Publications by authors named "Marina Katsalouli"

, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the initiation and propagation of action potentials and neuronal excitability causing various types of epilepsy. Dravet syndrome (DS), the first described clinical presentation of SCN1A channelopathy, is characterized by severe myoclonic epilepsy in infancy (SMEI).

View Article and Find Full Text PDF
Article Synopsis
  • Vamorolone, a glucocorticoid receptor agonist, was tested to assess its effectiveness and safety over 48 weeks compared to prednisone in children with Duchenne muscular dystrophy (DMD).
  • A double-blind clinical trial involved 121 participants aged 4 to under 7 years, receiving varying doses of vamorolone and prednisone, with improvements monitored in motor skills and growth.
  • Results indicated that vamorolone (6 mg/kg/day) maintained motor skill improvements over 48 weeks, with significant growth benefits seen after participants switched from prednisone to vamorolone.
View Article and Find Full Text PDF

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations toward delineation of underlying mechanisms and final diagnosis.

View Article and Find Full Text PDF
Article Synopsis
  • Long-term use of corticosteroidal anti-inflammatory drugs can negatively impact patient quality of life, highlighting the need for safer alternatives.
  • The study tested vamorolone, a new type of dissociative steroid, for its effectiveness and safety in boys aged 4 to under 7 with Duchenne muscular dystrophy (DMD) over a 24-week period.
  • Results showed that vamorolone (6 mg/kg) significantly improved motor function compared to placebo, while the safety profile was potentially better than traditional corticosteroids.
View Article and Find Full Text PDF

Background: Diabetic neuropathy (DN) is the least recognized complication of diabetes mellitus and may start early in the course of the disease. Aldose reductase (AKR1B1) gene promoter Z-2/Z-2 polymorphism increases the expression of AKR1B1 enzyme and may contribute to DN.

Subjects: We evaluated 108 Type 1 diabetes (T1D) children and adolescents (mean ± SD age: 13.

View Article and Find Full Text PDF

Background: Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of life and disease epidemiology. Spinal Muscular Atrophy (SMA), is one of these conditions and approved therapeutic approaches have recently become available to patients.

Objective: Analysis of genetic and clinical data from SMA patients referred to the single public-sector provider of genetic services for the disease throughout Greece followed by a retrospective assessment in the context of epidemiology and genotype-phenotype associations.

View Article and Find Full Text PDF

BackgroundFriedreich's ataxia (FA) is an autosomal-recessive neurodegenerative disease characterised by neurologic, cardiac and endocrine abnormalities. Currently, Friedreich cardiomyopathy (FA-CM) staging is based on early ECG findings, high sensitivity troponin (hsTNT) ≥14 ng/ml and echocardiographic left ventricular (LV) morphologic and functional evaluation. However, further parameters, accessible only by cardiovascular magnetic resonance (CMR), such as myocardial oedema, perfusion defects, replacement and/or diffuse myocardial fibrosis, may have a place in the staging of FA-CA.

View Article and Find Full Text PDF

Aim: To evaluate the prevalence of early somatic neuropathy in children and adolescents with Type 1 diabetes mellitus (Type 1 DM) and its association with the presence of glutamic acid decarboxylase and islet antigen-2 autoantibodies (GADA and IA-2A).

Methods: A cross-sectional study was conducted in a hospital-based cohort of pediatric Type 1 DM patients (n=85, mean(±SD) age: 13.5±3.

View Article and Find Full Text PDF

Unlabelled: Greece ranks among the first countries suffering from the obesity epidemic globally. The aim of the study was to evaluate body composition in Greek patients with Duchenne muscular dystrophy (DMD). We hypothesized that able-bodied patients would not differ from controls, in terms of adiposity, based on clinical observations during everyday practice.

View Article and Find Full Text PDF

Background: Spinal cord compression and associate neurological impairment is rare in patients with scoliosis and neurofibromatosis. Common reasons are vertebral subluxation, dislocation, angulation and tumorous lesions around the spinal canal. Only twelve cases of intraspinal rib dislocation have been reported in the literature.

View Article and Find Full Text PDF