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This paper proposes a modification for the symbolic synthesis method of analog circuits using admittance matrix expansion. The modification involves a generalization of the synthesis approach to employ mirror elements (voltage mirrors and current mirrors) in the admittance matrix expansion and ideal description of active elements, rather than using only nullor elements (nullators and norators). Accordingly, more alternative ideal representations, based on nullor-mirror elements, can be realized and a wide range of active elements can be used in the circuit synthesis. Systematic synthesis of the CCII-based generalized impedance converters (GICs) is presented as an application example to illustrate the potential of this generalized approach. Multiple equivalent nullor-mirror realizations for the GIC could be extracted easily, by virtue of using mirror elements in the admittance matrix expansion. Consequently, numerous circuit realizations, spanning various combinations of CCII types, have been generated in a simple and direct way. Index Terms--Active-RC circuits, active circuit synthesis, admittance matrix, nullor, pathological element.

The paper presents the design of an autonomous, wheeless, mechanical snake robot that was modeled and built at Notre Dame University – Louaize. The robot is also capable of 3D motion with an ability to climb in the z-direction. The snake is made of a series links, each containing one to three high torque DC motors and a gearing system. They are connected to each other through Aluminum hollow rods that can be rotated through a 180° span. This allows the snake to move in various environments including unfriendly and cluttered ones. The front link has a proximity sensor used to map the environment. This mapping is sent to a microcontroller which controls and adapts the motion pattern of the snake. The snake can therefore choose to avoid obstacles, or climb over them if their height is within its range. The presented model is made of five links, but this number can be increased as their role is repetitive. The novel design is meant to overcome previous limitations by allowing 3D motion through electric actuators and low energy consumption.

Background: An anal fistula is a prevalent condition characterised by an abnormal connection between the epithelialised surface of the anal canal and the skin. Surgeons are continually developing new techniques to effectively treat anal fistulae while preserving the patient's continence. This study aims to evaluate the outcomes and complications associated with the management of high perianal fistulae using the fascia lata biological plug (FBP) technique., Methods: This prospective cohort study included all adult patients who presented to the Kasr Al-Ainy Outpatient Surgery Clinic, Cairo, Egypt, between March 2020 and December 2021, with a single-tract high perianal fistula., Results: A total of 46 eligible patients were included in the study. The insertion of the FBP was associated with complete healing without recurrence in 37 patients (80.4%) at six months post-surgery. Among the 46 patients, only nine (19.6%) experienced fistula recurrence. The recurrence rate increased to 30.4% at 18 months post-surgery, resulting in an overall success rate of 69.6%. Complete continence was maintained in all patients. At 18 months, extra-sphincteric (14.3% vs 0.0%) and supra-sphincteric (21.4% vs 0.0%) types exhibited significantly higher recurrence rates (p=0.006). Anterior fistulae also demonstrated a significantly higher recurrence rate compared to posterior fistulae (64.3% vs 25.0%, p=0.011)., Conclusions: The use of a FBP for the treatment of single-tract high perianal fistulae yields promising results without compromising patients' continence. It is essential to consider the type and nature of the anal fistula when selecting the most appropriate procedure for effective treatment., Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. Research Ethics Committee of Faculty of Medicine at Cairo University, Egypt issued approval MD-155-2020. The Research Ethics Committee (REC) has reviewed and approved the above-mentioned protocol. You may begin your investigation. Approval is granted for one year from the date of initial approval. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Moustafa et al.)

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.

Purpose: FLVCR1 encodes a solute carrier protein implicated in heme, choline, and ethanolamine transport. Although Flvcr1 -/- mice exhibit skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia (DBA), biallelic FLVCR1 variants in humans have previously only been linked to childhood or adult-onset ataxia, sensory neuropathy, and retinitis pigmentosa., Methods: We identified individuals with undiagnosed neurodevelopmental disorders and biallelic FLVCR1 variants through international data sharing and characterized the functional consequences of their FLVCR1 variants., Results: We ascertained 30 patients from 23 unrelated families with biallelic FLVCR1 variants and characterized a novel FLVCR1-related phenotype: severe developmental disorders with profound developmental delay, microcephaly (z-score -2.5 to -10.5), brain malformations, epilepsy, spasticity, and premature death. Brain malformations ranged from mild brain volume reduction to hydranencephaly. Severely affected patients share traits, including macrocytic anemia and skeletal malformations, with Flvcr1 -/- mice and DBA. FLVCR1 variants significantly reduce choline and ethanolamine transport and/or disrupt mRNA splicing., Conclusion: These data demonstrate a broad FLVCR1-related phenotypic spectrum ranging from severe multiorgan developmental disorders resembling DBA to adult-onset neurodegeneration. Our study expands our understanding of Mendelian choline and ethanolamine disorders and illustrates the importance of anticipating a wide phenotypic spectrum for known disease genes and incorporating model organism data into genome analysis to maximize genetic testing yield., Competing Interests: Conflict of Interest James R. Lupski has stock ownership in 23andMe, is a paid consultant for Genome International, and is a coinventor on multiple US and European patents related to molecular diagnostics for inherited neuropathies, eye diseases, genomic disorders, and bacterial genomic fingerprinting. The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing conducted at Baylor Genetics Laboratories. Amber Begtrup and Houda Elloumi are employees of GeneDx, LLC. All other authors declare no conflicts of interest., (Copyright © 2024 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)