Bulletin of Computer Science and Electrical Engineering (BCSEE)
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Rhabdomyosarcoma Arising in Inflammatory Rhabdomyoblastic Tumor: A Genetically Distinctive Subtype of Rhabdomyosarcoma
No full text“Inflammatory rhabdomyoblastic tumor” (IRMT) is a recently coined name for a distinctive soft tissue neoplasm characterized by slow growth, a dense histiocytic infiltrate, scattered, bizarre-appearing tumor cells with morphologic and immunohistochemical evidence of skeletal muscle differentiation, a near-haploid karyotype with retained biparental disomy of chromosomes 5 and 22, and usually indolent behavior. There are 2 reports of rhabdomyosarcoma (RMS) arising in IRMT. We studied the clinicopathologic and cytogenomic features of 6 cases of IRMT with progression to RMS.
Tumors occurred in the extremities of 5 men and 1 woman (median patient age, 50 years; median tumor size, 6.5 cm). Clinical follow-up (6 patients: median, 11 months; range 4-163 months) documented local recurrence and distant metastases in 1 and 5 of 6 patients, respectively. Therapy included complete surgical resection (4 patients) and adjuvant/neoadjuvant chemo/radiotherapy (6 patients). One patient died of disease, 4 were alive with metastatic disease, and one was without evidence of disease.
All primary tumors contained conventional IRMT. Progression to RMS appeared as follows: (1) overgrowth of monomorphic rhabdomyoblasts with diminished histiocytes, (2) monomorphic spindle cell morphology with variably pleomorphic rhabdomyoblasts and low mitotic activity, or (3) morphologically undifferentiated spindle cell and epithelioid sarcoma. All but one were diffusely desmin-positive, with more limited MyoD1/myogenin expression. All RMS arising in IRMT, either primary or metastatic, demonstrated widespread loss of heterozygosity with retained heterozygosity of chromosomes 5 and 20, and all but one displayed additional gains and losses involving loci containing oncogenes/ tumor suppressor genes, most often CDKN2A and CDKN2B.
RMS arising in IRMT have unique clinicopathologic and cytogenomic features, warranting classification as a distinct, potentially aggressive RMS subtype. It should be distinguished from other RMSs, particularly fusion-driven spindle cell RMS and pleomorphic RMS
Results from the Primary Tube Versus Trabeculectomy Study and translation to clinical practice
No full textThe Primary Tube Versus Trabeculectomy (PTVT) Study is a multicenter randomized clinical trial comparing the safety and efficacy of tube shunt surgery and trabeculectomy with mitomycin C (MMC) in eyes without previous incisional ocular surgery. This article reviews results from the PTVT Study and suggests how they may be translated to clinical practice.
Tube shunt surgery had a higher failure rate than trabeculectomy with MMC in the PTVT Study, and the difference was statistically significant at 1 year but not at 3 years and 5 years. Both surgical procedures reduced intraocular pressure (IOP) to the low teens throughout 5 years of follow-up. Mean IOPs were lower after trabeculectomy with MMC compared with tube shunt implantation, and the differences were statistically significant during the first postoperative year and at 3 years. The greater IOP reduction after trabeculectomy with MMC was achieved with significantly fewer glaucoma medications relative to tube shunt placement. Surgical complications were common in the PTVT Study, but most were transient and self-limited. The incidence of early postoperative complications was significantly higher after trabeculectomy with MMC than tube shunt surgery. The rates of late postoperative complications, cataract progression, and vision loss were similar with both surgical procedures. Serious complications producing vision loss and/or requiring a reoperation to manage the complication developed more frequently after trabeculectomy with MMC compared with tube shunt surgery, and the difference was statistically significant at 1 year but not at 3 years and 5 years postoperatively.
Tube shunt implantation and trabeculectomy with MMC are both viable surgical options for managing glaucoma in patients without previous incisional ocular surgery. Results from the PTVT Study support further expansion of tube shunt use beyond refractory glaucomas
Prediction of multiple neuropathologic changes from features available during life
No full textBackground
Neuropathologic changes are central for both understanding of the patients’ brains and making the definitive diagnosis of dementia‐related diseases. However, many of them are only obtainable post‐mortem. To make this information available while an individual is still alive, this study developed machine learning models that predict neuropathologic changes based on features obtainable during life.
Method
The multi‐site post‐mortem data (n∼5000) was obtained from National Alzheimer’s Coordinating Center. A multitask long‐short term memory‐based neural network architecture was developed with custom loss to predict the 13 neuropathologic changes from features during life measured longitudinally. The performance of the model was evaluated using entire unseen sites as test sets. Evaluation metrics include area under receiver’s operating curve (AUROC) and area under precision recall curve (AUPRC).
Result
The model was able to predict Alzheimer’s Disease neuropathologic changes (ADNC) and any Alzheimer’s‐related pathologies, such as Braak score, with great sensitivity, specificity, and precision (for example AUROC = 0.85; AUPRC = 0.96 for ADNC). Apart from these, the model can also predict hippocampal sclerosis accurately (AUROC = 0.79; AUPRC = 0.80) and Lewy Body disease at higher precision than clinician’s diagnosis. Model interpretation shows patterns in neuropsychological tests that are predictive of pathologic changes. Additionally, model error analysis revealed factors, such as resilient case ratios, that explain variation in performance between sites.
Conclusion
Patterns of measurable features during life can be used by machine learning to predict ADNC, hippocampal sclerosis, and to lesser extent Lewy Body
On the Frøyshov invariant and monopole Lefschetz number
No full textGiven an involution on a rational homology 3-sphere Y with quotient the 3-sphere, we prove a formula for the Lefschetz number of the map induced by this involution in the reduced monopole Floer homology. This formula is motivated by a variant of Witten's conjecture relating the Donaldson and Seib erg-Witten invariants of 4-manifolds. A key ingredient is a skein-theoretic argument, making use of an exact triangle in monopole Floer homology, that computes the Lefschetz number in terms of the Murasugi signature of the branch set and the sum of Froyshov invariants associated to spin structures on Y. We discuss various applications of our formula in gauge theory, knot theory, contact geometry, and 4-dimensional topology.</p
E-Selectin/AAV Gene Therapy Promotes Myogenesis and Skeletal Muscle Recovery in a Mouse Hindlimb Ischemia Model
No full textThe response to ischemia in peripheral artery disease (PAD) depends on compensatory neovascularization and coordination of tissue regeneration. Identifying novel mechanisms regulating these processes is critical to the development of nonsurgical treatments for PAD. E-selectin is an adhesion molecule that mediates cell recruitment during neovascularization. Therapeutic priming of ischemic limb tissues with intramuscular E-selectin gene therapy promotes angiogenesis and reduces tissue loss in a murine hindlimb gangrene model. In this study, we evaluated the effects of E-selectin gene therapy on skeletal muscle recovery, specifically focusing on exercise performance and myofiber regeneration. C57BL/6J mice were treated with intramuscular E-selectin/adeno-associated virus serotype 2/2 gene therapy (E-sel/AAV) or LacZ/AAV2/2 (LacZ/AAV) as control and then subjected to femoral artery coagulation. Recovery of hindlimb perfusion was assessed by laser Doppler perfusion imaging and muscle function by treadmill exhaustion and grip strength testing. After three postoperative weeks, hindlimb muscle was harvested for immunofluorescence analysis. At all postoperative time points, mice treated with E-sel/AAV had improved hindlimb perfusion and exercise capacity. E-sel/AAV gene therapy also increased the coexpression of MyoD and Ki-67 in skeletal muscle progenitors and the proportion of Myh7+ myofibers. Altogether, our findings demonstrate that in addition to improving reperfusion, intramuscular E-sel/AAV gene therapy enhances the regeneration of ischemic skeletal muscle with a corresponding benefit on exercise performance. These results suggest a potential role for E-sel/AAV gene therapy as a nonsurgical adjunct in patients with life-limiting PAD
Fundamentals of Inorganic and Organometallic Polymer Science
No full textInorganic and organometallic polymers feature many attractive properties that are useful for the design of diverse functional materials. Emphasising concepts that inform polymer design, synthesis and applications, readers of this book will gain a complete understanding of the introduction to inorganic and organometallic polymer science that will further their studies in materials science, chemistry and engineering.The first chapter lays down the core concepts that the book builds from, including polymerisation and naming conventions. It also reveals why some organometallic polymers are better suited than organic polymers in certain applications. Subsequent chapters discuss the chemistry of metals in particular the transition metals as they relate to polymer properties, before walking the reader through in-depth chapters on synthesis, structure, properties, characterization, and examples of inorganic and organometallic polymers. The final chapter presents applications of these polymers in diverse fields ranging from biomedicine, energy to catalysis. Worked examples and exercises are provided at the end of each chapter to assist students in assessing their understanding of these concepts, and journal references are included to direct students to published literature related to inorganic and organometallic polymers.Ideal for lecturers teaching a one semester advanced undergraduate and graduate courses in polymer science, as well as for self-study researchers and industrial chemists that are working with polymers, this book provides the user with a complete and expert grounding to the field
Stony coral tissue loss disease intervention with amoxicillin leads to a reversal of disease-modulated gene expression pathways
No full textGastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
No full textAbstractGastrointestinal symptoms are common in most forms of neurodevelopment disorders (NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome measures with validated questionnaires used in the general population of children without NDDS cannot be used in the autistic individuals. We explore here the multifactorial pathophysiology of ASD and the role of genetics and the environment in this disease spectrum and focus instead on possible diagnostics that could provide future objective insight into the connection of the gut-brain-microbiome in this disease entity. We provide our own data from both humans and a zebrafish model of ASD called Phelan-McDermid Syndrome. We hope that this review highlights the gaps in our current knowledge on many of these profound NDDs and that it provides a future framework upon which clinicians and researchers can build and network with other interested multidisciplinary specialties
The playbook : how to deny science, sell lies, and make a killing in the corporate world
No full textExpert opinions and negative externalities do not decrease support for anti-price gouging policies
No full textDuring disasters, citizens call for “anti-price gouging” policies. However, majorities of economists oppose such policies. For democracy to function, citizens should be responsive to policy-relevant information—especially from experts. What impact does exposure to the potential negative externalities have on public support for anti-price gouging policies? We hypothesize that if the public were exposed to such information, they would be less supportive of anti-gouging policies. We employ two survey experiments: one administered in Florida ( n = 2085), a state prone to hurricane activity, and the second in the United States ( n = 2023) at the onset of the COVID-19 pandemic. Both show that the public overwhelmingly supports anti-price gouging policies, regardless of exposure to information about negative externalities, even when it comes from experts