options.
Deep brain stimulation of hippocampus in treatment of refractory temporal lobe epilepsy
Temporal lobe epilepsy (TLE) is the most common cause of focal onset seizures, affecting 40% of adolescents and adults with epilepsy. TLE is also one of the most common drug resistant forms of epilepsy. Surgical resection remains the treatment of choice for TLE, but not all patients with TLE are suitable candidates for resective neurosurgery. For such patients, deep brain stimulation (DBS) of the hippocampus remains a reversible and efficient treatment alternative.
From rarity to reality: Poland's first case of neurological Erdheim-Chester Disease with cerebellar manifestations
Differences in subcortical functional connectivity in patients with epilepsy
Epilepsy is a disease characterized by abnormal paroxysmal bioelectrical activity in the brain cortex and subcortical structures. Seizures per se change brain metabolism in epileptic focus and in distal parts of the brain. However, interictal phenomena can also affect functional connectivity (FC) and brain metabolism in other parts of the brain.
Haemorrhagic intracranial complications associated with vaccine-induced thrombocytopenia or central venous thrombosis after COVID-19 vaccination: postulated underlying mechanisms with literature and case review
Despite the unequivocal medical and social advantages of introducing vaccines against the novel coronavirus SARS-CoV-2, there were also some concerns regarding possible post-vaccination adverse events. Most of these are mild. But in rare cases, severe neurological symptoms including ischaemic stroke, intracranial haemorrhage (ICH), cerebral venous and sinus thrombosis (CVT), and thrombosis with thrombocytopenia (TTS) have been observed. Literature data suggests that thrombosis with thrombocytopenia was the major underlying cause of the ICH; dural venous sinuses/cerebral veins were indicated as the primarily affected sites of thrombosis. Our review confirms the previously documented suspicion that CVT and TTS are most likely to occur following vector-type, rather than mRNA, vaccine administration. The postulated mechanism of TTS is similar to heparin-induced thrombocytopenia (HIT) both clinically and serologically. Although ICH and VITT are very rare side effects of the COVID-19 vaccine, for patients with risk factors for thrombosis (e.g. pregnancy), physicians should carefully consider the benefit/risk ratio of vaccination.
Unruptured intracranial aneurysm volume change patterns and association with age, sex, location in vascular tree, and common risk factors: a single-centre retrospective study
Unruptured intracranial aneurysms pose a significant clinical and decision-making dilemma. Increase in dome size is one of the crucial indications for treatment. Almost no data exists as to how aneurysms change in size over time.
Association of glutamine synthetase polymorphisms rs2296521, rs10911021 and rs12136955 with plasma ammonia concentration in valproic acid-treated Egyptian epilepsy patients
The use of valproic acid (VPA) in the treatment of some psychiatric and neurological disorders such as bipolar disorder, migraines, and epilepsy is associated with hyperammonemia. However, the mechanism of this negative effect of VPA is unclear. In this study, we investigate gene glutamate-ammonia ligase (GLUL) polymorphisms for the glutamine synthetase (GS) enzyme, a key enzyme that catalyzes the removal of ammonia by incorporating it with glutamate to form glutamine, and we investigate whether it has a relationship with the emergence of hyperammonemia during VPA-based therapy.
Clinical significance of plasma candidate biomarkers of Alzheimer's Disease
The number of patients with Alzheimer's Disease (AD) has increased rapidly in recent decades. AD is a complex progressive neurodegenerative disease affecting c.14 million patients in Europe and the United States. The hallmarks of this disease are neurotic plaques composed of the amyloid-β (Aβ) peptide and neurofibrillary tangles formed of hyperphosphorylated tau protein (pTau). To date, four CSF biomarkers: amyloid beta 42 (Aβ42), Aβ42/40 ratio, Tau protein, and Tau phosphorylated at threonine 181 (pTau181) have been validated as core neurochemical AD biomarkers. Imaging biomarkers are valuable for AD diagnosis, although they suffer from limitations in their cost and accessibility, while CSF biomarkers require lumbar puncture. Thus, there is an urgent need for alternative, less invasive and more cost-effective biomarkers capable of diagnosing and monitoring AD progression in a clinical context, as well as expediting the development of new therapeutic strategies. This review assesses the potential clinical significance of plasma candidate biomarkers in AD diagnosis. We conclude that these proteins might hold great promise in identifying the pathological features of AD. However, the future implementation process, and validation of the assays' accuracy using predefined cut-offs across more diverse patient populations, are crucial in establishing their utility in daily practice.
Ultrasonographically measured atrophy of vagus nerve in Parkinson's Disease: clinical and pathogenetic insights plus systematic review and meta-analysis
According to the current Parkinson's Disease (PD) pathogenesis hypotheses, the vagus nerve (VN) is essential for disease development. It has been identified as a main entry point for misfolded α-synuclein to the central nervous system, and surgical vagotomy appears to limit disease progress both in animal models and in humans. A recent approach tried to assess VN size in PD patients via neck ultrasonography, but the clinical value of this method is yet to be established.
Mechanical thrombectomy in very elderly people: shortand long-term outcomes of endovascular stroke treatment in nonagenarians
To assess outcomes of mechanical thrombectomy (MT) in nonagenarians suffering from acute ischaemic stroke (AIS) in a 1-year follow-up.
Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome