Paroxysmal Disorders Research Articles

The trend in neurological diseases in Moscow adolescents, before and after the COVID-19 pandemic

Introduction. During the pandemic the stress level among adolescents has increased significantly due to the uncertainty of the future, awareness for the health of their friends and family, and changes in the educational process and daily routine. In addition, increased time spent indoors, lack of physical activity, poor nutrition and sleep disorders also contribute to the deterioration of the nervous system of adolescents. It is necessary to conduct additional research and monitoring of the incidence of the nervous system among adolescents in the post-pandemic period to assess and prevent possible negative consequences on their health. The purpose is to analyze the trend in the incidence of diseases of the nervous system in adolescents, including gender differences, using the example of Moscow over the period before and after the Covid-19 pandemic. Materials and methods. The following methods are applied: summary and grouping, calculation of relative and average values, dynamics series, distribution indices, analysis of statistical aggregates. The data of the federal statistical observation form No. 12 “Information on the number of diseases registered in patients living in the service area of a medical institution” for 2016–2023 was used. Results. Due to the COVID-19 pandemic in Moscow, there was an increase in the incidence during the “post-covid” period. In 2021–2023, the gain in the incidence of disorders of the autonomic nervous system (ANS) is twofold higher than over the five-year “pre-covid” period. Research limitations. The study has regional (Moscow) limitations. Conclusions. The average Moscow rates of the morbidity of the nervous system, while remaining lower than the Russian ones, are approaching them in trend. There were no significant changes in the difference between diseases in boys and girls, but in terms of episodic and paroxysmal disorders, the trend in convergence of indices was noted.

Tortícolis en lactante asociada a infección por citomegalovirus: ¿es un hallazgo casual?

Benign paroxysmal torticollis is a non-epileptic paroxysmal disorder that begins in the first year of life. It is characterized by recurrent episodes of head tilting lasting from hours to days. These episodes can be accompanied by irritability, pallor, nausea, vomiting, and ataxia, while the patient remains asymptomatic between episodes. We present the case of an infant with several episodes of lateral neck deviation lasting a few days each, without other accompanying symptoms, and asymptomatic between episodes. Magnetic resonance imaging was performed, ruling out a space-occupying process but revealing bilateral cervical adenopathy. Further testing detected positive IgG and IgM for Cytomegalovirus, leading to a diagnosis of Cytomegalovirus infection and benign paroxysmal torticollis. Both conditions are currently resolving and appear to be unrelated.

Rare Earth Element Content in Hair Samples of Children Living in the Vicinity of the Kola Peninsula Mining Site and Nervous System Diseases.

The aim of this study is to assess the rare earth element (REE) content in hair samples of children living in Lovozero village, near an REE mining site, and the possible effects of REEs on the prevalence of nervous system diseases in Lovozersky District (Murmansk region, Kola Peninsula). Fifty-three school-age children were recruited for the analysis of REE content in hair samples. REE (Y, La, Ce, Pr, Nd, Sm, Eu, Gd, Tb, Dy, Ho, Er, Tm, Yb, and Lu) content was estimated by means of inductively coupled plasma mass spectrometry (ICP-MS). The analysis of REE content in the hair of children living in Russia, Kazakhstan, and China indicated REE intake from the environment. The possible contribution of REEs to nervous system disorders is supported by the link between the REE content in hair samples of children living near REE mining areas (China) and the manifestation of cognitive disorders in these children. It is also found that the prevalence of nervous system diseases in children aged 15-17 years is higher in Lovozersky District compared to the other districts of the Murmansk region. In this paper, the possible contribution of REEs to the prevalence of episodic paroxysmal disorders (G40-G47), cerebral palsy (G80-G83), and epilepsy and status epilepticus (G40-G41) is discussed.

Assessment of the diagnostic utility of the electroencephalogram in pediatric emergencies

IntroductionWe analyze the diagnostic utility of urgent EEG (electroencephalogram) performed in children under 16 years of age in our center. Material and methodsDescriptive, retrospective, observational study of consecutive patients from 0 to 16 years of age, who underwent an urgent EEG for any reason, from January to December 2022. ResultsOf the 388 patients, 70 were children: 37 (52.85%) women, and 33 (47.14%) men. Average age: 6.27 ± 4.809. Of the 70 patients, 6 (8.57%) had previous epilepsy. Reasons for consultation: 17 febrile seizures, 10 first focal seizures, 10 first TCG seizures, 6 paroxysmal episodes, 6 absences, 3 myoclonus of extremities, 3 syncope, 2 SE, 2 visual alterations, 2 low level of consciousness, 2 cyanosis, 2 suspected meningitis or encephalitis, 1 choking, 1 atypical headache, 1 chorea, 1 presyncope, 1 language delay. Of the 70 patients, 47 had a normal EEG (67.14%). Of the 47 patients with a normal EEG, 10 were diagnosed with epilepsy, and 3 of them began receiving antiepileptic treatment upon discharge. None of the patients with suspected syncope or paroxysmal disorder (17 patients, 24.28%) had EEG abnormalities. Of the 17 patients with atypical febrile seizures, 3 had EEG abnormalities. ConclusionsA third of the EEG records performed in the Emergency Department showed alterations, probably due to the time taken. Almost half of the patients with suspected epilepsy or EE showed EEG abnormalities, which confirmed the diagnosis in these cases and encouraged the clinician to start drug treatment. No case with a high suspicion of epilepsy was dismissed due to the normality of the EEG recording in our series. No patient diagnosed with syncope or paroxysmal disorder had EEG abnormalities. Nearly a quarter of patients with atypical febrile seizures showed EEG abnormalities. We barely register cases of status epilepticus, probably due to the degree of complexity of our center.

Estimating the Acute Health Effects of Smoke Exposure from an Urban Factory Fire Accident: A Case Study of a Tire Factory Fire in Korea.

A major industrial fire accident occurred in a tire manufacturing factory in Daejeon, Korea, on 12 March 2023 and lasted for 3 d, generating air pollutant emissions. Although evidence regarding the health effects of urban fires is limited, residents near tire factory may have experienced health hazards due to smoke exposure from fire plumes. Capitalizing on the timing of this fire incident as a natural experiment, we estimated the attributable excess air pollution exposure and associated disease development among residents living near the tire factory. We used the generalized synthetic control method to estimate air pollution exposure and health burden attributable to the accident among residents living in smoke-exposed districts. Based on satellite images and air pollution monitoring results, three administrative districts (within from the factory) were defined as smoke-exposed, and the other 79 districts of Daejeon were defined as controls. Among the 11 monitoring stations in Daejeon, the station located from the factory was used to estimate excess air pollution exposure (, , , , , and CO) for residents in the exposed districts. The number of daily district-level disease-specific incidence cases were acquired from the National Health Insurance Database and used to estimate excess health burden resulting from the fire. During the first week following the factory fire, residents of exposed districts had an estimated excess exposure to 125.2 [95% confidence interval (CI): 44.9, 156.7] of , 50.4 (95% CI: 12.7, 99.8) ppb of , and 32.0 (95% CI: 21.0, 35.9) ppb of . We also found an average increase in the incidence cases of other diseases of upper respiratory tract [20.6 persons (95% CI: 6.2, 37.4)], lung disease due to external agents [2.5 persons (95% CI: 2.1, 3.3)], urticaria and erythema [5.9 persons (95% CI: , 11.2)], and episodic and paroxysmal disorders [8.5 persons (95% CI: 3.7, 13.4)] in exposed districts. Excessive air pollution exposure and disease incidence were identified among residents living close to the tire factory. Preventive measures, such as a warning system, to avoid health impacts to people breathing fire-related pollution may be beneficial for communities impacted by such events. https://doi.org/10.1289/EHP14115.

Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome

BackgroundSince the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits. MethodsWe conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases. ResultsAmong 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion. ConclusionsIn Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.

Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.

Paroxysmal movement disorders are common in Glut1 deficiency syndrome (Glut1DS). Not all patients respond to or tolerate ketogenic diets. The objective was to evaluate the effectiveness and safety of triheptanoin in reducing the frequency of disabling movement disorders in patients with Glut1DS not receiving a ketogenic diet. UX007G-CL301 was a randomized, double-blind, placebo-controlled, phase 3 crossover study. After a 6-week run-in, eligible patients were randomized 1:1 to the first sequence (triheptanoin/placebo or placebo/triheptanoin) titration plus maintenance, followed by washout and the opposite sequence titration plus maintenance. The placebo (safflower oil) matched the appearance, taste, and smell of triheptanoin. Open-label triheptanoin was administered in the extension. The frequency of disabling paroxysmal movement disorder events per 4 weeks (recorded by diary during maintenance; primary endpoint) was assessed by Wilcoxon rank-sum test. Forty-three patients (children, n = 16; adults, n = 27) were randomized and treated. There was no difference between triheptanoin and placebo in the mean (interquartile range) number of disabling paroxysmal movement disorder events (14.3 [4.7-38.3] vs. 11.8; [3.2-28.7]; Hodges-Lehmann estimated median difference: 1.46; 95% confidence interval, -1.12 to 4.36; P = 0.2684). Treatment-emergent adverse events were mild/moderate in severity and included diarrhea, vomiting, upper abdominal pain, headache, and nausea. Two patients discontinued the study because of non-serious adverse events that were predominantly gastrointestinal. The study was closed early during the open-label extension because of lack of effectiveness. Seven patients continued to receive triheptanoin compassionately. There were no significant differences between the triheptanoin and placebo groups in the frequency of disabling movement disorder events during the double-blind maintenance period. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

The Impact of Self-Care Recommendations with and without Tilt-Training on Quality of Life in Children and Adolescents with Vasovagal Syncope: A Randomized Clinical Trial.

Syncope is among the most common paroxysmal disorders in children and adolescents. Vasovagal syncope is the most common syncope in children and adolescents. The aim of this study was to evaluate the impact of self-care recommendations with and without tilt training on the Quality of Life (QoL) of children and adolescents with syncope. This randomized controlled clinical trial was conducted in Isfahan, Iran, from April 2017 to June 2021 and included 120 patients with syncope. Eligible children and adolescents (aged 6-18 years) who met inclusion criteria were recruited by the simple sampling method and then assigned randomly into two groups. The intervention group (n = 60) received routine self-care recommendations such as dietary advice, behaviors to prevent syncope, and counter-pressure maneuvers along with tilt training, while the control group (n = 60) received self-care recommendations without tilt training. The education training included two face-to-face sessions, each of which lasted for 45-60 min. Then, both groups were followed up by telephone (once a month) for six months. A researcher-made self-care questionnaire and Pediatric Quality of Life Inventory (PedsQL™ 4.0) were completed for both groups before and after the intervention. Data were analyzed using descriptive and inferential statistical methods. The Wilcoxon test results showed a significant difference in the mean scores of physical functioning, emotional functioning, social functioning, school functioning, psychosocial functioning, understanding of health, and total QoL in the intervention and control groups before and after the intervention (p < 0.05). Also, the paired t-test results showed a significant difference in the mean scores of self-care domains and total self-care in the intervention and control groups before and after the intervention (p < 0.05). Self-care recommendations with and without tilt training can improve QoL in children and adolescents with syncope.

The Spectrum of Neurological Pathologies at the Neurology Unit of the Jean Paul II Hospital in Conakry

Introduction: Neurological diseases are defined by lesional damage to the brain, spinal cord, peripheral nerves or muscles. They are multiple and varied. Objective: Determine the profile demographic, clinical and evolution of patients hospitalized in the neurology unit of the John Paul II hospital. Material and Methods: This was a prospective descriptive study lasting 1 year carried out at the Neurology unit of the Jean Paul II hospital, in the suburbs of the capital Conakry. All medical records were reviewed by a neurologist and neurological diagnoses classified according to ICD-10. Results: Out of 215 patients received, 182 (84.7%) received a neurological diagnosis. The average age of the patients was 57.7 ± 17.1 years with a male predominance of 53.4%. The most frequent reasons for consultations were motor deficit (85.16%) and language disorders (58.24 %). According to the ICD-10 classification, episodic and paroxysmal disorders (EME, epilepsy, cerebrovascular disorders) were observed in 82% of patients, followed by inflammatory diseases of the central nervous system in 7.3% of patients. Conclusion: Neurological pathologies constitute a major public health problem and represent the leading cause of years lived with disability worldwide.

Consultation Requests and Satisfaction with a Telehealth Network for Epilepsy: Longitudinal Analysis of the Epilepsy Network Hessen Evaluation.

Background: Telemedicine improves access to specialized medical expertise, as required for paroxysmal disorders. The Epilepsy Network Hessen Evaluation (ENHE) is a pilot cross-sectoral teleconsultation network connecting primary neurologists and pediatricians with epilepsy centers in Hessen, a federal German state. Methods: We prospectively and longitudinally evaluated telehealthcare in the ENHE. Participating physicians rated each consultation for satisfaction and impact on further management. The survey was administered at each consultation and 3 months later. Results: We analyzed 129 consultations involving 114 adult and pediatric patients. Their mean age was 34 years (standard deviation: 26, range: 0.1-91 years), 48% were female, and 34% were children and adolescents. The most common consultation requests were co-evaluation of an electroencephalogram (electroencephalogram [EEG]; 76%) and therapeutic (33%) and differential diagnosis (24%) concerns. Physicians transmitted one paraclinical examination on average (range: 1-4), predominantly EEG (85%), followed by magnetic resonance imaging (17%) and written records (9%). Response rates were 72% for the initial and 67% for the follow-up survey. Across respondents, 99% (n = 92) were satisfied with the ENHE. Overall, 80% of the consultations contributed to the diagnosis, and 90% were considered helpful for treatment, influencing it in 71% of cases. Seizure frequency had decreased more often (96%) than increased (4%) at 3 months. The initial diagnosis was confirmed in 78% of patients. Discussion: In this pilot teleconsultation network for paroxysmal disorders, diagnostic and therapeutic advice was perceived as helpful. Clinical outcomes were largely positive, suggesting tele-epileptology is viable for paroxysmal (seizure) disorders.

Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia

KCNA1 is the coding gene for Kv1.1 voltage-gated potassium-channel α subunit. Three variants of KCNA1 have been reported to manifest as paroxysmal kinesigenic dyskinesia (PKD), but the correlation between them remains unclear due to the phenotypic complexity of KCNA1 variants as well as the rarity of PKD cases. Using the whole exome sequencing followed by Sanger sequencing, we screen for potential pathogenic KCNA1 variants in patients clinically diagnosed with paroxysmal movement disorders and identify three previously unreported missense variants of KCNA1 in three unrelated Chinese families. The proband of one family (c.496G>A, p.A166T) manifests as episodic ataxia type 1, and the other two (c.877G>A, p.V293I and c.1112C>A, p.T371A) manifest as PKD. The pathogenicity of these variants is confirmed by functional studies, suggesting that p.A166T and p.T371A cause a loss-of-function of the channel, while p.V293I leads to a gain-of-function with the property of voltage-dependent gating and activation kinetic affected. By reviewing the locations of PKD-manifested KCNA1 variants in Kv1.1 protein, we find that these variants tend to cluster around the pore domain, which is similar to epilepsy. Thus, our study strengthens the correlation between KCNA1 variants and PKD and provides more information on genotype–phenotype correlations of KCNA1 channelopathy.

The multimodal psychotherapy of the anxiety disorders patients

IntroductionAnxiety disorders are a common type of mental pathology with severe social and medical consequences in the lives of people suffering from them. General population studies indicate their prevalence ranges from 1.7% to 4.7% of the population. According to data from a US national study among the population aged 15 to 54 years, only 2.7% and 4.7%, respectively, suffered from panic disorder, one of the common types of anxiety disorders, during their lifetime. At the same time, the features of the emotional structure of anxiety disorders and the effectiveness of their psychotherapy among the population of low-income countries, especially in countries in a situation of prolonged bloody war and environmental disaster, remain poorly studied.ObjectivesThe purpose of the study was to identify the features of the emotional symptomatic structure of anxiety disorder and evaluate the effectiveness of their psychotherapeutic correction. For this purpose, 180 patients with anxiety disorders who were hospitalized in Ukraine (during the period 2022 - 2023) were examined.Methods The basic method was group psychotherapy with elements of rational, positive, suggestive and family psychotherapy. Regarding emotional disorders, cognitive behavioural therapy (CBT) was used for phobic-depressive and anxiety-depressive syndromes.ResultsMost patients experienced a decrease in the level of general anxiety and internal anxiety. Almost no spontaneous occurrence of fear was observed. During active interviewing, patients stated that their previous anxieties and fears had lost their relevance and acquired clear emotional overtones. There was also a significant decrease in the symptoms of the depressive cycle, and patients began to feel joy and optimism.Conclusions To correct emotional dysfunction in patients with episodic paroxysmal disorders, generalized anxiety disorders and mixed anxiety-depressive disorders, it is optimal to use a system of psychotherapeutic correction built on stepwise and multimodal principles.Disclosure of InterestNone Declared

Signatures of migraine aura in high-density-EEG

ObjectiveCortical spreading depolarization is highly conserved among the species. It is easily detectable in direct cortical surface recordings and has been recorded in the cortex of humans with severe neurological disease. It is considered the pathophysiological correlate of human migraine aura, but direct electrophysiological evidence is still missing. As signatures of cortical spreading depolarization have been recognized in scalp EEG, we investigated typical spontaneous migraine aura, using full band high-density EEG (HD-EEG). MethodsIn this prospective study, patients with migraine with aura were investigated during spontaneous migraine aura and interictally. Time compressed HD-EEG were analyzed for the presence of cortical spreading depolarization characterized by (a) slow potential changes below 0.05 Hz, (b) suppression of faster activity from 0.5 Hz − 45 Hz (c) spreading of these changes to neighboring regions during the aura phase. Further, topographical changes in alpha-power spectral density (8–14 Hz) during aura were analyzed. ResultsIn total, 26 HD-EEGs were recorded in patients with migraine with aura, thereof 10 HD-EEGs during aura. Eight HD-EEGs were recorded in the same subject. During aura, no slow potentials were recorded, but alpha-power was significantly decreased in parieto-occipito-temporal location on the hemisphere contralateral to visual aura, lasting into the headache phase. Interictal alpha-power in patients with migraine with aura did not differ significantly from age- and sex-matched healthy controls. ConclusionsUnequivocal signatures of spreading depolarization were not recorded with EEG on the intact scalp in migraine. The decrease in alpha-power contralateral to predominant visual symptoms is consistent with focal depression of spontaneous brain activity as a consequence of cortical spreading depolarization but is not specific thereof. SignificanceCortical spreading depolarization is relevant in migraine, other paroxysmal neurological disorders and neurointensive care.

The effectiveness of the original anticonvulsant Galodif® — a GABAA receptor modulator for alcohol withdrawal syndrome

BACKGROUND: The development of new drugs to improve the effectiveness of treatment and rehabilitation programs for patients suffering from addiction diseases, which are non-addictive and have a stimulating effect on detoxification processes in the body, can increase the effectiveness of therapy and reduce the cost of treatment. A deficiency of GABAergic inhibition in brain structures plays a leading role in the occurrence of paroxysmalness. The innovative anticonvulsant Galodif® (1-[(3-chlorophenyl)(phenyl)methyl]urea), a GABAA receptor modulator, has low toxicity and hepatoprotective properties, which allows it to be recommended for use in the treatment of patients with alcohol dependence.&#x0D; AIM: The aim of this study is to evaluation of the effectiveness of the use of the anticonvulsant drug galodif1 in complex therapy in patients with alcohol dependence with compulsive and paroxysmal disorders with pathological craving for alcohol when withdrawing of alcohol.&#x0D; MATERIALS AND METHODS: A limited open-type clinical study of the therapeutic effectiveness of the innovative anticonvulsant galodif1 included 128 male patients (average age 38.3 ± 8.9 years) with a diagnosis of “Mental and behavioral disorders as a result of alcohol consumption, dependence syndrome” (F10.232) and “Mental and behavioral disorders as a result of alcohol consumption, withdrawal states” (F10.302). 68 patients received Galodif® 300 mg per day as an anticonvulsant for 21 days. 60 patients made up the comparison group, receiving carbamazepine at a dose of 400 mg per day.&#x0D; RESULTS: The use of the anticonvulsant Galodif® in complex therapy of patients revealed: normothymoleptic activity of the drug; when assessing depression on the Hamilton Depression Rating Scale (HDRS), the average total score decreased from 28.3 ± 1.3 to 5.7 ± 1.9, and a reduction in unmotivated fear and anxiety was noted; vegetative stabilizing effect with a sympathicolytic component with normalization of heart rate; reduction of headaches; weakening or disappearance of pathological desire during withdrawal syndrome in 88% of cases, in the post-withdrawal state — in 57% of cases; taking the drug did not cause any unwanted side effects.&#x0D; CONCLUSIONS: The use of the anticonvulsant Galodif®, which modulates GABAA receptors, has low toxicity and detoxification properties and does not cause side effects, has been proposed as one of the modern pharmacotherapeutic approaches in the treatment of patients with alcohol dependence.

Unlocking endothelial barrier restoration: FX06 in systemic capillary leak syndrome and beyond

Increased vascular permeability is a prevalent feature in a wide spectrum of clinical conditions, but no effective treatments to restore the endothelial barrier are available. Idiopathic systemic capillary leak syndrome (ISCLS) is a life-threatening Paroxysmal Permeability Disorder characterized by abrupt, massive plasma extravasation. This condition serves as a robust model for investigating therapeutic approaches targeting interendothelial junctions. We conducted a single-center, interventional in vitro study at the Referral Center for ISCLS in Italy, involving four diagnosed ISCLS patients, aiming at investigating the effects of FX06, a Bβ15–42 fibrin-derived peptide binding to VE-Cadherin, on endothelial barrier exposed to intercritical and acute ISCLS sera. The Transwell Permeability Assay was used to assess the permeability of human umbilical vein endothelial cells (HUVECs) exposed to ISCLS sera with or without FX06 (50 µg/ml). Acute ISCLS serum was also tested in a three-dimensional microfluidic device. Nitric oxide (NO), VE-Cadherin localization, and cytoskeletal organization were also assessed. In two and three-dimensional systems, ISCLS sera increased endothelial permeability, with a more pronounced effect for acute sera. Furthermore, acute sera altered VE-Cadherin localization and cytoskeletal organization. NO levels remained unchanged. FX06 restored the endothelial barrier function by influencing cellular localization rather than VE-Cadherin levels. In conclusion, FX06 prevents and reverts the hyperpermeability induced by ISCLS sera. These preliminary yet promising results provide initial evidence of the in vitro efficacy of a drug targeting the underlying pathophysiological mechanisms of ISCLS. Moreover, this approach may hold potential for addressing hyperpermeability in a spectrum of clinical conditions beyond ISCLS.

Human pain channelopathies.

There has been significant progress in our understanding of the molecular basis by which nociceptors transduce and transmit noxious (tissue damaging) stimuli. This is dependent on ion channels, many of which are selectively expressed in nociceptors. Mutations in such proteins have recently been linked to inherited pain disorders in humans. An exemplar is the voltage-gated sodium channel (VGSC) NaV1.7. Loss of function mutations in NaV1.7 result in congenital inability to experience pain while gain-of-function mutations can cause a number of distinct neuropathic pain disorders, including erythromelalgia, paroxysmal extreme pain disorder, and small-fiber neuropathy. Furthermore, variants in the VGSCs 1.8 and 1.9 have also been linked to human pain disorders. There is a correlation between the impact of mutations on the biophysical properties of the ion channel and the severity of the clinical phenotype. Pain channelopathies are not restricted to VGSCs: a mutation in the ligand-gated ion channel TRPA1, (which responds to environmental irritants) causes a familial episodic pain disorder. Ion channel variants have also been linked to more common neuropathic pain disorders such as painful diabetic neuropathy. Not only do these ion channels present targets for novel analgesics, but stratification based on genotype may improve treatment selection of existing analgesics.

Migraine and Epilepsy in Children: A Narrative Review of Comorbidity and Similar Treatment Option.

Migraine and epilepsy belong to the category of chronic paroxysmal neurological disorders and share numerous clinical features, as well as potential treatment options. This narrative review emphasizes the similarities between pediatric migraine and epilepsy, exploring epidemiology, pathophysiology, genetics, clinical presentation, and pharmacology. Although various syndromes exhibit symptoms common to both conditions, further research is needed to clarify the underlying pathophysiological and genetic connections contributing to their coexistence. Prophylactic medications used in the management of both migraines and epilepsy exhibit similar pharmacological characteristics. The review assesses treatment strategies for epilepsy and migraines, emphasizing antiseizure medications alongside nonpharmacological interventions like ketogenic diet, supplements, and vagal nerve stimulation. It aims to highlight how these interventions, originally targeted for epilepsy, may also show promise in preventing migraines. The urgent need for further randomized, controlled clinical trials investigating both pharmacological and nonpharmacological interventions for treating both disorders is emphasized, aiming to pave the way for innovative therapeutic strategies.

Дослідження взаємозв’язку психоневрологічних та дегенеративних порушень у пацієнтів при больовій дисфункції скронево-нижньощелепних суглобів.

Summary: An increase in the prevalence of painful dysfunctions of the temporomandibular joints (TMD), which, according to the modern views of the theory of combined pathogenesis, has neuromuscular, occlusive-articulation, psychophysiological, psychoemotional, and ischemic components, up to 82-87% among the general applications of dental patients profile indicates the need for new scientific research in this direction. And the increase in manifestations of the phenomenon of pain and its diversity in TMJ dysfunctions indicates that traditional therapy remains insufficiently effective and needs correction and improvement. The aim of this study is to study and compare the nature and degree of psychoneurological and degenerative-dystrophic disorders in patients with TMJ pain dysfunction. is to study and compare the nature and degree of changes in the electromyographic activity of the main and auxiliary masticatory muscles in patients with restored dentition defects during prosthetics using analog and digital methods. Research materials and methods. The representative contingent of patients included 48 people, of which 11 (22.9%) patients were male, 37 (77.1%) patients were female. The analysis of the dental status of the patients was carried out according to the data of the standard clinical examination, the standard and author’s questionnaire, the abbreviated «Hamburg» examination. The patients were diagnosed with defects of the teeth and dental rows, complicated by increased wear of the hard tissues of the teeth, secondary deformations, traumatic occlusion, TMJ dysfunction and parafunction of the masticatory muscles. To assess the patient’s psychoneurological condition, we used diagnostic methods of autonomic dysfunction syndrome, including segmental dysfunction. The intensity of the pain syndrome was assessed using visual analog scales. Personal and situational anxiety and depression were assessed. We determined situational and personal anxiety in patients with diseases of the maxillofacial apparatus according to the Spielberger-Hanin test (State-Trait Anxiety Inventory _ STAI)/ the severity of depression according to the L. Radloff depression scale, to which items from the A. Beck and W. Zung questionnaires were attached. The results Violations of central autonomic regulation were detected in the examined patients and were manifested by headache, unmotivated prolonged subfebrileness and syncopal states without signs of convulsive readiness on the encephalogram during encephalography. Vegetative dystonia with a paroxysmal course was diagnosed in 9 (18.8%) patients, vaginulid paroxysmal disorders – in 3 (6.3%) patients. TMJ dysfunctions and impaired vegetative activity of the nervous system against the background of stressful situations create an activating and maladaptive effect on regulatory mechanisms. Thus, among the studied group of patients, depression was diagnosed in 39 (81.3%) patients, including: mild degree – 21 persons (43.8%), medium degree – 14 persons (29.2%), severe degree – 4 persons (8.3%). Conclusions. As a result of our research, the feasibility of using the proposed complex diagnostic program for the functional state of the dento-maxillary, postural and autonomic nervous system of patients for the integrative assessment of the relationship between occlusal disorders of the jaws and postural disorders and vegetative dysfunction in patients with pathology of the temporomandibular joints was proven and substantiated. A multidisciplinary approach to treatment contributed to effective and quick rehabilitation of patients with TMJ pain dysfunction. The need for the proposed rehabilitation measures is related to the creation of individual treatment and rehabilitation algorithms, which necessarily take in to account the state of manifestation of the patient’s dental pathology, his general somatic condition, psychoneurological status, age and the state of the musculoskeletal system as a whole. Key words: temporomandibular joints, prosthetic dentistry, dentition defect, masticatory muscles, musculoskeletal system, psychoneurological condition, degenerative-dystrophic disorders, occlusion.

Assessing the Level of Awareness About Breath-Holding Spells Among the General Population in the Makkah Region, Saudi Arabia.

Background and objective Breath-holding spell (BHS) is a serious condition that affects healthy and normal children. It is a paroxysmal non-epileptic disorder and usually occurs after the child gets angry, annoyed, or aroused. In such a scenario, an episode of crying and silent expiration associated with color changes, either cyanosis or pallor, leads to loss of consciousness in the child. In Saudi Arabia,studies assessing the awarenessamong parents about BHS have been scarce. In light of this, this study aimed to evaluate the awareness of BHS among parents in Makkah, Saudi Arabia, in 2023. Methodology This was a cross-sectional study conducted between June and October 2023 by usingGoogle Forms to collect data about awareness of risk factors of BHS among the general population in Makkah. We employed a validated andself-generated survey that was distributedthrough social media platforms. Results The study included 602 participants; 138 (22.9%) of them had witnessed BHS episodes. Of note, 407 (67.6%) thought that there was a connection between BHS and iron deficiency anemia. A significant majority (n=565, 93.9%) mentioned that spells can lead to passing out and seizures, and 542 (90%) thought that spells are dangerous. The majority (n=479, 79.6%) reported that the actions required during spells involvelaying the child on the floor, keeping the child away from anything sharp, staying with the child,and calling 911 if the child remains blue or is not breathing for longer than a minute. The most common source of information for the participants was the Ministry of Health (n=182, 30.2%). Conclusions This study found a generally lowlevel of awareness amongparents regarding several aspects of BHS. Hence, we recommend conducting educational campaigns to ensure parents have accurate information about BHS so that they can respond appropriately to its occurrence in children.

Transitional loss of consciousness as an interdisciplinary problem of diagnosis

The review is devoted to the classification, diagnosis and differential diagnosis of transient loss of consciousness. The pathophysiology of transient loss of consciousness is described. It is concluded that the criteria for the differential diagnosis of transient disorders of consciousness need further development and validation. The problem of paroxysmal disorders of consciousness is interdisciplinary in nature and requires the combined efforts of doctors of different specialties to develop a unified algorithm for clinical, laboratory and instrumental diagnostics, determine management tactics and correct patient routing.