Cognitive impairments in Polish children and adolescents with perinatal HIV infection.

Objectives: The aim of the study was to assess the presence of cognitive impairments in children and adolescents with vertically transmitted HIV infection and to determine possible relationships with clinical and socio-demographic variables.

Methods: Fifty children with perinatal HIV infection aged 6-18 years were included in the experimental group (PHIV+). Two sex- and age-matched groups were recruited as reference groups: (1) a PHEU group that included 24 healthy children perinatally HIV-exposed but uninfected, and (2) an HIV-nA group that included 43 healthy children of uninfected parents.

Health-related quality of life in Polish children and adolescents with perinatal HIV infection - short report.

The aims of the study were to assess health-related quality of life (HRQoL) in children and adolescents with perinatal HIV infection and to establish possible relationships with clinical and socio-demographic variables. About 56 children with perinatal HIV infection, aged 6-18 years (PHIV+ group), 24 healthy perinatally HIV-exposed but uninfected (PHEU) children, and 43 children HIV-unexposed uninfected (HUU) were assessed using the PedsQL 4.0.

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cortical development, a cohort of 54 patients demonstrating neuroradiologic signs of MCDs was investigated. Individual genomes were interrogated for single-nucleotide variants (SNV) and copy number variants (CNV) with whole-exome sequencing and chromosomal microarray studies.

Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

The Aim: To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene.

Material And Methods: The investigation was carried out in three children: two girls and one boy showing symptoms of GLUT1 deficiency syndrome (GLUT1-DS). They were referred for SLC2A1 gene analysis.

[Acne rosacea--diagnostic challenge].

Acne rosacea is a common skin disorder which affects adults, usually women. Erythema, papules, pustules and telangiectases, the main clinical manifestations of the disease are located on the face. Currently opinions dealing with pathogenesis and clinical forms of rosacea are presented.