Journal of Health and Rehabilitation Sciences

Dravet Syndrome – Clinical and Developmental Characteristics: A Case Report

Aleksandra Đurić-Zdravković, Aleksandra Pavlović — Mon, 25 Nov 2024 00:00:00 +0100

Introduction: Dravet syndrome is a rare, genetically determined epilepsy and epileptic encephalopathy primarily caused by a loss-of-function mutation in the SCN1A gene, also associated with autism spectrum disorder. Follow-ing birth, patients have typical neurodevelopment, but the regression of cognitive, motor and speech abilities become noticeable after the onset of seizures.
Aims and case report: We report on the case of a five-year-old girl with characteristic clinical features of Dravet syndrome, detailing her basic clinical and developmental characteristics, disease course and treatment. The first seizure occured at four months of age, coinciding with increased body temperature, and by the end of first year she developed recurrent seizures. While the baseline electroencephagram was nomal, follow-up examinations revealed continuous high-amplitude and sharp, multifocal spike waves. During her second year of life, significant delay in psychomotor development became apparent. The Bayley-III scale was used to assess psychomotor de-velopment in cognition area, comprehension and quality of speech, as well as fine and gross motor skills. The results indicated that her cognitive abilities corresponded to those of an eight-month-old child, while her motor skills were at the level of an 18-month-old. Notable gait impairment was observed, with a wide-based crouch gait. The patient was also diagnosed with an autism spectrum disorder.
Conclusion: Although rare, Dravet syndrome is an important differential diagnosis in children presenting with early-onset epilepsy and progressive developmental delays. It is essential to evaluate patients for common comor-bidities, such as autism, gait disorders, and intellectual disability, important determinants of patients’ quality of life.

The Effectiveness of high-intensity laser therapy on pain in tendinopathy

TJAŠA BERČIČ, MIT BRACIC — Sun, 27 Oct 2024 00:00:00 +0200

Introduction: High-intensity laser therapies (HILT) have gained significant attention in therapeutic pain treat-ment. The aim of this systematic review was to determine the effectiveness of HILT therapies in the management of different types of tendinopathy-related pain, and the long-term benefits associated with treatment process.
Methodology: A systematic literature review of prospective randomized controlled trials from electronic data-bases: Google Scholar, Pub Med, Embase, Science Direct, and ProQuest, using relevant key words, was per-formed. Randomized trials that included HILT, patients with tendinopathy, pain management, and at least one single clinically pertinent attribute were selected. Standard PRISMA protocols were followed when completing the assessment.
Results: The physical, demographic, and theoretical insights from various studies suggest that HILT is a highly promising approach for managing pain in patients with tendinopathy. The most common body parts for treating tendinopathy using this method were the shoulder, elbow, ankle, and knee. Various attributes and parameters, such as Hand function evaluated by Quick Disabilities of Arm, Shoulder and Hand Questionnaire (QDASH) and Hand-grip Strength; pain assessed by the visual analogue score (VAS) during rest or activity, 36-item short-form health survey (SF-36) for physical and mental health, and the shoulder pain and Disability Index (SPADI) for shoulder and elbow assessment, were frequently significant across studies.
Conclusion: HILT could be recommended as a treatment of choice for reducing pain and improving function in patients with tendinopathy, with potential benefits when combined with other physical therapy treatments. Further studies are needed to clarify optimal treatment protocols and long- term outcomes.

Analysis of anamnestic data from genetic counseling of couples with history of repeated spontaneous abortions from Split Croatia

Vida Culic, Damir Roje, Robert Vulić — Sun, 04 Aug 2024 00:00:00 +0200

Aim: To show the importance of how important are in the genetic counselling process of spontaneous abortions, including careful and detailed analyses of anamnestic data and drawing a family tree.
Methods: We included 451 couples with normal karyotypes and treated in the Genetic Counseling Unit due to one or more unsuccessful pregnancies from 1985 to 2010.
Results: Second-generation relatives of both partners had two times higher number of SA than the general popu-lation. Almost one third of participans (men and women) were historically exposed to some harmful agent. The "motherhood age effect" is not present, male partners in the group with 3 spontaneous abortions (SA) were older. Both men and women had previous urinary and/or genital infections more often than in the general population. There was no significant correlation between occupation and SA and the frequency of urogenital infections with the type of occupation. Women were affected by computer work or exposure to food and chemicals, while men mostly by heat and cold exposure. Harmful habits predominant in women was smoking and alcohol by men.
Conclusion: The research showed how much important information could be obtained for further investigation of the causes of a complex multifactorial process such as recurrent spontaneous abortions.

Scientific publishing in the Republic of Macedonia analysed with artificial intelligence

Mirko Spiroski, Ivo Spiroski — Thu, 20 Jun 2024 00:00:00 +0200

Aim: The aim of this study was to present current scientific publishing activity of the Republic of Macedonia analysed with artificial intelligence.

Methods: This analysis was performed with the artificial intelligence platform www.wizdom.ai during March 18, 2024.

Results: In the Republic of Macedonia, in 2023 were published 770 publications with closed, 432 with bronze, 200 with hybrid, 805 with gold, and 61 with green access. In the same year, a total number of 27,418 citations were recorded, with the biggest number of collaborations with United States. Total number of researchers that have published articles in 2023 was 2,550, with local co-authors of 2,268, and with international co-authors of 1,027.

Conclusion: The power of artificial intelligence for analysis of scientific publishing is very sensitive and can be used with precautions because of the limited electronic availability of scientific data, as well as of the different inclusion and exclusion criteria for analysis.

Drug discovery and development and precision medicine for Autism Spectrum Disorder – current state

Irena Stojanovska — Thu, 20 Jun 2024 00:00:00 +0200

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder/condition. Medical interven-tions for this condition are mainly pharmacological, and generally not tailored to precisely address the specific underlying issues in each ASD individual. Despite the extensive efforts to develop new or repurpose existing drugs over the decades, the range of medications that address this condition remains very limited.
Findings: Progress in drug development has been hindered by research design limitations and the complex, het-erogeneous nature of the ASD itself. Therefore, this article first discusses preclinical and clinical studies aimed at finding effective treatments, highlighting their shortcomings and potential solutions. It then delves into the com-plexity of ASD and the implications for drug development, such as its phenotypic and genetic heterogeneity and multifactorial etiology, and unclear diagnostic boundaries with other developmental disorders.
Exploiting the advantages of new technologies, current autism treatment research is steering towards prioritizing genetic and molecular data over phenotypic data, emphasizing the need for biologically meaningful and quantifi-able biomarkers to identify biologically defined and clinically actionable subgroups within ASD, amenable to specific treatments.
The critical role of precision medicine is underscored as a comprehensive, fundamental approach to biology-based drug development and personalized treatments. Achieving this goal requires an integrated analysis of multilayered data, utilizing multi-omics, systems biology, and machine learning approaches.
Conclusion: Lastly, the article provides a brief overview of current initiatives and private sector efforts focusing on precision medicine treatments for neurodevelopmental disorders, highlighting their progress in developing drugs through this innovative approach.