Unraveling progression subtypes in people with Huntington's disease.

Background: Huntington's disease (HD) is a progressive neurodegenerative disease caused by a CAG trinucleotide expansion in the huntingtin gene. The length of the CAG repeat is inversely correlated with disease onset. HD is characterized by hyperkinetic movement disorder, psychiatric symptoms, and cognitive deficits, which greatly impact patient's quality of life.

Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).

Fatty acid hydroxylase-associated neurodegeneration (FAHN/SPG35) is caused by pathogenic variants in and has been linked to a continuum of specific motor and non-motor neurological symptoms, leading to progressive disability. As an ultra-rare disease, its mutational spectrum has not been fully elucidated. Here, we present the prototypical workup of a novel variant, including clinical and in silico validation.

The effects of an individualized smartphone-based exercise program on self-defined motor tasks in Parkinson's disease: a long-term feasibility study.

Background: Exercise therapy is considered effective for the treatment of motor impairment in patients with Parkinson's disease (PD). During the COVID-19 pandemic, training sessions were cancelled and the implementation of telerehabilitation concepts became a promising solution. The aim of this controlled interventional feasibility study was to evaluate the long-term acceptance and to explore initial effectiveness of a digital, home-based, high-frequency exercise program for PD patients.

Parkinson's disease or multiple system atrophy: potential separation by quantitative susceptibility mapping.

Background: Due to the absence of robust biomarkers, and the low sensitivity and specificity of routine imaging techniques, the differential diagnosis between Parkinson's disease (PD) and multiple system atrophy (MSA) is challenging. High-field magnetic resonance imaging (MRI) opened up new possibilities regarding the analysis of pathological alterations associated with neurodegenerative processes. Recently, we have shown that quantitative susceptibility mapping (QSM) enables visualization and quantification of two major histopathologic hallmarks observed in MSA: reduced myelin density and iron accumulation in the basal ganglia of a transgenic murine model of MSA.

The Effects of an Individualized Smartphone-Based Exercise Program on Self-defined Motor Tasks in Parkinson Disease: Pilot Interventional Study.

Background: Bradykinesia and rigidity are prototypical motor impairments of Parkinson disease (PD) highly influencing everyday life. Exercise training is an effective treatment alternative for motor symptoms, complementing dopaminergic medication. High frequency training is necessary to yield clinically relevant improvements.

Predicting the outcomes of interpolyelectrolyte neutralization at surfaces on the basis of complexation experiments and .

This study was carried out with the aim of establishing how the outcomes of polyelectrolyte multilayer formation can be predicted on the basis of the results of complexation studies in solution and . For this purpose, the correlation between the processes of complex and multilayer formation involving three pairs of vinylic polyions in solutions of binary 1 : 1 sodium salts (NaX; X = F, Cl, Br, I, NO, ClO) was explored by means of dynamic and electrophoretic light scattering, potentiometry, microcalorimetry, spectrophotometry and quartz crystal microbalance. The gradual reactant mixing in solution at lower salt concentrations resulted in a Fuoss-Sadek sequence of events (primary complexes → secondary complexes → 1 : 1 flocculate), whereby the obtained nano-complexes could be successively overcharged.

Interactions of zein and zein/rosin nanoparticles with natural polyanion gum arabic.

The objective of this study was to investigate interactions of zein (Z) and zein/rosin (Z/R) nanoparticles with gum arabic (GA), at different pH. Nanoparticles were firstly prepared by antisolvent precipitation of biopolymers from aqueous ethanol solutions. Nanoparticles suspensions were then dialyzed against water in order to remove ethanol and other impurities, and water suspensions of zein and zein/rosin nanoparticles were obtained.

Soft nanotechnology: the potential of polyelectrolyte multilayers against E. coli adhesion to surfaces.

Preventing bacterial attachment to surfaces is the most efficient approach to controlling biofilm proliferation. The aim of this study was to compare anti-adhesion potentials of 5 and 50 mmol/L polyelectrolyte multilayers of poly(allylamine hydrochloride)/poly(sodium 4-styrenesulfonate), poly(4-vinyl-N-ethylpyridinium bromide)/ poly(sodium 4-styrenesulfonate), and poly(4-vinyl-N-isobutylpyridinium bromide)/poly(sodium 4-styrenesulfonate) against Escherichia coli. Glass surface was covered with five polyelectrolyte layers and exposed to bacterial suspensions.

Challenges of assessment and treatment of ultra high risk for psychosis in an adolescent.

The onset of psychosis is typically preceded by a prodromal phase that is characterised by the emergence of "attenuated" psychotic symptoms. This phase is described as ultra-high risk (UHR) or at-risk mental state (ARMS) of psychosis. Criteria have been established for identifying these young people who are at clinical high risk.

Technical and Tactical Aspects that Differentiate Winning and Losing Performances in Elite Male Karate Fighters.

The purpose of this research was to identify the fighters' technical and tactical activity indicators in order to determine indicator significance regarding situational efficiency and designation between winning and losing performances in a karate match. We scientifically observed a sample of 274 male contesters of 137 karate matches during the 2008 World Karate Championship in Tokyo. Each individual competitor was observed in maximum of three matches.

Gender Differentiations of Some Anthropological Characteristics of Karate Players--Cadets.

The research was conducted with the aim of determining gender differentiations of some anthropological characteristics of male and female cadet karate players. To achieve this aim, a group of 10 morphological variables, ten motor tests, five situation motor test and six technical performance evaluation tests was applied. Two hundred and six competing players were measured, of which 105 male and 101 female.

Morphological, motor and technical determinants of fighting efficiency of Croatian female cadet age karate athletes.

The aim of this research was to determine the significance of morphological factors, factors of basic motor and specific motor abilities, and the factors of technical efficiency, on the karate fight success in Croatian female cadet karate athletes. With this purpose, the group of 18 anthropometric measures, 10 basic motor tests, 5 situational karate motor tests, the group of 8 evaluations of 6 basic karate techniques, and 2 karate kata performances was applied on the sample of 101 Croatian karateka aged 14 to 16. Inside the morphological area, the factor analysis isolated: Body mass and volume factor, Subcutaneous fat tissue factor, Longitudinal skeleton dimensionality factor, and Transversal fist dimensionality factor; in the basic motor area: General motor efficiency factor; in the situational motor area: General specific motor efficiency factor; in the area of karate technique performance evaluation: General technical efficiency factor.

Motor determinants of fighting efficacy in Croatian youth karateka.

The aim of this paper was to identify basic and motor structures which determine the achievement of top results in karate among younger cadets. For this purpose, a set of 10 basic motor tests and a set of 5 situational motor karate tests were applied on a sample of 60 male and 51 female Croatian karateka aged 13 to 15. Different motor and specific motor structures according to gender were isolated by factor analysis.

Minor physical anomalies in children with hearing impairment and normal controls.

The aim of this research was to assess differences in the frequency of individual minor physical anomalies (MPA) between healthy controls and children with hearing impairment (HI) and to find out whether some MPAs are more informative in discriminating between two groups than cumulative Waldrop's scores. The aim was also to investigate the influence of gender on MPA in children with HI and those with normal hearing (NH). The study was carried out on a sample of 424 children (121 children with hearing impairment (82 boys and 39 girls) aged from 5 to 18 and 303 healthy schoolchildren with normal hearing (152 boys and 151 girls) aged from 8 to 16).

Impact of morphological and motor dimensions on success of young male and female karateka.

The aim of this paper is to identify morphological and motor structures which determine the achievement of top results in karate in the age group of younger cadets. With this purpose, a set of 18 morphological measures and a set of 12 motor tests were used on a sample of 60 male and 51 female Croatian karateka aged 13 to 15. Different morphological structures were isolated by factor analysis according to gender.

Biomotor status and kinesiological education of students aged 13 to 15 years - example: karate.

The aim of this paper was to obtain information relevant for efficient selection in karate, based on comparison of biomotor status of male/female 7th and 8th grade students in primary school "Bijaći" from Kastel Novi and karate practitioners and non-practitioners (cadets) in Croatia. For this purpose, a sample was drawn of 352 primary school students (150 males and 152 females) and 50 karate practitioners (25 males and 25 females), all aged 13 to 15 years, and 2 morphological measures (body height and body mass) and a battery of 6 motor tests was used. A biomotor system which determines the situation efficacy in male and female karate practitioners was defined based on the comparison of test results of students from Kastela, Croatian karateka and Croatian standards, factor analysis of applied variables and discriminant analysis of those variables between karate athletes and students from Kastela.

Use of amino-terminal pro-B type natriuretic peptide as the parameter for long-term monitoring of water overload in patient with chronic kidney diseases.

Aim: To analyze usefulness of measurement amino-terminal pro-B type natriuretic peptide of (NT pro-BNP) as the one of parameters of water overload in patients with chronic kidney diseases.

Methods: A total number of 277 patients with chronic kidney diseases (CKD) were followed up in the period often years between January 2000 and July 2010. Patients with creatinine clearance of 60 ml/min or less were included in the study.

The impact of specific motoricity on karate performance in young karateka.

The aim of the study was to assess interdependence of specific motor abilities (situation karate tests) and motor skills (karate techniques), and karate performance (fighting efficiency) in under-sixteen male karateka aged 11-12 and 13-14 years. A battery of 5 situation motor tests were applied and 6 basic elements of karate technique evaluated in a sample of 20 male karateka aged 11-12 and 20 male karateka aged 13-14 years. Three criterion variables were formed: 1) one factor as a factor of general technical efficiency in karate was isolated by factor analysis of 6 karate techniques; 2) cumulative evaluation of 2 kate as kate performance; and 3) total score assessment based on success achieved at national karate championships as contest efficiency (fighting efficiency).

Elevated VEGF-plasma levels in young patients with mild essential hypertension.

Background: Growing evidence shows that inflammation plays a pivotal role in the pathophysiology of essential hypertension (EH). Vascular endothelial cell growth factor (VEGF) is currently discussed as a possible mediator of inflammation. To investigate the hypothesis that VEGF plays a role as an inflammatory mediator in EH we performed the present pilot study of young patients in a very early stage of EH.

Impact of motor abilities on belly dance performance in female high school students.

The aim of the study was to determine the relation of motor abilities and belly dance performance in female high school students, 1st to 4th graders aged 15-18 years. A battery of 19 motor tests were used and nine belly dance elements evaluated in the study sample that included 148 students aged 15-16 (1st and 2nd graders) and 123 students aged 17-18 (3rd and 4th graders). Factor analysis of the motor space isolated six factors in either study group: in 1st and 2nd graders, the first factor integrated coordination, trunk strength, aerobic and muscle endurance, and speed of lower extremity movements; second factor defined explosive strength; third factor defined flexibility; fourth factor defined rhythm coordination; fifth factor defined equilibrium; and sixth factor defined back musculature strength; in 3rd and 4th graders, the first factor integrated coordination and lower extremity explosive strength; second factor defined flexibility; third factor integrated trunk strength and aerobic-muscular endurance; fourth factor defined equilibrium; fifth factor defined rhythm coordination; and sixth factor defined lower extremity strength.

Use of lamotrigine in glossopharyngeal neuralgia: a case report.

We describe a case of a patient with glossopharyngeal neuralgia (refractory to treatment with carbamazepine, amytriptyline, diazepam, and indomethacin) treated with lamotrigine as monotherapy, the first described, who responded completely to the therapy and did not complain of side effects. The complete analgesic effect was reached at the lamotrigine daily dose of 200 mg per day and was maintained at that dose for additional 6 months, with the blood concentration within the reference range.

Enhanced levels of platelet P-selectin and circulating cytokines in young patients with mild arterial hypertension.

Background: Emerging evidence links inflammation to atherosclerosis (AS). Although some studies have addressed the role of inflammation in patients with arterial hypertension (AH), its overall contribution in AH is far from being understood. Therefore, the present pilot study was designed to examine the role of platelet P-selectin and various inflammatory mediators in young patients with moderate AH without signs of target organ damage.

Palatal and dental arch morphology in Down syndrome.

The analysis of palatal vault morphology and maxillary dental arch shape was carried out in the sample of 42 Down syndrome (DS) patients with trisomy 21. The data were compared to those of healthy controls from the same population matched for age and sex. Palatal morphology and upper dental arch shape were studied on hard plaster casts of the patients and controls.

Dental and minor physical anomalies in children with developmental disorders--a discriminant analysis.

A discriminant analysis was performed in a sample of 303 children with developmental disorders (DD) and 303 healthy controls (C) in order to test whether some oro-dental and physical minor anomalies could discriminate these groups of children. DD sample comprised 176 mentally retarded (MR) children. 70 children with impaired hearing (IH) and 57 children with impaired vision (IV).