Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.

We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants.

Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.

Introduction: Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on factors such as the size of TNGSP, the comparative advantages of exome or genome-wide sequencing over TNGSP, and the impact of clinical, electrophysiological, and demographic variables on genetic test performance. This study aims to elucidate the demographic and clinical factors influencing the performance of TNGSP in 138 Polish patients with epilepsy, recognizing the pivotal role of genetic testing in guiding patient management and therapy.

Qualitative assessment in the third month of life allows for a better prognosis of the achievement of motor milestones versus assessment of pathological reflexes- prospective studies on Polish children.

Introduction: The characteristic feature of primitive reflexes is that they occur early in development and must expire at a well-defined age. The study was conducted prospectively on a group of 107 children (74 boys). The study population included 83 infants born on time (weight 3,465 ± 395 g) and 24 born prematurely (weight 2,225 ± 793 g).

Impact of selected risk factors on motor performance in the third month of life and motor development in the ninth month.

Background: Proper motor development can be influenced by a range of risk factors. The resulting motor performance can be assessed through quantitative and qualitative analysis of posture and movement patterns.

Methods: This study was designed as the cohort follow-up of the motor assessment and aimed to demonstrate, in a mathematical way, the impact of particular risk factors on elements of motor performance in the 3 month and the final motor performance in the 9 month of life.

The standardization of the Polish version of the Alberta Infant Motor Scale.

Background: The Alberta Infant Motor Scale (AIMS) is a standardized tool for assessing gross motor development from birth through independent walking (0-18 months). The AIMS was developed, validated and standardized in the Canadian population. Results of previous studies on the standardization of the AIMS have discerned differences in some samples in comparison with Canadian norms.

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.

Missense variants in the synaptic vesicle glycoprotein SV2A gene have been previously found in a few individuals with epilepsy. Adverse reaction to levetiracetam in individuals with various variants of this gene has recently been described. Here, we report on a family with several members affected by epilepsy.

Phenotypic continuum of NFU1-related disorders.

Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging.

The Polish Version of the Alberta Infant Motor Scale: Cultural Adaptation and Validation.

Unlabelled: The Alberta Infant Motor Scale (AIMS) is a diagnostic tool for the assessment of the motor performance of infants from the time of birth, to the period of independent walking (0-18 months). This study aims to derive a Polish version of the AIMS through its cultural adaptation and validation. The study included 145 infants aged 0-18 months, who were divided into four further age groups: 0-3 months, 4-7 months, 8-11 months, and older than 12 months.

Recommendations for treatment strategies in people with epilepsy during times of shortage of antiseizure medications.

In times of severe antiseizure medication (ASM) shortage due to emergency situations (e.g., disasters, conflicts, sudden disruption to international supply chains), management of people with epilepsy with available ASMs can be difficult.

Spontaneous Resolution of Congenital Dural Venous Sinus Ectasia Associated With Polymicrogyria-Case Report.

Dural venous sinus ectasia belongs to a rare group of venous sinus malformations of unknown origin and uncertain prognosis. We report the first patient with idiopathic congenital ectasia of the confluence of sinuses with thrombosis associated with bilateral polymicrogyria. It may highlight the causative relation between ischemia within the central nervous system due to torcular herophili ectasia with thrombosis in early pregnancy and the development of cortical malformations in neonates.

Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.

mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced.

The PURPLE N study: objective and perceived nutritional status in children and adolescents with cerebral palsy.

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers.

Materials And Methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted).

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.

CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL.

Temperature Distribution of Selected Body Surfaces in Scoliosis Based on Static Infrared Thermography.

The purpose of the research was to assess the usefulness of thermography as a complementary method in musculoskeletal dysfunction, with particular emphasis on scoliosis. The children, aged 7-16, were classified into one of two groups: the study group-children with scoliosis ( = 20), and the reference group-healthy children ( = 20). All children underwent anthropometric tests, body mass index determination, four pictures each with a FLIR T1030sc HD thermal imaging camera, and measurement of spinal rotation with a scoliometer (Gima, Italy).

Mowat-Wilson syndrome: growth charts.

Background: Mowat-Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist.

Associations of autozygosity with a broad range of human phenotypes.

In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (F) for >1.

Convulsive status epilepticus management in adults and children: Report of the Working Group of the Polish Society of Epileptology.

Introduction: The Working Group was established at the initiative of the General Board of the Polish Society of Epileptology (PSE) to develop an expert position on the treatment of convulsive status epilepticus (SE) in adults and children in Poland. Generalized convulsive SE is the most common form and also represents the greatest threat to life, highlighting the importance of the choice of appropriate therapeutic treatment.

Aim Of Guideline: We present the therapeutic options separately for treatment during the early preclinical (>5-30min), established (30-60min), and refractory (>60min) SE phases.