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. Generic Core. The perceptions of school functioning according to children and social functioning, according to parents, were worse in the PHIV+ group compared to those in the PHEU group. In comparison to the HUU group, PHIV+ children received lower total HRQoL scores in the caregivers' perception. Most of the life-quality indices increased systematically with age in PHIV+ group, whereas opposite trends were present in both control groups. Caregivers of children with a final CDC category C and caregivers of children diagnosed with encephalopathy perceived most domains of their children functioning as more problematic. A more serious course and more severe HIV infection before treatment were associated with worse multidimensional functioning and a worse total HRQoL score. Results highlight the importance of early diagnosis and treatment initiation as having significant implications for the quality of life.

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. RESULTS: The presence of mutations in all of them was confirmed. Only point mutations were identified, two missenses p.Gly132Ser, p.Arg212Cys and amino acid insertion p.Ser_Val227insValProPro. In two cases the mutations arose de novo, one was heritable of paternal origin. CONCLUSIONS: GLUT1-DS shows high clinical variability. It should be suspected in children of any age presenting with single features or a combination of any form of intractable epilepsy with seizures of various types, movement disorders and paroxysmal events, especially triggered by exercise, exertion, or fasting, and any unexplainable neurological deterioration. The basic diagnostic hallmarks of GLUT1-DS are CSF hypoglycorrhachia and lowered CSF/Blood serum glucose ratio. This is why lumbar punction should be considered more frequently than it is in practice being performed nowadays. Antiepileptic drug treatment may be ineffective or even potentially detrimental. Early identification and molecular confirmation of GLUT1-DS is important, because this is a metabolic disorder and patients should as soon as possible primarily be treated with a ketogenic diet.

Cognitive impairments in Polish children and adolescents with perinatal HIV infection. / Zaburzenia poznawcze u dzieci i mlodziezy z wrodzonym zakazeniem HIV w Polsce.

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. CANTAB Research Suite was used to assess cognitive functioning. RESULTS: In comparison with the HIV-nA group, the PHIV+ group scored worse in movement execution, shifting and flexibility of attention, reversal learning and working memory. In comparison with the PHEU group, the PHIV+ group had significantly longer planning time in the memory task. The analysis of results for the 12-18 year-old age group revealed deterioration of cognitive functions in all tests of the PHIV+ children in comparison with the HIV-nA group. A higher logarithm of viral load at the start of the ARV treatment was associated with worse results in the use of feedback, shifting of attention, cognitive flexibility and worse information processing. CONCLUSIONS: Results of the research indicate deterioration of executive functioning in the PHIV+ group associated with longer duration of HIV neuroinfection and severity of infection before treatment.

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. Variation affecting known MCDs-associated genes was found in 16/54 cases, including 11 patients with SNV, 2 patients with CNV, and 3 patients with both CNV and SNV, at distinct loci. Diagnostic pathogenic SNV and potentially damaging variants of unknown significance (VUS) were identified in two groups of seven individuals each. We demonstrated that de novo variants are important among patients with MCDs as they were identified in 10/16 individuals with a molecular diagnosis. Three patients showed changes in known MCDs genes  and a clinical phenotype beyond the usual characteristics observed, i.e., phenotypic expansion, for a particular known disease gene clinical entity. We also discovered 2 likely candidate genes, CDH4, and ASTN1, with human and animal studies supporting their roles in brain development, and 5 potential candidate genes. Our findings emphasize genetic heterogeneity of MCDs disorders and postulate potential novel candidate genes involved in cerebral cortical development.

[Acne rosacea--diagnostic challenge]. / Trudnosci w rozpoznawaniu tradziku rózowatego.

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. As the clinical picture might be confusing, similar to other illnesses, differential diagnosis with other dermatoses like acne vulgaris, erysipelas, seborrhoeic and contact eczema as well as systemic diseases like lupus erythematosus, dermatomyositis, scleroderma, sarcoidosis and leukemia were discussed.