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BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disease caused by imprinting disorders that impede the production of the ubiquitin E3A ligase protein (UBE3A). AS affects multiple systems, with the main symptoms including epilepsy, psychomotor disorders and speech development disorders. To date, no study has been conducted in the Polish population to verify the condition's diagnosis and treatment process. RESULTS: Seventy patients with the median age of 60 months were included into the analysis. 80% of patients were diagnosed with deletion, 19.9% with a mutation of UBE3A gene, 4.3% with paternal uniparental disomy (UPD) and 2.8% with an imprinting defect. The mean age of first symptoms was 5 months, while the mean age of diagnosis was 29 months (earliest in deletion group at 23 months), and the median duration of diagnosis process was 7 months. The average time to a clinical geneticist appointment was 3 months. 37.9% of the patients initially received a different diagnosis. Epileptic seizures were present in 88.6% of the individuals. 98.6% of the studied group were under care of a pediatric neurologist, 47.1% of a gastroenterologist. A ketogenic diet was used in 7.1% of patients. Caregivers identified finding a specialist suitable for AS patients and access to genetic testing as the biggest problems. CONCLUSIONS: The care of patients with AS in Poland is carried out according to the European and world standards, however there is an impeded access to clinical geneticist, and the knowledge about rare diseases among primary healthcare physicians could be improved. Moreover, access to AS care specialists and coordination of care is limited. There is a need for creation a specialized centers and databases for AS patients.

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Peyronie's disease (PD) is a connective tissue disorder affecting the tunica albuginea. It can cause pain and penile deformation, and its prevalence increases with age. Although surgery is the gold standard for the chronic phase of the disease, there are several conservative treatment methods available, and the optimal management of the acute phase of the disease remains a matter of debate. In this article, we aim to summarize the recent trends in research on the subject of non-surgical treatment of PD. The search was performed in PubMed, Scopus, and Web of Science databases and included studies in English published between 2012 and 2022 investigating the clinical outcomes of non-surgical PD management in humans. We have identified 20 distinct conservative treatment strategies. Among the oral therapeutics, only the use of phosphodiesterase type 5 inhibitors is currently recommended for clinical use in patients with concomitant erectile dysfunction. The use of collagenase from Clostridium histolyticum is supported by the best quality evidence in terms of intralesional injections for patients suffering from significant penile curvature; however, interferon alpha-2b can also be an option in such patients. Among other non-invasive methods, extracorporeal shockwaves can be useful for pain reduction, and penile traction therapy can lead to a reduction in penile curvature and plaque size. Despite a wide range of non-surgical methods available for PD treatment, the majority are not supported by sufficient scientific evidence, and the treatment efficacy is underwhelming. Further research on the subject of non-surgical management of PD is highly warranted.

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BACKGROUND AND PURPOSE: We conducted a multicentre real-world study to assess the outcomes of radical salvage re-irradiation for non-melanoma skin cancer (nMSC) recurrences following definitive or postoperative radiotherapy. MATERIALS AND METHODS: Data on patients treated between 2006 and 2022 with re-irradiation for nMSCs were retrospectively collected from five high-volume brachytherapy centers. The primary endpoint was local control (LC). Secondary endpoints included overall survival, progression-free survival, and adverse events (AEs). The Kaplan-Meier estimator and Cox Proportional-Hazards Model were utilised in the analysis. RESULTS: A total of 58 patients with a median age of 78.4 years with recurrences of previously irradiated nMSC in the head and neck region were included in the analysis. The majority had cutaneous basal cell carcinoma (BCC; 91.4%), and were irradiated with high-dose-rate brachytherapy (HDR-BT; 91.4%). The most common locations included the nasal region (36.2%) and external ear (18.9%). The 1-year LC was 73.1% and decreased to 41.7% at three years. The size of the re-irradiated lesion was the single independent prognostic factor in Cox analysis (per mm; HR 1.07; 95% CI 1.04-1.11; p < 0.001). Grade 3 or worse AEs were reported in 7 cases (12.1%). CONCLUSION: Re-irradiation for nMSCs, predominantly administered with brachytherapy for radiorecurrent BCC, is associated with high recurrence rates, and the risk of failure significantly increases with the size of the treated lesion. Re-irradiation could be an option for selected elderly patients with small, localised, inoperable recurrences after RT to achieve local control or defer systemic treatment; however, prospective trials are necessary to confirm its safety and efficacy.

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The recently introduced HCM-AF Risk Calculator allows the prognosis of atrial fibrillation (AF) occurrence in hypertrophic cardiomyopathy (HCM) patients. The aim of this study was to assess the clinical application of the HCM-AF Risk Score in the prediction of the clinical outcomes of Polish patients. The study included 92 patients (50.0% female, median age 55 years), with a baseline sinus rhythm diagnosed between 2013 and 2018. The analysis involved the incidence of clinical characteristics and outcomes, total mortality, rehospitalisation, and the course of heart failure (HF). According to the HCM-AF Risk Score, the HCM population was stratified into three subgroups, with a low (13/14.2%), intermediate (30/32.6%), and high risk of AF (49/53.2%). Subgroups differed significantly: the high-risk subgroup was older, had a higher body mass index (BMI), and more advanced signs of left ventricular (LV) hypertrophy and left atrium (LA) dilatation. The registered AF incidence was 31.5% and 43.5% in the 2- and 5-year follow-ups, and it was significantly higher than in the HCM-AF Risk Score population, which had 4.6% in the 2-year follow-up, and 10.7% in the 5-year follow-up. In the whole population, the AF incidence in both the 2- and 5-year follow-ups revealed a strong correlation with the HCM-AF Risk Score (r = 0.442, p < 0.001; r = 0.346, p < 0.001, respectively). The clinical outcomes differed among the subgroups: the total mortality was 15.4% vs. 20.0% vs. 42.9% (p < 0.05); rehospitalisation was 23.1% vs. 53.3% vs. 71.4% (p < 0.05). The highest HF progression was in the high-risk subgroup (36.7%). Regardless of the high results of the HCM-Risk Score in Polish patients, the score underestimates the real-life high level of AF incidence. The HCM-AF Risk Score seems to be useful in the prediction of the general clinical outcomes in HCM patients.

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The incidence of Autoimmune Hepatitis (AIH) increases worldwide. If undiagnosed, it may progress end-stage liver disease. Unfortunately, there is no characteristic clinical presentation of this disease, which makes the illness hard to recognize. A case report illustrates the difficulties of diagnosing the patient during his two hospitalizations and his final treatment with prednisolone which improved the patient's condition.

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