The Autoimmune Tautology: An In Silico Approach

There is genetic evidence of similarities and differences among autoimmune diseases (AIDs) that warrants looking at a general panorama of what has been published. Thus, our aim was to determine the main shared genes and to what extent they contribute to building clusters of AIDs. We combined a text-mining approach to build clusters of genetic concept profiles (GCPs) from the literature in MedLine with knowledge of protein-protein interactions to confirm if genes in GCP encode proteins that truly interact. We found three clusters in which the genes with the highest contribution encoded proteins that showed strong and specific interactions. After projecting the AIDs on a plane, two clusters could be discerned: Sjögren's syndrome—systemic lupus erythematosus, and autoimmune thyroid disease—type1 diabetes—rheumatoid arthritis. Our results support the common origin of AIDs and the role of genes involved in apoptosis such as CTLA4, FASLG, and IL10

Failed limb salvage by microsurgery, resolved by super-microsurgery

Advances in perforating artery flaps have improved reconstruction in various body parts, particularly the lower extremities, offering benefits in patient quality of life and reduced public health service costs. The use of flaps and microsurgery extends beyond trauma to address conditions like osteomyelitis, tumor resection, osteoarthritis, and post-radiation necrosis. Notably, the superficial circumflex iliac artery perforator flap (SCIP) is highlighted for its thin profile and utility in limb coverage, minimizing donor site morbidity. Microsurgical techniques contribute to limb salvage, reducing amputation risks in severe fractures and post-osteosynthesis complications. A 29-year-old male with cerebral palsy suffered bimalleolar fracture from a high-energy motor vehicle accident. Initial ALT flap reconstruction failed, leading to flap removal and osteosynthesis exposure. After 48 hours, removal of the flap was necessary due to venous thrombosis. Salvage with SCIP flap involved anastomosis to perforators of both posterior tibial artery and vein. This case details a patient with a bimalleolar fracture post-motorcycle accident, initially treated with conventional microsurgery using an ALT flap. Complications arose from venous thrombosis, necessitating flap removal. Salvage was achieved through a SCIP flap with supermicrosurgery techniques, employing 0.5 mm anastomosis for improved functionality and reduced complications in flap recovery and donor site comorbidities. Successful outcomes in microsurgery and supermicrosurgery necessitate comprehensive training. Specialized limb salvage centers must possess specific equipment and instruments for these techniques. The literature reviewed doesn't indicate contraindications related to the patient's mental state for the execution of microsurgery and supermicrosurgery

Microvascular cutaneous coverage in wounds that expose the Achilles tendon: case report

Achilles tendon rupture, being one of the main tendon ruptures present, surgery being the most favourable option even taking into account complications such as infections and skin necrosis, it is necessary to develop techniques which help to reduce complications and increase benefits. The methods follow-up of 2 cases of patients with skin defects in the region of the Achilles tendon in patients who were treated at the "Luis Guillermo lbarra lbarra" national rehabilitation institute during the period 2020-2021 in the Traumatology service, treated with radial free flap forearm, using the description of the most used flaps in the literature. Results in both cases integrity of the free radial forearm flap in its entirety, functional recovery for walking, ability to put shoes back on, and without the need for reoperation, as well as a high level of satisfaction by patients. Conclusions if we are talking about an Achilles tendon rupture with a significant skin defect, the free radial forearm flap is an adequate option, if we are talking about a complete defect, the composite flap is the best option, remember that the decision on what type of flap will be used will depend on of the size of the lesion

Caecal metastasis from breast cancer presenting as intestinal obstruction

<p>Abstract</p> <p>Background</p> <p>Gastrointestinal metastsasis from the breast cancer are rare. We report a patient who presented with intestinal obstruction due to solitary caecal metastasis from infiltrating ductal carcinoma of breast. We also review the available literature briefly.</p> <p>Case presentation</p> <p>A 72 year old lady with past history of breast cancer presented with intestinal obstruction due to a caecal mass. She underwent an emergency right hemicolectomy. The histological examination of the right hemicolectomy specimen revealed an adenocarcinoma in caecum staining positive for Cytokeratin 7 and Carcinoembryonic antigen and negative for Cytokeratin 20, CDX2 and Estrogen receptor. Eight out of 11 mesenteric nodes showed tumour deposits. A histological diagnosis of metastatic breast carcinoma was given.</p> <p>Conclusion</p> <p>To the best of our knowledge, this is the first case report of solitary metastasis to caecum from infiltrating ductal carcinoma of breast. Awareness of this possibility will aid in appropriate management of such patients.</p

Domestication Syndrome in Caimito (Chrysophyllum cainito L.): Fruit and Seed Characteristics

Domestication Syndrome in Caimito (Chrysophyllum cainitoL.): Fruit and Seed Characteristics: The process of domestication is understudied and poorly known for many tropical fruit tree crops. The star apple or caimito tree (Chrysophyllum cainito L., Sapotaceae) is cultivated throughout the New World tropics for its edible fruits. We studied this species in central Panama, where it grows wild in tropical moist forests and is also commonly cultivated in backyard gardens. Using fruits collected over two harvest seasons, we tested the hypothesis that cultivated individuals of C. cainito show distinctive fruit and seed characteristics associated with domestication relative to wild types. We found that cultivated fruits were significantly and substantially larger and allocated more to pulp and less to exocarp than wild fruits. The pulp of cultivated fruits was less acidic; also, the pulp had lower concentrations of phenolics and higher concentrations of sugar. The seeds were larger and more numerous and were less defended with phenolics in cultivated than in wild fruits. Discriminant Analysis showed that, among the many significant differences, fruit size and sugar concentration drove the great majority of the variance distinguishing wild from cultivated classes. Variance of pulp phenolics among individuals was significantly higher among wild trees than among cultivated trees, while variance of fruit mass and seed number was significantly higher among cultivated trees. Most traits showed strong correlations between years. Overall, we found a clear signature of a domestication syndrome in the fruits of cultivated caimito in Panama

Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.Research reported in this publication was supported by the National Institutes of Health (NIH): R01AR073855 (C.J.L.), R01AR065953 (C.J.L.), R01AR074310 (A.D.F.), P50AR060804 (K.L.S.), R01AR050782 (K.L.S), R01DE018209 (K.L.S.), R33AR076803 (I.A.), R21AR079089 (I.A.); NIDCR Sjögren’s Syndrome Clinic and Salivary Disorders Unit were supported by NIDCR Division of Intramural Research at the National Institutes of Health funds - Z01-DE000704 (B.W.); Birmingham NIHR Biomedical Research Centre (S.J.B.); Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy – EXC 2155 – Projektnummer 390874280 (T.W.); Research Council of Norway (Oslo, Norway) – Grant 240421 (TR.R.), 316120 (M.W-H.); Western Norway Regional Health Authority (Helse Vest) – 911807, 912043 (R.O.); Swedish Research Council for Medicine and Health (L.R., G.N., M.W-H.); Swedish Rheumatism Association (L.R., G.N., M.W-H.); King Gustav V’s 80-year Foundation (G.N.); Swedish Society of Medicine (L.R., G.N., M.W-H.); Swedish Cancer Society (E.B.); Sjögren’s Syndrome Foundation (K.L.S.); Phileona Foundation (K.L.S.). The Stockholm County Council (M.W-H.); The Swedish Twin Registry is managed through the Swedish Research Council - Grant 2017-000641. The French ASSESS (Atteinte Systémique et Evolution des patients atteints de Syndrome de Sjögren primitive) was sponsored by Assistance Publique-Hôpitaux de Paris (Ministry of Health, PHRC 2006 P060228) and the French society of Rheumatology (X.M.).publishedVersio

Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.

Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.We thank all the research and clinical staff, consortium investigators, and study participants (detailed in Supplementary Information), and funding agencies who made this study possible. The content of this publication is solely the responsibility of the authors and does not represent the official views of the funding agencies listed below. Research reported in this publication was supported by the National Institutes of Health (NIH): R01AR073855 (C.J.L.), R01AR065953 (C.J.L.), R01AR074310 (A.D.F.), P50AR060804 (K.L.S.), R01AR050782 (K.L.S), R01DE018209 (K.L.S.), R33AR076803 (I.A.), R21AR079089 (I.A.); NIDCR Sjögren’s Syndrome Clinic and Salivary Disorders Unit were supported by NIDCR Division of Intramural Research at the National Institutes of Health funds - Z01-DE000704 (B.W.); Birmingham NIHR Biomedical Research Centre (S.J.B.); Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy – EXC 2155 – Projektnummer 390874280 (T.W.); Research Council of Norway (Oslo, Norway) – Grant 240421 (TR.R.), 316120 (M.W-H.); Western Norway Regional Health Authority (Helse Vest) – 911807, 912043 (R.O.); Swedish Research Council for Medicine and Health (L.R., G.N., M.W-H.); Swedish Rheumatism Association (L.R., G.N., M.W-H.); King Gustav V’s 80-year Foundation (G.N.); Swedish Society of Medicine (L.R., G.N., M.W-H.); Swedish Cancer Society (E.B.); Sjögren’s Syndrome Foundation (K.L.S.); Phileona Foundation (K.L.S.). The Stockholm County Council (M.W-H.); FOREUM Foundation for Research in Rheumatology (R.J., M.W-H). The Swedish Twin Registry is managed through the Swedish Research Council - Grant 2017-000641. The French ASSESS (Atteinte Systémique et Evolution des patients atteints de Syndrome de Sjögren primitive) was sponsored by Assistance Publique-Hôpitaux de Paris (Ministry of Health, PHRC 2006 P060228) and the French society of Rheumatology (X.M.). We want to acknowledge the following invesigators who recruited patients: Jacques-Eric Gottenberg, Valerie Devauchelle-Pensec, Jean Jacques Dubost, Anne-Laure Fauchais, Vincent Goeb, Eric Hachulla, Claire Larroche, Véronique Le Guern, Jacques Morel, Aleth Perdriger, Emmanuelle Dernis, Stéphanie Rist, Damien Sene, Olivier Vittecoq. We also thank Sarah Tubiana and all staff members of the Bichat Hospital Biological Resource Center (Paris) for centralizing and managing biological collection. We also thank Rezvan Kiani Dehkordi, Karolina Tandre, Käth Nilsson, Marianne Eidsheim, Kjerstin Jacobsen, Ingeborg Kvivik and Kjetil Bårdsen for collecting patient blood samples. We acknowledge the SNP&SEQ Technology Platform, Uppsala, part of National Genomics Infrastructure (NGI) Sweden, for genotyping of Scandinavian samples, and the Swedish Twin Registry for access to data. The SNP&SEQ Technology Platform was supported by Science for Life Laboratory, Uppsala University, the Knut and Alice Wallenberg Foundation and the Swedish Research Council. Last, we thank the investigators for the following dbGaP studies: Phs000428.v2.p2: This study used control data from the Health and Retirement Study in dbGaP (phs000428.v2.p2) submitted by David Weir, PhD at the University of Michigan and funded by the National Institute of Aging RC2 AG036495 and RC4 AG039029. Phs000672.v1.p1: Genotype data from the Sjögren’s International Collaborative Clinical Alliance (SICCA) Registry was obtained through dbGAP accession number phs000672.v1.p1. This study was supported by the National Institute of Dental and Craniofacial Research (NIDCR), the National Eye Institute, and the Office of Research on Women’s Health through contract number N01-DE-32636. Genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health (NIH) to the Johns Hopkins University (contract numbers HHSN268200782096C, HHSN268201100011I, HHSN268201200008I). Funds for genotyping were provided by the NIDCR through CIDR’s NIH contract. Assistance with data cleaning and imputation was provided by the University of Washington. We thank investigators from the following studies that provided DNA samples for genotyping: the Genetic Architecture of Smoking and Smoking Cessation, Collaborative Genetic Study of Nicotine Dependence (phs000404.v1.p1); Age-Related Eye Disease Study (AREDS) - Genetic Variation in Refractive Error Substudy (phs000429.v1.p1); and National Institute of Mental Health’s Human Genetics Initiative (phs000021.v3.p2, phs000167.v1.p1). We thank the many clinical collaborators and research participants who contributed to this research. Phs000196.v3.p1: Investigators and Parkinson Disease patients that contributed to this Genome-wide Association Study of Parkinson Disease. phs000187.v1.p1: Research support to collect data and develop an application to support the High Density SNP Association Analysis of Melanoma project was provided by 3P50CA093459, 5P50CA097007, 5R01ES011740, and 5R01CA133996

An open-access database and analysis tool for perovskite solar cells based on the FAIR data principles

Large datasets are now ubiquitous as technology enables higher-throughput experiments, but rarely can a research field truly benefit from the research data generated due to inconsistent formatting, undocumented storage or improper dissemination. Here we extract all the meaningful device data from peer-reviewed papers on metal-halide perovskite solar cells published so far and make them available in a database. We collect data from over 42,400 photovoltaic devices with up to 100 parameters per device. We then develop open-source and accessible procedures to analyse the data, providing examples of insights that can be gleaned from the analysis of a large dataset. The database, graphics and analysis tools are made available to the community and will continue to evolve as an open-source initiative. This approach of extensively capturing the progress of an entire field, including sorting, interactive exploration and graphical representation of the data, will be applicable to many fields in materials science, engineering and biosciences

Effects of Engineered Nanoparticles on the Assembly of Exopolymeric Substances from Phytoplankton

The unique properties of engineered nanoparticles (ENs) that make their industrial applications so attractive simultaneously raise questions regarding their environmental safety. ENs exhibit behaviors different from bulk materials with identical chemical compositions. Though the nanotoxicity of ENs has been studied intensively, their unintended environmental impacts remain largely unknown. Herein we report experimental results of EN interactions with exopolymeric substances (EPS) from three marine phytoplankton species: Amphora sp., Ankistrodesmus angustus and Phaeodactylum tricornutum. EPS are polysaccharide-rich anionic colloid polymers released by various microorganisms that can assemble into microgels, possibly by means of hydrophobic and ionic mechanisms. Polystyrene nanoparticles (23 nm) were used in our study as model ENs. The effects of ENs on EPS assembly were monitored with dynamic laser scattering (DLS). We found that ENs can induce significant acceleration in Amphora sp. EPS assembly; after 72 hours EN-EPS aggregation reached equilibrium, forming microscopic gels of ∼4–6 µm in size. In contrast, ENs only cause moderate assembly kinetic acceleration for A. angustus and P. tricornutum EPS samples. Our results indicate that the effects of ENs on EPS assembly kinetics mainly depend on the hydrophobic interactions of ENs with EPS polymers. The cycling mechanism of EPS is complex. Nonetheless, the change of EPS assembly kinetics induced by ENs can be considered as one potential disturbance to the marine carbon cycle