Concomitant composite adrenal pheochromocytoma, multiple gastric stromal tumours and pseudohermaphrodism in a patient with von Recklinghausen's disease

Although pheochromocytoma occurs in 1% of patients with von Recklinghausen's disease, composite tumors in this syndrome are much rarer, with isolated case reports in the literature. Most gastrointestinal stromal tumors (GISTs) are solitary and sporadic. Multiple GISTs however, are associated with clinical syndromes particularly von Recklinghausen's disease. We believe this is the first report of composite adrenal pheochromocytoma and multiple GISTs occurring in an 82 year old woman with neurofibromatosis type 1 (NF1), manifested by clitoral and subcutaneous neurofibromas, epilepsy and Lisch nodules. The extreme clitoromegaly raised concerns of pseudohermaphrodism at presentation

Reduction of the size of datasets by using evolutionary feature selection: the case of noise in a modern city

Smart city initiatives have emerged to mitigate the negative effects of a very fast growth of urban areas. Most of the population in our cities are exposed to high levels of noise that generate discomfort and different health problems. These issues may be mitigated by applying different smart cities solutions, some of them require high accurate noise information to provide the best quality of serve possible. In this study, we have designed a machine learning approach based on genetic algorithms to analyze noise data captured in the university campus. This method reduces the amount of data required to classify the noise by addressing a feature selection optimization problem. The experimental results have shown that our approach improved the accuracy in 20% (achieving an accuracy of 87% with a reduction of up to 85% on the original dataset).Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech. This research has been partially funded by the Spanish MINECO and FEDER projects TIN2016-81766-REDT (http://cirti.es), and TIN2017-88213-R (http://6city.lcc.uma.es)

‘Advocacy groups are the connectors’: Experiences and contributions of rare disease patient organization leaders in advanced neurotherapeutics

Introduction: Biomedical progress has facilitated breakthrough advanced neurotherapeutic interventions, whose potential to improve outcomes in rare neurological diseases has increased hope among people with lived experiences and their carers. Nevertheless, gene, somatic cell and other advanced neurotherapeutic interventions carry significant risks. Rare disease patient organizations (RDPOs) may enhance patient experiences, inform expectations and promote health literacy. However, their perspectives are understudied in paediatric neurology. If advanced neurotherapeutics is to optimize RDPO contributions, it demands further insights into their roles, interactions and support needs. Methods: We used a mixed-methodology approach, interviewing 20 RDPO leaders representing paediatric rare neurological diseases and following them up with two online surveys featuring closed and open-ended questions on advanced neurotherapeutics (19/20) and negative mood states (17/20). Qualitative and quantitative data were analysed using thematic discourse analysis and basic descriptive statistics, respectively. Results: Leaders perceived their roles to be targeted at educational provision (20/20), community preparation for advanced neurotherapeutic clinical trials (19/20), information simplification (19/20) and focused research pursuits (20/20). Although most leaders perceived the benefits of collaboration between stakeholders, some cited challenges around collaborative engagement under the following subthemes: conflicts of interest, competition and logistical difficulties. Regarding neurotherapeutics, RDPO leaders identified support needs centred on information provision, valuing access to clinician experts and highlighting a demand for co-developed, centralized, high-level and understandable, resources that may improve information exchange. Leaders perceived a need for psychosocial support within themselves and their communities, proposing that this would facilitate informed decision-making, reduce associated psychological vulnerabilities and maintain hope throughout neurotherapeutic development. Conclusion: This study provides insights into RDPO research activities, interactions and resource needs. It reveals a demand for collaboration guidelines, central information resources and psychosocial supports that may address unmet needs and assist RDPOs in their advocacy. Patient or Public Contribution: In this study, RDPO leaders were interviewed and surveyed to examine their perspectives and roles in advanced neurotherapeutic development. Some participants sent researchers postinterview clarification emails regarding their responses to questions

Contribution of actin filaments and microtubules to cell elongation and alignment depends on the grating depth of microgratings

Additional file 1: Figure S1. (A) A phase contrast image of TCPS surface. Bar, 100 μm. (B) An imageshowing FN-lines (1 μm line and spacing) obtained by Atomic Force Microscopy (AFM) (Dimension 3100with a Nanoscope III controller, Digital Instruments) using silicon cantilevers (spring constant; 50 Nm-1)(RTESP, Veeco Probes) in contact mode. (C-E) SEM (Scanning electron microscopy) (6010 LV, JEOL)images showing the cross section of three different microgratings; 1 μm gratings with 0.35 um depth (C) and1 μm depth (D) and 2 μm gratings with 2 μm depth (E). Figure S2. (A) Fluorescence image of a RPE-1 cell stably expressing GFP/centrin cell on 1 μm gratings (1 μm deep). Bar, 30 μm. A yellow arrow indicates the direction of cell elongation. (B) Average cell aspect ratio (R) of cells on 1 μm gratings (0.35 or 1 μm deep) and 2 μm gratings with/without CD treatment. n: number of cells. ***P < 0.001. Data were analyzed using one-way ANOVA and a Bonferroni post hoc test. Error bar denotes the standard deviation of the mean. Figure S3. Alignment of actin and vinculin to the different substrates (Flat TCPS surface, FN-lines, and 1 μm gratings (0.35 or 1μm deep)). The alignment angle was measured as an angle difference of actin or vinculin orientation to the long axis of a cell on flat PDMS surface or the long axis of the FN-line or each micrograting. #: the number of cells. Error bar denotes the standard deviation of the mean. Figure S4. Merged image of MTs (Green fluorescence) and pattern (phase contrast) of cells on 1 μm grating (1 μm deep) in the presenceof CD at 1 μM

Do you trust to get trust? A study of trust reciprocity behaviors and reciprocal trust prediction

Conference held in Columbus, Ohio</p

Surface Engineering Methods for Powder Bed Printed Tablets to Optimize External Smoothness and Facilitate the Application of Different Coatings

In a previous attempt to achieve ileo-colonic targeting of bovine intestinal alkaline phosphatase (BIAP), we applied a pH-dependent coating, the ColoPulse coating, directly on powder bed printed (PBP) tablets. However, the high surface roughness necessitated an additional sub-coating layer [Nguyen, K. T. T., Pharmaceutics 2022]. In this study, we aimed to find a production method for PBP tablets containing BIAP that allows the direct application of coating systems. Alterations of the printing parameters, binder content, and printing layer height, when combined, were demonstrated to create visually less rough PBP tablets. The addition of ethanol vapor treatment further improved the surface’s smoothness significantly. These changes enabled the direct application of the ColoPulse, or enteric coating, without a sub-coating. In vitro release testing showed the desired ileo-colonic release or upper-intestinal release for ColoPulse or enteric-coated tablets, respectively. Tablets containing BIAP, encapsulated within an inulin glass, maintained a high enzymatic activity (over 95%) even after 2 months of storage at 2–8 °C. Importantly, the coating process did not affect the activity of BIAP. In this study, we demonstrate, for the first time, the successful production of PBP tablets with surfaces that are directly coatable with the ColoPulse coating while preserving the stability of the encapsulated biopharmaceutical, BIAP.</p