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  1. 58341
    “…At age of 45 presented dizziness, paresthesia, cramps, had the diagnosis of Hyperparathyroidism related to multinodular parathyroid hyperplasia (Calcium 14mg/dL, PTH 117 pg/mL) and macroprolactinoma (prolactin 235 ng/mL; pituitary tumor 1.2 X 1.0 cm). All siblings and her mother were recruited and one brother, aged 45 years confirmed the diagnosis of hyperparathyroidism and nephrocalcinosis. …”
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    SUN-916 Novel Germline p.Gly42Arg MEN1 Missense Mutation in a Family Harboring Very Aggressive Pancreatic Tumor, Hyperparathyroidism and Pituitary Tumor
  2. 58342
    “…She was born at term to a 42 years old G3P2A1 mother and her 45 years old unrelated husband with normal weight, length and head circumference. …”
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    MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development
  3. 58343
    por Proudan, Nikoletta, Andre, Kersthine
    Publicado 2020
    “…A 42-year-old female with history of migraines presented to her gynecologist with a 3-week history of lower abdominal cramping, vomiting, loss of appetite, and abnormal vaginal bleeding. …”
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    SUN-513 Severe Hyperthyroidism in a Complete Molar Pregnancy
  4. 58344
    “…Serum DLK1 levels were undetectable (<0.4 ng/mL) in this girl, supporting that the deletion lead to complete lack of DLK1 production. Her father, mother and sister had normal serum DLK1 levels (ranged 6.36 ng/mL to 8.98 ng/mL). …”
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    SUN-089 Novel Genetic and Biochemical Findings of DLK1 Deficiency in Children with Central Precocious Puberty - a Collaborative Brazilian-Spanish Study
  5. 58345
    “…WES revealed a rare de novo heterozygous in-frame deletion mutation in LRP5, providing a plausible biological mechanism for her clinical presentation, and further contributing to the increasing genetic heterogeneity of juvenile onset primary osteoporosis and LRP5-related bone disorders. …”
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    SAT-LB68 A Rare De Novo Mutation in LRP5 Gene in an Adolescent Female With Juvenile Onset Primary Osteoporosis
  6. 58346
    “…The ultimate goal was to determine total daily insulin requirements while ingesting her home CS doses and to transition to long acting insulin. …”
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    SUN-698 Management of Hyperglycemia in an Adult Patient with Glycogen Storage Disease Type 1b
  7. 58347
    “…After initiation of enzyme replacement therapy (ERT), her plasma and CSF PLP levels normalized to 6.3 and 1.4 mcg/L, respectively, with a ratio of 0.23. …”
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    SAT-382 Pyridoxal 5’-Phosphate Cerebrospinal Fluid Abnormalities in Hyopophosphatasia Before and After Enzyme Replacement Therapy
  8. 58348
    “…She reported having exertional chest pain for a couple of months. Her home medications included metoprolol succinate 50 mg daily, hydralazine 50 mg twice daily, Imdur 30 mg daily, and levothyroxine 300 mcg daily which the patient reported taking rarely. …”
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    SAT-460 Myxedema Coma Mimicking Cardiogenic Shock Treated with Levothyroxine
  9. 58349
    por Kos, Zuzana, Roblin, Elvire, Kim, Rim S., Michiels, Stefan, Gallas, Brandon D., Chen, Weijie, van de Vijver, Koen K., Goel, Shom, Adams, Sylvia, Demaria, Sandra, Viale, Giuseppe, Nielsen, Torsten O., Badve, Sunil S., Symmans, W. Fraser, Sotiriou, Christos, Rimm, David L., Hewitt, Stephen, Denkert, Carsten, Loibl, Sibylle, Luen, Stephen J., Bartlett, John M. S., Savas, Peter, Pruneri, Giancarlo, Dillon, Deborah A., Cheang, Maggie Chon U., Tutt, Andrew, Hall, Jacqueline A., Kok, Marleen, Horlings, Hugo M., Madabhushi, Anant, van der Laak, Jeroen, Ciompi, Francesco, Laenkholm, Anne-Vibeke, Bellolio, Enrique, Gruosso, Tina, Fox, Stephen B., Araya, Juan Carlos, Floris, Giuseppe, Hudeček, Jan, Voorwerk, Leonie, Beck, Andrew H., Kerner, Jen, Larsimont, Denis, Declercq, Sabine, Van den Eynden, Gert, Pusztai, Lajos, Ehinger, Anna, Yang, Wentao, AbdulJabbar, Khalid, Yuan, Yinyin, Singh, Rajendra, Hiley, Crispin, Bakir, Maise al, Lazar, Alexander J., Naber, Stephen, Wienert, Stephan, Castillo, Miluska, Curigliano, Giuseppe, Dieci, Maria-Vittoria, André, Fabrice, Swanton, Charles, Reis-Filho, Jorge, Sparano, Joseph, Balslev, Eva, Chen, I-Chun, Stovgaard, Elisabeth Ida Specht, Pogue-Geile, Katherine, Blenman, Kim R. M., Penault-Llorca, Frédérique, Schnitt, Stuart, Lakhani, Sunil R., Vincent-Salomon, Anne, Rojo, Federico, Braybrooke, Jeremy P., Hanna, Matthew G., Soler-Monsó, M. Teresa, Bethmann, Daniel, Castaneda, Carlos A., Willard-Gallo, Karen, Sharma, Ashish, Lien, Huang-Chun, Fineberg, Susan, Thagaard, Jeppe, Comerma, Laura, Gonzalez-Ericsson, Paula, Brogi, Edi, Loi, Sherene, Saltz, Joel, Klaushen, Frederick, Cooper, Lee, Amgad, Mohamed, Moore, David A., Salgado, Roberto
    Publicado 2020
    “…Stromal tumor-infiltrating lymphocytes (sTILs) are important prognostic and predictive biomarkers in triple-negative (TNBC) and HER2-positive breast cancer. Incorporating sTILs into clinical practice necessitates reproducible assessment. …”
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    Pitfalls in assessing stromal tumor infiltrating lymphocytes (sTILs) in breast cancer
  10. 58350
    “…In age-matched analyses, tumor breast tissue appeared 12 and 13 years older in DNAm age than adjacent-normal and normal breast tissue (p = 4.0 × 10(−6) and 1.0 × 10(−6), respectively). Both HER2+ and hormone-receptor positive subtypes demonstrated significant acceleration in DNAm ages (p = 0.04 and 3.8 × 10(−6), respectively), while no apparent DNAm age acceleration was observed for triple-negative breast tumors. …”
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    Estimating breast tissue-specific DNA methylation age using next-generation sequencing data
  11. 58351
    por Martínez-García, M., Bal-Alvarado, M., Santos Guerra, F., Ares-Rico, R., Suárez-Gil, R., Rodríguez-Álvarez, A., Pérez-López, A., Casariego-Vales, E., Fernández Rial, Álvaro, Rabuñal Rey, Ramón, Rodríguez Álvarez, Ana, Pérez López, Antía, Golpe Gómez, Rafael, Gil Mouce, Cristina, Suárez Ramírez, Nicolás, Almuiña Simón, Carmen, José Cereijo Quinteiro, María, Daporta Rodríguez, Luis, Fernández Valdivieso, Elvira, Vázquez Fernández, Andrés, Barcia Losada, Andrea, García Martínez, Arantza, Portero Vázquez, Amparo, Trillo Dono, Natalia, Revilla Villegas, Concepción, Fernández Rodríguez, Raquel, García Armesto, Isabel, Giadas Piñeiro, Rocío, Rosa Rodríguez Macía, Ana, Carballada González, Francisco, Núñez Orjales, Ramón, Martin Lázaro, Joaquín, Alfredo González Guzmán, Luis, Mar Abad García, María, Gloria Álvarez Silveiro, María, Carmen Coria Abel, María, Díaz Sánchez, Javier, Jesús Freire Regueiro, María, María Casanova Quiñoá, Ana, José Dobao Feijoo, María, Luisa Fernández Rodríguez, María, Rey Ponce, Ángela, Monte Secades, Rafael, Jesús Pérez Taboada, María, Sánchez Fernández, Rafael, Pérez Peña, Juan, Pereira, Manuel, Conde Freire, Jesús
    Publicado 2020
    “…Every patient completed a clinical questionnaire with his or her temperature once per day and oxygen saturation levels three times per day. …”
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    Monitoring of COVID-19 patients via telemedicine with telemonitoring()
  12. 58352
    “…However, as a limitation of the study respondents may face difficulty in realizing the difference one item to another especially when items on the scale look so similar to her.…”
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    Validation of family planning tool in the pastoralist community
  13. 58353
    “…Qatari women agreed more strongly than non-Qatari women that a woman should be free to sell her property. Qatari women reported more influence than non-Qatari women in decisions about spending their money (M4.6 versus M4.4), food they can eat (M4.4 versus M4.2), and rest during pregnancy (M4.5 versus M4.2). …”
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    The Reproductive Agency Scale (RAS-17): development and validation in a cross-sectional study of pregnant Qatari and non-Qatari Arab Women
  14. 58354
    “…She had recurrent weight gain during the COVID-19 pandemic, and again was refractory to outpatient therapies. Given her co-morbidities, she was deemed high risk for COVID-19 exposure. …”
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    Outpatient Ultrafiltration to Prevent Hospital Readmission During Covid 19 Pandemic in Diuretic Intolerant Patient: Case Study
  15. 58355
    “…The lncRNA MYLK-AS1 promotes the growth and invasion of HCC through the EGFR/HER2-ERK1/2 signaling pathway. However, the clinical significance of MYLK-AS1 in HCC still needs to be further determined. …”
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    LncRNA MYLK-AS1 facilitates tumor progression and angiogenesis by targeting miR-424-5p/E2F7 axis and activating VEGFR-2 signaling pathway in hepatocellular carcinoma
  16. 58356
    por Clarfield, A. Mark, Jotkowitz, Alan
    Publicado 2020
    “…An individual older person’s wish to “make way” for younger people should be respected as an expression of his/her autonomy. As we enter the second wave, triage mechanisms and protocols need to be circulated in readiness for and well before a situation in which an acute imbalance develops between the availability for acute resources and the population’s need for them. …”
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    Age, ageing, ageism and “age-itation” in the Age of COVID-19: rights and obligations relating to older persons in Israel as observed through the lens of medical ethics
  17. 58357
    “…High-resolution array-based comparative genomic hybridization (array-CGH) revealed a ~ 300 kb microduplication of 7q36.3 locus (arr[GRCh37] 7q36.3(156385810_156684811) × 3) that co-segregated with TPT-PS in the proband and her mother. The duplication encompassed three genes including LMBR1, the intron 5 of which is known to harbor ZRS. …”
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    A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report
  18. 58358
    “…A narrative describes Kate’s perception of the outcomes of web-based parenting information and her perspective on contextual factors, information needs, and behavior associated with these outcomes. …”
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    Outcomes of Equity-Oriented, Web-Based Parenting Information in Mothers of Low Socioeconomic Status Compared to Other Mothers: Participatory Mixed Methods Study
  19. 58359
    “…METHODS: Pregnant women who reside in or receive healthcare in select communities are enrolled in the MNHR of the Global Network. For each woman and her offspring, sociodemographic, health care, and the major outcomes through 42-days post-delivery are recorded. …”
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    The Global Network Maternal Newborn Health Registry: a multi-country, community-based registry of pregnancy outcomes
  20. 58360
    “…The NRG1 gene encodes ligands for the HER2(ERBB2)-ERBB3 heterodimeric receptor tyrosine kinase, and the gene fusions are thought to lead to autocrine stimulation of the receptor. …”
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    NRG1 fusions in breast cancer
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