Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation.

A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development. The boy from the first pregnancy was delivered vaginally, week 37, Apgar 10, birth weight 3,650 g. The mother, aged 30, had no family history of Down Syndrome or neuromuscular diseases.

The Use of Compounds Derived from in the Treatment of Epilepsy, Painful Conditions, and Neuropsychiatric and Neurodegenerative Disorders.

Neurological disorders present a wide range of symptoms and challenges in diagnosis and treatment. , with its diverse chemical composition, offers potential therapeutic benefits due to its anticonvulsive, analgesic, anti-inflammatory, and neuroprotective properties. Beyond cannabinoids, cannabis contains terpenes and polyphenols, which synergistically enhance its pharmacological effects.

Exploring Beneficial Properties of Haskap Berry Leaf Compounds for Gut Health Enhancement.

This study investigates the potential of formulated systems utilising haskap berry leaf extracts and dextran as carriers, to modulate both antioxidant and enzymatic inhibitory activities and their impact on the growth of specific bacterial strains. The analysis of antioxidant capacity, assessed through ABTS, CUPRAC, DPPH, and FRAP assays, revealed varying but consistently high levels across extracts, with Extract 3 (loganic acid: 2.974 mg/g, chlorogenic acid: 1.

A Fisetin Delivery System for Neuroprotection: A Co-Amorphous Dispersion Prepared in Supercritical Carbon Dioxide.

Fisetin (FIS), a senolytic flavonoid, mitigates age-related neuroprotective changes. An amorphous FIS dispersion with a co-carrier was prepared using supercritical fluid extraction with carbon dioxide (scCO). Characterisation, including powder X-ray diffraction and Fourier-transform infrared spectroscopy, confirmed amorphization and assessed intermolecular interactions.

Zein as an Effective Carrier for Hesperidin Delivery Systems with Improved Prebiotic Potential.

Hesperidin is a polyphenol derived from citrus fruits that has a broad potential for biological activity and the ability to positively modify the intestinal microbiome. However, its activity is limited by its low solubility and, thus, its bioavailability-this research aimed to develop a zein-based hesperidin system with increased solubility and a sustained release profile. The study used triple systems enriched with solubilizers to maximize solubility.

A suggestive seizure induction technique protocol in a short EEG in children and adolescents.

The use of a suggestive seizure induction procedure (SSI) in medicine, particularly in the differential diagnosis of psychogenic nonepileptic epileptic seizures (PNES), is well documented. However, there is no description of standardized suggestion procedures used in children and adolescents. The research presents a standardized method of SSI with a cotton swab soaked in water.

Amorphous Inclusion Complexes: Molecular Interactions of Hesperidin and Hesperetin with HP-Β-CD and Their Biological Effects.

This study aimed at obtaining hesperidin (Hed) and hesperetin (Het) systems with HP-β-CD by means of the solvent evaporation method. The produced systems were identified using infrared spectroscopy (FT-IR), X-ray powder diffraction (XRPD), and differential scanning calorimetry (DSC). Moreover, in silico docking and molecular dynamics studies were performed to assess the most preferable site of interactions between tested compounds and HP-β-CD.

The Systems of Naringenin with Solubilizers Expand Its Capability to Prevent Neurodegenerative Diseases.

Background: Naringenin (NAR) is a flavonoid with excellent antioxidant and neuroprotective potential that is limited by its low solubility. Thus, solid dispersions with β-cyclodextrin (β-CD), hydroxypropyl-β-cyclodextrin (HP-β-CD), hydroxypropylmethylcellulose (HPMC), and microenvironmental pH modifiers were prepared.

Methods: The systems formation analysis was performed by X-Ray Powder Diffraction (XRPD) and Fourier-transform infrared spectroscopy (FT-IR).

Lichen-Derived Compounds and Extracts as Biologically Active Substances with Anticancer and Neuroprotective Properties.

Lichens are a source of chemical compounds with valuable biological properties, structurally predisposed to penetration into the central nervous system (CNS). Hence, our research aimed to examine the biological potential of lipophilic extracts of , , , and their major secondary metabolites, in the context of searching for new therapies for CNS diseases, mainly glioblastoma multiforme (GBM). The extracts selected for the study were standardized for their content of salazinic acid, evernic acid, and (-)-usnic acid, respectively.

Fixed-Dose Combination of NSAIDs and Spasmolytic Agents in the Treatment of Different Types of Pain-A Practical Review.

This review presents the most common disease entities in which combinations of NSAIDs and spasmolytic drugs are used to reduce pain. The benefits of fixed-dose combination products (FDCs) are that they improve the response in people with insufficient monotherapy. Using the synergy or additive effect of drugs, it is possible to obtain a significant therapeutic effect and faster action with the use of smaller doses of individual drugs.

Permeability of Extract Component-Physodic Acid through the Blood-Brain Barrier as an Important Argument for Its Anticancer and Neuroprotective Activity within the Central Nervous System.

Lichen secondary metabolites are characterized by huge pharmacological potential. Our research focused on assessing the anticancer and neuroprotective activity of acetone extract (HP extract) and physodic acid, its major component. The antitumor properties were evaluated by cytotoxicity analysis using A-172, T98G, and U-138 MG glioblastoma cell lines and by hyaluronidase and cyclooxygenase-2 (COX-2) inhibition.

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.

Background: Leber hereditary optic neuropathy (LHON) leads to bilateral central vision loss. In a clinical trial setting, idebenone has been shown to be safe and to provide a trend toward improved visual acuity, but long-term evidence of effectiveness in real-world clinical practice is sparse.

Methods: Open-label, multicenter, retrospective, noncontrolled analysis of long-term visual acuity and safety in 111 LHON patients treated with idebenone (900 mg/day) in an expanded access program.

Temporomandibular disorders in adolescents with headache.

Background: Headache is a common complaint in all age groups and is a frequent cause of medical consultations and hospitalization.

Objectives: The aim of this study was to evaluate the prevalence of bite and non-bite parafunctions as well as the signs and symptoms of temporomandibular disorder (TMD) in adolescents presenting with primary headaches.

Material And Methods: Parents of adolescents presented with headaches to the Department of Developmental Neurology within a 12-month period were asked to complete a questionnaire developed by the authors of this study.

Treatment guidelines for Circadian Rhythm Sleep - Wake Disorders of the Polish Sleep Research Society and the Section of Biological Psychiatry of the Polish Psychiatric Association. Part II. Diagnosis and treatment.

Aim: Circadian rhythm sleep-wake disorders (CRSWD) are a group of disorders, in which the timing of sleep and wakefulness significantly differs from a patient's expectations or socially acceptable times. The aimof the article is to present the current principles for the diagnosis and treatment of CRSWD in adults and children.

Method: Guidelines proposed as CRSWD treatment standard are based on the recommendations from the scientific societies involved in the sleep research and medicine.

Treatment guidelines for Circadian Rhythm Sleep-Wake Disorders of the Polish Sleep Research Society and the Section of Biological Psychiatry of the Polish Psychiatric Association. Part I. Physiology, assessment and therapeutic methods.

Majority of the physiological processes in the human organism are rhythmic. The most common are the diurnal changes that repeat roughly every 24 hours, called circadian rhythms. Circadian rhythms disorders have negative influence on human functioning.

Nocturnal seizures are associated with more severe hypoxemia and increased risk of postictal generalized EEG suppression.

Patients with epilepsy have 20-fold risk of sudden death when compared to the general population. Uncontrolled seizures is the most consistent risk factor, and death often occurs at night or in relation to sleep. We examined seizure-related respiratory disturbances in sleep versus wakefulness, focusing on periictal oxygen saturation.

Concentration of Il-1β, Il-2, Il-6, TNFα in the blood serum in children with generalized epilepsy treated by valproate.

Background: The aim of the study was the comparison of concentrations of IL-1β, IL-2, IL-6 and TNFα before and after valproate (VPA) treatment in blood serum in patients with generalized seizures diagnosed and treated in the Department of Developmental Neurology, Poznan University of Medical Sciences from January 2006 to May 2007.

Methods: The analysis was conducted in a group of 21 patients with well controlled, generalized seizures (mean age 7.7±4.

Predicting diurnal and sleep/wake seizure patterns in paediatric patients of different ages.

Aim: To identify factors that influence diurnal and sleep/wake seizure timing in children undergoing tapered drug withdrawal in an epilepsy monitoring unit.

Methods: Medical charts of patients that underwent video-EEG were reviewed. Seizures were evaluated based on their occurrence in three-hour time intervals (bins) and between wakefulness and sleep.

The diagnostic yield of pediatric polysomnography based on the professional background of referring physicians.

Introduction: Polysomnography (PSG) is the gold standard in diagnosis of sleep-disordered breathing but is labor intensive and expensive. We assessed PSG outcomes based on physician specialty and whether prior referral to sleep clinics reduces costs for children with sleep problems.

Methods: Retrospective analysis of PSGs was performed by demographics, physician specialization, PSG indication, and results.

Cardiopulmonary complications during pediatric seizures: a prelude to understanding SUDEP.

Purpose: Sudden unexpected death in epilepsy (SUDEP) is an important, unexplained cause of death in epilepsy. Role of cardiopulmonary abnormalities in the pathophysiology of SUDEP is unclear in the pediatric population. Our objective was to assess cardiopulmonary abnormalities during epileptic seizures in children, with the long-term goal of identifying potential mechanisms of SUDEP.

The maintenance of wakefulness test in pediatric narcolepsy.

Objective tools are needed to assess the response to treatment in pediatric narcolepsy. This article presents a single-center experience documenting the use of the maintenance of wakefulness test (MWT) in a pediatric series. This study reviewed the charts of children with narcolepsy who had an MWT performed between January 2008 and June 2012.

MRI findings and sleep apnea in children with Chiari I malformation.

Chiari I malformation is characterized by downward herniation of the cerebellar tonsils through the foramen magnum. Scant data are available on the clinical course, relationship to the extent of herniation on magnetic resonance imaging in Chiari I malformation and the presence of sleep-disordered breathing on polysomnography. Retrospective analysis was performed looking at polysomnographic findings of children diagnosed with Chiari I malformation.

Clinical evolution of seizures: distribution across time of day and sleep/wakefulness cycle.

Seizures can evolve sequentially into different clinical phases. For example, a seizure may start as an aura (first phase), then evolve into a tonic seizure (second phase), and evolve further into a generalized tonic-clonic semiology (third phase). It is currently unknown whether specific seizure evolutions cluster at particular times of the day and/or during sleep/wakefulness.

Circadian patterns of generalized tonic-clonic evolutions in pediatric epilepsy patients.

Objective: To investigate the sleep/wake, day/night, and 24-h periodicity of pediatric evolution to generalized tonic-clonic seizures (GTC).

Methods: Charts of 407 consecutive patients aged 0-21 years undergoing continuous video-EEG monitoring for epilepsy were reviewed for the presence of GTC evolution. Seizures were characterized according to 2001 ILAE terminology.