Sleep-related rhythmic movement disorder in adults - A systematic review with a case report.

Sleep-related rhythmic movement disorder is characterised by stereotyped and repetitive rhythmic movements involving large muscle groups during sleep with frequencies between 0.5 and 2 Hz. Most of the published studies on sleep-related rhythmic movement disorder have focussed on children. Therefore, we performed a systematic review on this topic focussing on the adult population. The review is followed by a case report. The review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 guidelines. A total of seven manuscripts (n = 32 individuals) were included in the review. The clinical manifestation of body or head rolling predominated in the majority of included cases (53.13% and 43.75%, respectively). In n = 11 (34.37%) cases, a combination of rhythmic movements was observed. The literature review also revealed a wide spectrum of co-morbidities: insomnia, restless leg syndrome, obstructive sleep apnea, ischaemic stroke, epilepsy, hypertension, alcohol and drug dependency, mild depression, and diabetes mellitus. The case report presented a 33-year-old female who was referred to the sleep laboratory due to a suspicion of sleep bruxism and obstructive sleep apnea. Although the patient was initially suspected of having obstructive sleep apnea and sleep bruxism, after conducting video-polysomnography she met the criteria for sleep-related rhythmic movement disorder as she presented body rolling, which were surprisingly most evident during the rapid eye movement sleep stage. In summary, the prevalence of sleep-related rhythmic movement disorder among adults has not been determined yet. The present review and case report is a good starting point for discussion regarding rhythmic movement disorder in adults and further research on this topic.

Health-Promoting Properties of Anthocyanins from Cornelian Cherry (Cornus mas L.) Fruits.

The cornelian cherry is a plant that annually provides fruits, drupe-type, ranging in color from yellow through pink, red, carmine, and almost black. Cornelian cherry bears abundant fruit in temperate climate conditions, which means that its dark-colored fruits can be treated as an excellent source of anthocyanins. After consuming, anthocyanins have a protective function in the human body. Raw fruit extracts and their pure isolates, rich in anthocyanins, have a wide spectrum of health-promoting properties. This review focuses on the health-promoting properties of anthocyanins from fruits of cornelian cherry, documented in research conducted in vitro, in vivo, and in humans. The results obtained so far confirm the beneficial effects of anthocyanins on the blood parameters, whose values are important in predicting and assessing the risk and progression of cardiovascular and metabolic diseases. A beneficial effect on molecular and histopathological changes in target organs such as the heart, brain, kidneys, and liver has also been demonstrated. Anthocyanins from cornelian cherry have a strong antioxidant effect, which explains their protective effects on organs and anticancer effects. Moreover, they have antiglycemic, antihyperlipidemic, anti-inflammatory, and antimicrobial properties. The work highlights the perspectives and directions of necessary research.

Hereditary Spastic Paraplegia Type 11-Clinical, Genetic and Neuroimaging Characteristics.

Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetically determined diseases, characterised by progressive spastic paraparesis of the lower limbs, associated with degeneration of the corticospinal tract and the posterior column of the spinal cord. HSP occurs worldwide and the estimated prevalence is about 1-10/100,000, depending on the geographic localisation. More than 70 genes responsible for HSP have been identified to date, and reports of new potentially pathogenic variants appear regularly. All possible patterns of inheritance (autosomal dominant, autosomal recessive, X-linked and mitochondrial) have been described in families of HSP patients. Among the autosomal recessive forms of HSP (AR-HSP), hereditary spastic paraplegia type 11 is the most common one. We present a patient with diagnosed HSP 11, with a typical clinical picture and characteristic features in additional diagnostic tests.

Cognitive Decline in Early and Premature Menopause.

Early and premature menopause, or premature ovarian insufficiency (POI), affects 1% of women under the age of 40 years. This paper reviews the main aspects of early and premature menopause and their impact on cognitive decline. Based on the literature, cognitive complaints are more common near menopause: a phase marked by a decrease in hormone levels, especially estrogen. A premature reduction in estrogen puts women at a higher risk for cardiovascular disease, parkinsonism, depression, osteoporosis, hypertension, weight gain, midlife diabetes, as well as cognitive disorders and dementia, such as Alzheimer's disease (AD). Experimental and epidemiological studies suggest that female sex hormones have long-lasting neuroprotective and anti-aging properties. Estrogens seem to prevent cognitive disorders arising from a cholinergic deficit in women and female animals in middle age premature menopause that affects the central nervous system (CNS) directly and indirectly, both transiently and in the long term, leads to cognitive impairment or even dementia, mainly due to the decrease in estrogen levels and comorbidity with cardiovascular risk factors, autoimmune diseases, and aging. Menopausal hormone therapy from menopause to the age of 60 years may provide a "window of opportunity" to reduce the risk of mild cognitive impairment (MCI) and AD in later life. Women with earlier menopause should be taken care of by various specialists such as gynecologists, endocrinologists, neurologists, and psychiatrists in order to maintain their mental health at the highest possible level.

Neuromyelitis Optica Spectrum Disorder Treatment-Current and Future Prospects.

Neuromyelitis optica (NMO) is an immune-mediated demyelinative disorder of the central nervous system affecting mainly the optical nerves and the spinal cord. The recurrent course of the disease, with exacerbations and incomplete remissions, causes accumulating disability, which has a profound impact upon patients' quality of life. The discovery of antibodies against aquaporin 4 (AQP4) and their leading role in NMO etiology and the formulation of diagnostic criteria have improved appropriate recognition of the disease. In recent years, there has been rapid progress in understanding the background of NMO, leading to an increasing range of treatment options. On the basis of a review of the relevant literature, the authors present currently available therapeutic strategies for NMO as well as ongoing research in this field, with reference to key points of immune-mediated processes involved in the background of the disease.

Migraine and Sleep-An Unexplained Association?

Migraine and sleep disorders are common chronic diseases in the general population, with significant negative social and economic impacts. The association between both of these phenomena has been observed by clinicians for years and is confirmed by many epidemiological studies. Despite this, the nature of this relationship is still not fully understood. In recent years, there has been rapid progress in understanding the common anatomical structures of and pathogenetic mechanism between sleep and migraine. Based on a literature review, the authors present the current view on this topic as well as ongoing research in this field, with reference to the key points of the biochemical and neurophysiological processes responsible for both these disorders. In the future, a better understanding of these mechanisms will significantly expand the range of treatment options.

Regulation of microRNA Expression in Sleep Disorders in Patients with Epilepsy.

The effects of epilepsy on sleep and the activating effects of sleep on seizures are well documented in the literature. To date, many sleep-related and awake-associated epilepsy syndromes have been described. The relationship between sleep and epilepsy has led to the recognition of polysomnographic testing as an important diagnostic tool in the diagnosis of epilepsy. The authors analyzed the available medical database in search of other markers that assess correlations between epilepsy and sleep. Studies pointing to microRNAs, whose abnormal expression may be common to epilepsy and sleep disorders, are promising. In recent years, the role of microRNAs in the pathogenesis of epilepsy and sleep disorders has been increasingly emphasized. MicroRNAs are a family of single-stranded, non-coding, endogenous regulatory molecules formed from double-stranded precursors. They are typically composed of 21-23 nucleotides, and their main role involves post-transcriptional downregulation of expression of numerous genes. Learning more about the role of microRNAs in the pathogenesis of sleep disorder epilepsy may result in its use as a biomarker in these disorders and application in therapy.

Seasonal variations in the occurrence of transient global amnesia (TGA).

BACKGROUND: Transient global amnesia (TGA) is a rare, benign condition characterised by a sudden deficit of anterograde and retrograde memory that usually lasts for a few hours and is not accompanied by other focal neurological symptoms or signs. Its aetiology is still unclear. Various events or activities may trigger TGA. Evidence of seasonal variations in the appearance of TGA is inconsistent. METHODS: We retrospectively analysed the medical history of 114 adult patients with diagnosed TGA, hospitalised at two neurology departments in Wroclaw from 2008 to 2014. We reviewed risk factors, trigger points, and occurrence in each month of the year in our patient population. RESULTS: Over this seven-year period, 114 patients were diagnosed with TGA. The annual occurrence ranged from 13 to 22 hospitalisations. The mean age of the patients was 64 years. There were 36 TGA events in men and 78 in women. TGA occurred most frequently in spring (36%) and summer (30%), with the incidence peaking during March. CONCLUSIONS: Our findings suggest that there is a relationship between the season of the year and the probability of TGA.

Visual and somatosensory phenomena following cerebral venous infarction.

BACKGROUND: The most frequent clinical presentation of occipital or visual tract lesion is hemianopsia or quadrantanopsia. However, damage to the primary or secondary visual cortex can also manifest as visual hallucinations (photopsiae or complex phenomena). We report visual and somatosensory phenomena following cerebral venous infarction based on a study of a patient with a history of recent head injury. CASE PRESENTATION: We report a 61-year-old man with a history of recent head injury presented with a headache of two weeks duration. He was complaining of transient visual abnormalities, which he described as impaired ability to recognize faces, dark spots moving in the visual field and distorted contours of an objects. Clinical examination showed a balance disorder with no evidence of visual deficit. During further observation the patient started to experience more complex visual and sensory phenomena of: waving of the ceiling, clouds that he could form and feel, he had an impression of incorrect sizes of given objects, he could see a nonexistent pack of cigarettes and the character from the arcade game Pac-Man "eating" an existing drip stand. CONCLUSIONS: The patient mentioned above possessing simple and complex visual and somatosensory hallucinations and illusions in the course of venous stroke. A possible mechanism involves irritation of cortical centers responsible for visual processing.

The Usefulness of the TOAST Classification and Prognostic Significance of Pyramidal Symptoms During the Acute Phase of Cerebellar Ischemic Stroke.

Cerebellar stroke is a rare condition with very nonspecific clinical features. The symptoms in the acute phase could imitate acute peripheral vestibular disorders or a brainstem lesion. The aim of this study was to assess the usefulness of the Trial of Org 10172 in Acute Stroke Treatment (TOAST) classification in cerebellar stroke and the impact of clinical features on the prognosis. We retrospectively analyzed 107 patients with diagnosed ischemic cerebellar infarction. We studied the clinical features and compared them based on the location of the ischemic lesion and its distribution in the posterior interior cerebellar artery (PICA), superior cerebellar artery (SCA), and anterior inferior cerebellar artery (AICA) territories. According to the TOAST classification, stroke was more prevalent in atrial fibrillation (26/107) and when the lesion was in the PICA territory (39/107). Pyramidal signs occurred in 29/107 of patients and were more prevalent when the lesion was distributed in more than two vascular regions (p = 0.00640). Mortality was higher among patients with ischemic lesion caused by cardiac sources (p = 0.00094) and with pyramidal signs (p = 0.00640). The TOAST classification is less useful in assessing supratentorial ischemic infarcts. Cardioembolic etiology, location of the ischemic lesion, and pyramidal signs support a negative prognosis.

[Cognitive impairment in multiple sclerosis]. / Zaburzenia funkcji poznawczych w stwardnieniu rozsianym.

Cognitive impairment affects 40-70% of multiple sclerosis patients. It occurs in all stages of the disease and reduces quality of life. Cognitive areas mainly involved are memory, information-processing speed, attention and executive functions. Cognitive performance can be affected by other factors, including depression, fatigue, disease course and medication. Advanced neuroimaging has helped to increase our knowledge about structural and functional mechanisms responsible for cognitive decline in multiple sclerosis. Early detection of cognitive impairment is essential to provide appropriate therapeutic intervention.

Visual Snow Syndrome in Patient with Migraine: Case Report and Literature Review.

Visual snow syndrome (VSS) is a rarely diagnosed neurological phenomenon. It is a visual disorder characterised by the presence of numerous white, black, or translucent dots in the visual field, resembling the 'snow' of an analogue TV set experiencing reception interference. According to The International Classification of Headache Disorders, 3rd edition, visual snow is defined as a pattern of continuous small dots across the visual field lasting >3 months and accompanied by at least two of the following four additional symptoms: palinopsia, increased entoptic phenomena, photophobia, and nyctalopia. These complaints are not consistent with a typical migraine with visual aura and cannot be better explained by another disorder. The authors present the case of a 39-year-old woman who was diagnosed with VSS. The symptoms appeared after a migraine attack and had not alleviated. The patient reported a sensation of constant 'TV screen snow'. A neurological examination found no signs of focal damage to the nervous system. The results of the ophthalmological examination, MRI of the brain with contrast, MRI of the eye sockets, and EEG were normal. VSS is a phenomenon that is still not fully understood, different from migraine aura and associated with a number of additional symptoms. VSS is very difficult to treat. In this case, a lot of drugs were used without improvement. Further research must be conducted to determine the best treatment options for these patients.

Endocytosis and Alzheimer's disease.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder and is the most common cause of dementia. The pathogenesis of AD still remains unclear, including two main hypotheses: amyloid cascade and tau hyperphosphorylation. The hallmark neuropathological changes of AD are extracellular deposits of amyloid-ß (Aß) plaques and intracellular neurofibrillary tangles (NFTs). Endocytosis plays an important role in a number of cellular processes including communication with the extracellular environment, nutrient uptake, and signaling by the cell surface receptors. Based on the results of genetic and biochemical studies, there is a link between neuronal endosomal function and AD pathology. Taking this into account, we can state that in the results of previous research, endolysosomal abnormality is an important cause of neuronal lesions in the brain. Endocytosis is a central pathway involved in the regulation of the degradation of amyloidogenic components. The results of the studies suggest that a correlation between alteration in the endocytosis process and associated protein expression progresses AD. In this article, we discuss the current knowledge about endosomal abnormalities in AD.

Mitochondrial disorders leading to Alzheimer's disease-perspectives of diagnosis and treatment.

Alzheimer's disease (AD) is a neurodegenerative disorder and the most common cause of dementia globally. The pathogenesis of AD remains still unclear. The three main features of AD are extracellular deposits of amyloid beta (Aß) plaque, accumulation of abnormal formation hyper-phosphorylated tau protein, and neuronal loss. Mitochondrial impairment plays an important role in the pathogenesis of AD. There are problems with decreased activity of multiple complexes, disturbed mitochondrial fusion, and fission or formation of reactive oxygen species (ROS). Moreover, mitochondrial transport is impaired in AD. Mouse models in many research show disruptions in anterograde and retrograde transport. Both mitochondrial transportation and network impairment have a huge impact on synapse loss and, as a result, cognitive impairment. One of the very serious problems in AD is also disruption of insulin signaling which impairs mitochondrial Aß removal.Discovering precise mechanisms leading to AD enables us to find new treatment possibilities. Recent studies indicate the positive influence of metformin or antioxidants such as MitoQ, SS-31, SkQ, MitoApo, MitoTEMPO, and MitoVitE on mitochondrial functioning and hence prevent cognitive decline. Impairments in mitochondrial fission may be treated with mitochondrial division inhibitor-1 or ceramide.

[Ballism as a rare form of hyperkinetic movement disorder]. / Ruchy balistyczne jako rzadka postac pozapiramidowych zaburzen ruchowych.

Hemiballism is a very rare movement disorderthat presents with involuntary unilateral flinging movements of the limbs. The movements are often violent and have wide amplitudes of motion. Hemichorea and hemiballism share pathophysiology and etiology, and commonly coexist in the same patient. Hemiballism was recognised as almost pathognomonic of a lesion in the contralateral subthalamic nucleus (body of Luys). Cerebrovascular diseases remain the most common etiology of ballistic movements. Interestingly, nowadays nonketotic hyperglycemiain elderly patients with diabetes mellitus is considered to be the second most common reported cause. Other more rare causes of hemiballism include encephalitis, cerebral toxoplasmosis (AIDS), multiple sclerosis, brain tumor (primary, metastatic) and metabolic disturbances. Prognosis is favorable for most patients with spontaneous resolution of clinical symptoms and dopamine receptor blocking drugs are highly effective.

Beliefs about Medicines and the Level of Intentional Non-Adherence to Treatment among Patients with Multiple Sclerosis Treated with First-Line Drugs.

INTRODUCTION: Multiple sclerosis (MS) is a chronic inflammatory, demyelinating and neurodegenerative disease of the central nervous system. MS has no curable disease but drug modifying therapy (DMT) can delay the long-term disability progression of the disease. The effectiveness of MS treatment depends on the patient's adherence to therapy. AIM: This study evaluated the level of intentional non-adherence and the relationship between beliefs about medication and the level of intentional non-adherence to treatment of patients with multiple sclerosis. MATERIAL AND METHODS: A group of 146 patients with relapsing-remitting MS were included. To assess different aspect of adherence, the Intentional Non-Adherence Scale (INAS) was used. For evaluating patients' beliefs and opinions regarding medication, the Beliefs about Medicines Questionnaire (BMQ) was used. RESULTS: The mean total INAS score was 51.41 ± 27.83 points. Patients were most concerned about the necessity to take medication and least concerned about the harm caused by medication. The overuse and harm domains of the BMQ were significantly correlated with INAS scores (p < 0.05). CONCLUSIONS: Independent determinant of intentional non-adherence was overuse.

The Effect of Transcranial Direct Current Stimulation (tDCS) on Cocaine Addiction: A Narrative Review.

Cocaine addiction is a significant problem worldwide. The development of addiction involves a reward system, which consists of certain brain regions like the ventral tegmental area, nucleus accumbens, and prefrontal cortex. Currently, there are no approved medications for treating cocaine dependence, so researchers are actively searching for effective treatments that can impact the brain. One potential treatment under investigation is transcranial direct current stimulation (tDCS), a non-invasive method of stimulating the brain to modulate its activity. In this review, we explore the use of tDCS in treating cocaine addiction. We found nine relevant articles via a literature search, and the results indicate that applying tDCS to the right dorsolateral prefrontal cortex (DLPFC) holds promise for reducing drug cravings in individuals with cocaine addiction. The review also discusses the possible mechanisms by which tDCS works and provides recommendations for future research in this field.

Exploring the Relationship between Antioxidant Enzymes, Oxidative Stress Markers, and Clinical Profile in Relapsing-Remitting Multiple Sclerosis.

We aimed to investigate the extent of alterations in the pro/antioxidant balance in the blood of patients with relapsing-remitting multiple sclerosis (RRMS) in relation to drug-modified therapy, gender, disability score, and disease duration. 161 patients (67 men and 94 women, aged 24-69 years, median 43.0) and 29 healthy individuals (9 men and 20 women, aged 25-68 years, median 41.0) were included in the study. We measured the activity of superoxide dismutase (SOD), glutathione peroxidase (GPx), and catalase (CAT) as well as the concentration of interleukin-6 (IL-6), lipid peroxidation parameters (LPO), total oxidant status (TOS), and total antioxidant capacity (TAS). The activity of SOD did not show any significant differences between patients with RRMS and the control group in our study. In contrast, significant decreased GPx activity and increased CAT activity was observed in the blood of patients with RRMS compared to the control group. Additionally, the activity of CAT was influenced by gender and the use of disease-modifying therapies. Disease-modifying therapies also affected the concentration of TOS, TAS, and LPO. Our studies indicated that enhancing GPx activity may be more beneficial to providing potential therapeutic strategies aimed at modulating antioxidant defenses to mitigate oxidative stress in this disease.

Case report: Unusual patient with dermatomyositis associated with SARS-CoV-2 infection.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak is a major challenge for clinicians. SARS-CoV-2 infection results in coronavirus disease 2019 (COVID-19), and it is best known for its respiratory symptoms. It can also result in several extrapulmonary manifestations such as neurological complications potentially experienced during the course of COVID-19. The association of dermatomyositis (DM) with COVID-19 pathogenesis has not been well-studied. This study aimed to present a previously healthy 37-year-old man, a soldier by profession, with symptoms of DM on the 4th day from the onset of COVID-19. The patient presented DM symptoms with both skin and muscle manifestations. The patient suffered from cough, fever, and fatigue to begin with, and reverse-transcription polymerase chain reaction (RT-PCR) reported positive for SARS-CoV-2 infection. The laboratory findings showed, intra alia, elevated muscle enzymes CK 8253 U/l (N: <145 U/l), a positive test for myositis-specific autoantibodies (anti-Mi-2), electrodiagnostic tests exhibited features of myopathy, with the presence of muscle and skin symptoms. The patient improved with corticosteroids and immunosuppressive agent therapy. In summary, the association between COVID-19 and the development of multi-system autoimmune disorders such as DM remains unclear. Nevertheless, viral infections such as SARS-CoV-2 may likely serve as a trigger.

Coping of Chronically-Ill Patients during the COVID-19 Pandemic: Comparison between Four Groups.

In many countries, the COVID-19 pandemic led to healthcare reorganization limiting access to diagnostic or therapeutic procedures for chronically-ill patients. In this article, we describe the psychological consequences and coping strategies of several groups of chronically-ill patients. During the cross-sectional survey conducted in 2020, we enrolled 398 patients with four different chronic conditions (psoriasis, multiple sclerosis, and patients who have undergone a kidney transplant or received dialysis). The study sample was examined regarding the experienced stress levels (Perceived Stress Scale) and coping strategies (Brief-COPE). All four groups of patients most commonly declared using problem-focused coping strategies and least commonly reported the use of avoidant coping. Higher levels of perceived stress strongly correlated with self-blaming. The participants who declared previous psychiatric treatment or psychotherapy were more likely to use self-blaming, behavioral disengagement, substance use, and avoidant coping, while previous psychotherapy additionally correlated with emotion-focused coping. Group comparison identifies patients with a chronic neurological disease, such as multiple sclerosis, at higher risk of a less beneficial coping profile than kidney transplant recipients. Further focus on education and early interventions in at-risk individuals is needed, and widely targeted mental health programs are indicated in order to improve the mental health of patients suffering from chronic diseases.