A growing body of evidence suggests a correlation between schizophrenia and exposure to infectious agents. The majority of studied cases concerns the infection caused by T. gondii, an obligatory intracellular parasite that infects about 1/3 of the entire human population, according to the available data. The acute stage of the disease, predominantly short-lived and transient, transforms into the latent and chronic phase in which the parasite localizes within tissue cysts, mainly in the central nervous system. The chronic toxoplasmosis, primarily regarded as benign and asymptomatic, might be responsible, in light of current scientific evidence, for a vast array of neuropsychiatric symptoms. Numerous epidemiological case-control studies show a higher prevalence of T. gondii infestation in individuals with various psychiatric and behavior disorders, including schizophrenia. This paper tends to review the relevant studies that demonstrate links between schizophrenia and T. gondii infestation, of which the latter may be acquired in different developmental phases. Apart from epidemiological correlation studies, some papers on other associations were also presented, describing putative patophysiological mechanisms that might be at least partly responsible for chronic infection-induced neuromediator disturbances, together with morphological and functional alterations, e.g., low-grade neuroinflammation, which are likely to induce psychopathological symptoms. Toxoplasmosis is only one of the putative infectious agents that derange correct brain growth and differentiation, alongside genetic and environmental factors. All of them may lead eventually to schizophrenia. A better knowledge of infection mechanisms and its influence on neurobiochemical and neuropathological pathways may enable more efficient therapy and the prevention of this devastating disease.

PTPN23 encodes a ubiquitously expressed non-receptor type, catalytically inactive protein-tyrosine phosphatase found in all cells including neurons. Recently, we have identified PTPN23 in a cellular screen for the systematic identification of novel regulators of survival motor neuron (SMN) function in the assembly of splicing factors (Uridine-rich small nuclear ribonucleoproteins, UsnRNPs). Based on three families, recessive PTPN23 variants have been associated with human disease tentatively, without functional studies. Here, we describe a pediatric proband with severe developmental delay, epilepsy, cortical blindness, hypomyelination and brain atrophy on MRI. Whole exome sequencing and family study showed two novel PTPN23 variants, c.1902C>G (p.(Asn634Lys)) and c.2974delC (p.(Leu992Tyrfs*168)), in compound heterozygous state, which are predicted in silico to be damaging. When studying patient's fibroblasts we found similar expression of SMN but a dramatic reduction of cells displaying SMN accumulation in Cajal bodies (CB). SMN strongly accumulated in CB in more than 50% of unrelated control cell fibroblasts as well as in fibroblasts from the parent carrying only the c.2974delC (p.(Leu992Tyrfs*168)) variant (predicted to cause loss-of-function). In contrast, only 22% of cells showed respective SMN accumulations in patient fibroblasts (p = 1.9-2.5 × 10) while showing a higher level of nucleoplasmic SMN. Furthermore, the remaining accumulations in patient cells displayed weaker SMN signals than control or heterozygous wt/c.2974delC (p.(Leu992Tyrfs*168)) fibroblasts. Our report provides the first description of the clinical phenotype of recessive PTPN23 variants with pathogenicity substantiated by a functional study.

Objectives: The aim of the study was to assess the incidence of stress urinary incontinence in women after labor, its determinants, and to establish its effect on women's satisfaction with their sex lives. Material and methods: The research implemented the Gaudenz-Incontinence-Questionnaire and the Sexual Quality of Life-Female scale (SQoL-F). The principal inclusion criterion was the time of 3 to 6 months after labor. Results: The research was carried out amongst 193 women. Thirty-two of the participants (16.6%) showed symptoms of stress urinary incontinence after labor that were statistically correlated with the number of experienced labors (p = 0.044) and the newborn's weight (p = 0.016). The participants' sex life satisfaction was on average 75.47 ± 24.68. The respondents suffering from stress urinary incontinence obtained a significantly lower (p = 0.006) average score for general sex life satisfaction (64.38 ± 26.15) when compared with women without symptoms of stress urinary incontinence (77.67 ± 23.86). Conclusions: The problem of incontinence after labor affected one in six women. Occupation, number of pregnancies, damage to the perineum during labor, and the infant's birth weight significantly dependent on the incontinence occurrence after labor. The onset of incontinence symptoms in women in the reproductive age has an adverse effect on their sex life satisfaction.

Wprowadzenie. Noworodki, u których rozpoznano przetrwałe nadciśnienie płucne (PPHN), są jednymi z "najtrudniejszych" pacjentów Oddziału Intensywnej Terapii Neonatologicznej (OITN). Pomimo ogromnego rozwoju, jaki dokonał się w neonatologii, umieralność wśród noworodków z PPHN jest nadal wysoka, a przebieg procesu leczenia niewydolności oddechowej -dużo bardziej skomplikowany niż dawniej. Zrozumienie istoty choroby oraz znaczenia prawidłowej pielęgnacji istotnie wpływa na proces leczenia. Cel pracy. Celem niniejszej publikacji jest omówienie standardów postępowania pielęgniarskiego wobec noworodków z przetrwałym nadciśnieniem płucnym. Praca przedstawia aspekty opieki nad dzieckiem z PPHN w polskich i australijskich oddziałach neonatologicznych. Skrócony opis stanu wiedzy. Noworodek z zespołem nadciśnienia płucnego wymaga profesjonalizmu i doświadczenia, zarówno zespołu lekarskiego, jak i pielęgniarskiego. Ponadto podkreśla się znaczenie w procesie zdrowienia rozważnej i profesjonalnej opieki pielęgniarskiej. Ocena stanu ogólnego w połączeniu z historią choroby, objawami klinicznymi, poziomem saturacji i gazometrią pomaga właściwie ocenić stan dziecka. Umiejętność rozpoznawania niepokojących objawów ze strony układu oddechowego jest istotna w celu oceny skuteczności prowadzonej wentylacji. Podsumowanie. Zasada minimal handling w opiece nad noworodkiem z PPHN ma znaczenie priorytetowe. Nadgorliwa pielęgnacja nie wpływa na przyśpieszenie procesu zdrowienia noworodka. Bardzo istotne jest utrzymywanie zorganizowanej oraz skoordynowanej opieki. Noworodek z PPHN powinien mieć zapewniony spokój. Ciągłe monitorowanie parametrów życiowych, ciśnienia tętniczego oraz poziomu saturacji zmniejsza potrzebę manipulacji, zapewniając noworodkowi spokój i bezpieczeństwo. Słowa kluczoweprzetrwałe nadciśnienie płucne, wentylacja oscylacyjna, tlenek azotu