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Background: The Angelman Syndrome Registry (RISA) was developed as a retrospective study with the following objectives: to evaluate the clinical history of individuals with Angelman Syndrome (AS) in Italy and compare it with the existing literature; to investigate the feasibility of gathering data by directly involving participants in the data collection process; and to explore the relationship between different symptoms and genotypes. Methods: Established in 2018, RISA enrolled a total of 82 participants, with 62 (75.6%) providing complete data. Demographic, clinical, and genetic information was collected using electronic case report forms. Descriptive statistics characterized the sample, while associations between genotype and clinical characteristics were examined. Results: Descriptive analysis revealed a median participant age of 8.0 years, with males comprising 48.8% of the sample. Deletion (58.1%) was the most common genotype. The majority (82.2%) experienced epilepsy, with seizures typically onset before 3 years of age. Most patients (86.2%) required multiple anti-epileptic drugs for control, with generalized tonic-clonic seizures and atypical absence seizures being most prevalent. The deletion group exhibited more severe developmental delays and a trend towards higher seizure severity. Sleep problems affected 69.4% of participants, characterized by difficulties in sleep onset and maintenance. Conclusions: This study offers valuable insights into the clinical history and genetic characteristics of AS in Italy, consistent with the prior literature. Additionally, it underscores the efficacy of patient registries in capturing comprehensive data on rare diseases such as AS, highlighting their potential to advance research and enhance patient care.

Background: Pneumothorax (PNX), pulmonary hemorrhage, hemothorax and chest wall hematoma are the most commonly reported complications of percutaneous lung biopsy (PLB). Sealing the biopsy tract with different types of materials is an emerging way to prevent PLB complications., Methods: To investigate the safety and efficacy of a new device, Minimally Invasive Percutaneous Procedure Kit for Pneumothorax (MIPP-Kit PNX), when used in association with a resorbable bio-compatible glue in the prevention of PLB complications. A prospective, multicenter, open-label, single-arm study was performed to evaluate the complication rate after glue administration by the new investigational device during PLBs., Results: Fourty-three patients were enrolled after informed consent signature (40 underwent PLB, while three were screening failures). Only 3 patients (7.5%, 95% CI: 0.0-15.7%) developed complications within 48 h after glue injection during PLB: two developed minor pneumothoraces and one a pulmonary hemorrhage. No patients who showed procedural complications before glue administration were reported with any recurrent or new complications after glue administration., Conclusions: In comparison with the data reported in the literature, this trial results support the safe and effective use of the MIPP kit PNX in the prevention of PLB complications. These promising preliminary results warrant further confirmation in larger clinical trials., Trial Registration: ClinicalTrials.gov identifier: NCT04071509., Competing Interests: Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tcr.amegroups.com/article/view/10.21037/tcr-22-1203/coif). PLC has been VP Clinical Operations at Betaglue after the study started until its completion. AA has been CEO/CMO at Betaglue for the entire duration of the study. The other authors have no conflicts of interest to declare., (2022 Translational Cancer Research. All rights reserved.)

Background/aim: BAT-90 is an innovative active implantable device designed for the irradiation of unresectable tumors (e.g., liver cancer) or surgical tumor beds, based on the combination of Yttrium-90 beta-emitting microspheres and a tissue adhesive hydrogel, currently used in cardio-vascular surgery. The rationale behind BAT-90 is to localize the Yttrium-90 activity on the administration site, while minimizing its body dispersion., Materials and Methods: The effective induction of necrosis in the target injection area was tested in a pig liver model, whereas the safety of BAT-90 was assessed and demonstrated in biocompatibility tests for acute systemic toxicity, intracutaneous reactivity, delayed hypersensitivity and subcutaneous implantation., Results: BAT-90 administration induced necrosis into the target site, while the safety experiments in the treated animals highlighted results very similar to the controls., Conclusion: BAT-90 could be considered as a safe and innovative treatment option for inoperable solid tumors of the liver., (Copyright © 2022, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

Background/aim: The need to concentrate the anti-tumoral activity of 90 Y only to the targeted tumor, while minimizing its off-target effects, led to the development of an innovative device (BAT-90) composed of a hydrogel matrix and 90 Y microspheres., Materials and Methods: This in vivo randomized study was planned to assess the efficacy, safety, and biodistribution of BAT-90 in 46 rabbits implanted with a VX2 tumor. The effects of BAT-90 were compared to those of 90 Y microspheres and the hydrogel matrix., Results: BAT-90 localized effectively the 90 Y radiation in the injection site, minimizing dispersion of the microspheres in the target and distant organs of the treated animals., Conclusion: BAT-90 can be administered as an adjuvant treatment to clear surgical margins from any potential minimal residual disease, or as an alternative to other loco-regional treatments for non-resectable tumors., (Copyright © 2022 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

The pharmacokinetics of nelfinavir tablets (A) and an oral simplified nelfinavir suspension (B) were studied. Twelve healthy volunteers randomly received either five 250-mg nelfinavir tablets or a simplified oral suspension obtained from tablets dissolved in water (nelfinavir 1250 mg in 100 mL of water) in a single dose before being crossed over to the second treatment after a one-week washout period. Blood samples were drawn up to 24 h after drug administration. Nelfinavir concentrations in plasma were analyzed by a specific and validated reverse-phase high-performance liquid chromatography assay (HPLC) with UV detection, and pharmacokinetic values were determined. For the AUC(0-infinity) with means+/-SD of 31.71+/-7.85, 30.88+/-10.28 (microg/L) respectively for treatments B and A, the ratio (F(B/A)) was of 1.1 with a C.I. of 0.90-1.24. For Cmax with means+/-SD of 3.1+/-0.6 (treatment B) and 3.2+/-0.8 mg/mL (treatment A), the ratio was 1.0. with C.I. of 0.92-1.08. The two treatments evidenced no significant differences in AUC(0-inifnity) and Cmax values and the two-one sided t-test showed that the two preparations are bioequivalent. There was no significant difference in Tmax between the liquid and tablets. Nelfinavir suspension might be a option for treating HIV-infected patients with swallowing disturbances or compliance problems.

The impact of a 3-month continuous administration of transdermal estradiol (E2-TTS 50; 50 micrograms/day) or oral conjugated estrogen (CE; 0.625 mg/day) on glucose and lipid metabolism was investigated in two groups (n = 15/group) of postmenopausal women. Fasting levels of glucose, insulin, and C-peptide; C-peptide/insulin ratio (index of hepatic insulin clearance); and their responses to a 75-g oral glucose tolerance test (OGTT) were evaluated before and after 3 months of continuous estrogen administration. E2-TTS 50 modified carbohydrate metabolism, decreasing fasting insulin levels (P less than 0.01) and increasing the pancreatic islet response to glucose challenges, as indicated by an increased integrated value of the C-peptide curve associated with OGTT (P less than 0.05). Despite greater C-peptide secretion, integrated peripheral insulin after OGTT was decreased (P less than 0.05). The resulting increase in the integrated curve of the molar C-peptide/insulin ratio (P less than 0.01) indicated elevated hepatic insulin clearance after E2-TTS 50 administration. CE treatment did not modify carbohydrate metabolism, except for reducing fasting glucose levels (P less than 0.01). Neither therapy modified lipid metabolism, but a slight increase in circulating triglycerides (P less than 0.01) was observed during CE administration. Our data show that the addition of low doses of natural estrogens does not negatively influence glucose and lipid metabolism in postmenopausal women. By contrast, reversal of postmenopausal hypoestrogenism to early follicular phase estrogenic values with E2-TTS 50 administration seems to exert a beneficial effect on glucose metabolism by increasing hepatic insulin clearance.

This report describes the efficacy of biosynthetic human insulin (BHI) in long-term (one year) therapy of type I diabetic patients previously treated with conventional insulins. The results were compared with those obtained in a group of diabetic patients kept on their usual treatment. In the latter, fasting plasma glucose, HbA1, insulin dose and relative proportions of insulin formulations remained constant throughout the study. In patients switched to BHI, hypoglycaemic episodes occurred during the first week of treatment and fasting plasma glucose was higher than basally at the first two visits (7th and 30th days). Both hypoglycaemia and high fasting plasma glucose were avoided by reducing the amount of short-acting insulin and increasing that of intermediate-acting insulin, so that the short-acting/intermediate-acting insulin ratio was significantly lower during BHI therapy, although the total daily insulin dose remained unchanged. HbA1 levels remained fairly constant throughout the study. It was concluded that in order to achieve full clinical efficacy of BHI, it is important to modify the proportions of short- and intermediate-acting insulin preparations accurately when switching patients from conventional insulin to biosynthetic human insulin.