How Has the Treatment of Polish Children with Dravet Syndrome Changed? Future Perspectives.

BACKGROUND: This report focuses on the treatment histories of 21 patients diagnosed with Dravet syndrome (DRVT) under the care of the Mother and Child Institute in Warsaw. This paper aims to present typical treatment schemes for patients with drug-resistant epilepsy, as well as to highlight the influence of genetic diagnosis on pharmacotherapeutic management and to present an economic analysis of hospitalization costs. This paper will also summarize the effectiveness of the latest drugs used in DRVT. METHODS: Clinical data were collected retrospectively from available medical records. The effectiveness of anticonvulsant treatment was assessed based on epileptic seizure diaries and observations by caregivers and pediatric neurologists. RESULTS: The study group (n = 21) consisted of patients aged 3-26 years. Orphan drugs dedicated to Dravet syndrome were introduced in all patients due to the genetic diagnosis, which significantly improved the patients' clinical conditions. The breakthrough drugs were stiripentol (in 16/21) and fenfluramine (in 3/21). CONCLUSIONS: In recent years, molecular genetics has rapidly developed in Poland, along with a steady increase in knowledge of Dravet syndrome among the medical profession. Early and precise diagnosis provides the opportunity to target treatment with drugs dedicated to Dravet syndrome with high efficacy.

A current view of mitochondria damage and the diversity of lipopigment inclusions in neuronal ceroid lipofuscinose type 2 from rectal biopsy.

Neuronal ceroid lipofuscinoses (NCLs) are a growing group of neurodegenerative storage diseases, in which specific features are sought to facilitate the creation of a universal diagnostic algorithm in the future. In our ultrastructural studies, the group of NCLs was represented by the CLN2 disease caused by a defect in the TPP1 gene encoding the enzyme tripeptidyl-peptidase 1. A 3.5-year-old girl was affected by this disease. Due to diagnostic difficulties, the spectrum of clinical, enzymatic, and genetic tests was extended to include analysis of the ultrastructure of cells from a rectal biopsy. The aim of our research was to search for pathognomonic features of CLN2 and to analyse the mitochondrial damage accompanying the disease. In the examined cells of the rectal mucosa, as expected, filamentous deposits of the curvilinear profile (CVP) type were found, which dominated quantitatively. Mixed deposits of the CVP/fingerprint profile (FPP) type were observed less frequently in the examined cells. A form of inclusions of unknown origin, not described so far in CLN2 disease, were wads of osmophilic material (WOMs). They occurred alone or co-formed mixed deposits. In addition, atypically damaged mitochondria were observed in muscularis mucosae. Their deformed cristae had contact with inclusions that looked like CVPs. Considering the confirmed role of the c subunit of the mitochondrial ATP synthase in the formation of filamentous lipopigment deposits in the group of NCLs, we suggest the possible significance of other mitochondrial proteins, such as mitochondrial contact site and cristae organizing system (MICOS), in the formation of these deposits. The presence of WOMs in the context of searching for ultrastructural pathognomonic features in CLN2 disease also requires further research.

Couples' sexual health after gynaecological cancer diagnosis - an unexplored area for further research.

Introduction: The aim of the study was to assess the sexual inhibitory tone, body image, self-concept, and sexual performance in couples after gynaecological cancer treatment, and to identify areas for further prospective studies. Material and methods: Thirty gynaecological cancer survivors with a heterosexual partner were assessed during a semi-structural sexual interview. Sexual excitation/sexual inhibition scales were used to evaluate proneness to sexual stimuli, whereas a body exposure during sexual activity questionnaire was used to assess body avoidance during sex. Self-concept in cancer survivors was evaluated by a sexual self-scheme scale. The differences in sexual needs, satisfaction, and sexual activity were comped between women and their partners. Results: In survivors and their partners the sexual inhibitory tone was higher than the excitatory tone - 3.91 and 2.45 vs. 2.97 and 2.31, respectively. Most women were schematic-positive and co-schematic - 46.7% and 40.0%, respectively. The decrease in importance of sex was higher in women compared to their partners (D change -0.88 and -0.22, respectively). The frequency of satisfying sex decreased after treatment in women but increased in their partners - D change: -1.04 and +2.94, respectively. Satisfaction with sexual life and quality of relationship improved or did not change after cancer diagnosis in women. None of the sexual response elements were changed by the cancer diagnosis in partners. Conclusions: In cancer survivors with a sexual partner, both people should be carefully counselled because there are some important differences in perception of sexual needs within the couple. Avoiding body exposure during sex and differences in proneness to sexual stimuli should be explored in further studies.

Pulmonary Rehabilitation with a Stabilometric Platform after Thoracic Surgery: A Preliminary Report.

The aim of this study was to evaluate the influence of exercises on a stabilometric platform on the physical fitness and mobility of patients with lung cancer after thoracic surgery. The Experimental Group included 22, and the Control Group consisted of 21 patients. All included patients were enrolled after thoracic surgery due to lung cancer. The Experimental and Control Groups were enrolled in a 3-week in-hospital pulmonary rehabilitation program. The Experimental Group additionally performed daily 20-min training sessions on a stabilometric platform. Agility and flexibility were assessed with the Fullerton test before and after rehabilitation in both groups, and quality of life was assessed with the SF-36 questionnaire. Exercise performance stated as a distance in a 6 min walking test (6MWT) significantly improved in both groups with a medium effect size. The results of the Fullerton test indicated improvements in flexibility in both groups after the completion of the program without a significant difference between the groups and with a small effect size. In the Experimental Group, the best results were observed in the Arm curl (p = 0.0001), Chair stand (p = 0.04), Up and go (p = 0.001) and Chair sit and reach (p = 0.0001) tasks. No deterioration in the quality of life was observed in the Experimental or the Control Group after the completion of the program. Between-group analyses revealed significant differences in the Role-Physical (RP) (p = 0.020) and Mental-Health (MH) (p = 0.025) domains of the SF-36. The rehabilitation program with a stabilometric platform improved agility and flexibility of patients after thoracic surgery without an effect size or significant differences between the Experimental and Control Groups.