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18501por Bashir, Bilal, Banerjee, Moulinath, Bharaj, Harnovdeep Singh, Krishnan, Simmi, Khan, Atir, Williams, Carolyn, Basu, Ambar“…Due to strong clinical suspicion and family history of thyroid dysfunction that never needed a treatment, we tested her genetically for familial dysalbumineic hyperthyroxinemia (FDH) using mutation surveyor and fluorescent sequence analysis showed her to be heterozygous for c.725G>A ALB variant confirming diagnosis of FDH. …”
Publicado 2020
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18502por Jamal, Issra“…Conclusion: POEMS syndrome is a rare condition that involves multiple endocrine organs, currently there are no guidelines or recommendations to obtain baseline endocrine labs once the diagnosis is confirmed, but it might be appropriate if there is a high clinical suspicion. References: 1. Castillo JJ (2016). “Plasma Cell Disorders”. …”
Publicado 2020
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18503“…Conclusion: This case demonstrates the potential for chronic opioid use to suppress the hypothalamic-pituitary-thyroid axis and highlights the importance of maintaining an index of suspicion for hypothyroidism in this population. Reference: (1) de Vries, F., Bruin, M., Lobatto, DJ., Dekkers, OM., Schoones, JW., van Furth, WR., Pereira, AM., Karavitaki, N., Biermasz, NR., Najafabadi, AHZ. …”
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18504“…Conclusion: Although a rare disorder, clinicians should have a high index of suspicion for PHP to prevent complications of hypocalcemia (tetany, arrhythmias, seizures) and metabolic bone disease from PTH resistance. …”
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18505“…Conclusion: A high clinical index of suspicion is required for TIO in the setting of phosphaturic osteomalacia, particularly with a normal serum FGF23. …”
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18506“…Elevated 11-Deoxycortisol level raised a suspicion for 11-OHD CAH, or adrenal vs ovarian hormone-producing mass. …”
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18507“…Unlike PHP type 1A, PHP1B often presents later in life and features of AHO are usually absent, so diagnosis requires a high degree of clinical suspicion. It is recommended that patients with suspected PHP have molecular confirmation with sequencing, methylation, and/or copy number variant analysis of GNAS. …”
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18508“…GnRH (100 μg i.v) stimulation test showed a supranormal basal FSH level and a normal to higher LH response (FSH at baseline/peak were 23.0/38.6 IU/L; LH at baseline/peak were 8.81/47.7 IU/L). Under the clinical suspicion of aromatase deficiency, we performed genetic sequencing of CYP19A1 (NM_031226) and found a homozygous missense variant c.1108G>A (V370M), a previously reported pathogenic mutation. …”
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18509por Jeng, Henry Shiheng, Knoll, Michelle, Del Viso, Florencia, Baker, Darren, Repnikova, Elena, Feldt, Matthew Maximilian“…In cases with strong suspicion of FHH despite negative CASR and AP2S1 analyses, genetic analysis of GNA11 should also be considered. …”
Publicado 2020
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18510por Paulo, Remberto, Kirmani, Salman, Matlock, Kristal Anne, Bowlby, Deborah A, Headley, Terry“…CONCLUSION MODY remains underdiagnosed. A high index of suspicion should be maintained in nonobese, DAA-negative patients diagnosed with DM before 25yo. …”
Publicado 2020
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18511por Doo Kim, Moon, Nam, Beomwoo, Shim, Se-Hoon, Lim, Eun-Sung, Park, Sung-Yong, Lee, Sang-Yeol, Bahk, Won-Myong“…On April 1st of 2019, with suspicion of neuroleptic malignant syndrome, the patient was transferred to ICU at our institution. …”
Publicado 2020
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18512por Chang, Heepeel, Rockman, Caron B., Jacobowitz, Glenn R., Speranza, Giancarlo, Johnson, William S., Horowitz, James M., Garg, Karan, Maldonado, Thomas S., Sadek, Mikel, Barfield, Michael E.“…Duplex ultrasonography should be reserved for patients with a high clinical suspicion of venous thromboembolism for whom anticoagulation therapy could result in life-threatening consequences. …”
Publicado 2021
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18513por Gerall, Claire D., DeFazio, Jennifer R., Kahan, Anastasia M., Fan, Weijia, Fallon, Erica M., Middlesworth, William, Stylianos, Steven, Zitsman, Jeffrey L., Kadenhe-Chiweshe, Angela V., Spigland, Nitsana A., Griggs, Cornelia L., Kabagambe, Sandra K., Apfel, Gabriel, Fenster, Daniel B., Duron, Vincent P.“…Findings of complicated appendicitis on radiographic imaging including suspicion of perforation (41.7% vs 9.8%, p < 0.001) and intra-abdominal abscess (27.1% vs 7.3%, p = 0.025) were higher in patients presenting in 2020. …”
Publicado 2021
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18514por Collens, Sarah I, Wilcox, Douglas R, Mukerji, Shibani, Mateen, Farrah J, Solomon, Isaac H“…Seizures were defined as clinical events with a high-degree of suspicion to be true seizures, and were entirely comprised of generalized tonic-clonic seizures. …”
Publicado 2020
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18515por Eldred-Evans, David, Burak, Paula, Connor, Martin J., Day, Emily, Evans, Martin, Fiorentino, Francesca, Gammon, Martin, Hosking-Jervis, Feargus, Klimowska-Nassar, Natalia, McGuire, William, Padhani, Anwar R., Prevost, A. Toby, Price, Derek, Sokhi, Heminder, Tam, Henry, Winkler, Mathias, Ahmed, Hashim U.“…Both imaging tests were reported on a validated 5-point scale of suspicion. If any test result was positive, a systematic 12-core biopsy was performed. …”
Publicado 2021
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18516por Martínez-Gamboa, Areli, Niembro-Ortega, María Dolores, Torres-González, Pedro, Santiago-Cruz, Janeth, Velázquez-Zavala, Nancy Guadalupe, Rangel-Cordero, Andrea, Crabtree-Ramírez, Brenda, Gamboa-Domínguez, Armando, Reyes-Gutiérrez, Edgardo, Reyes-Terán, Gustavo, Lozano-Fernandez, Víctor Hugo, Ahumada-Topete, Víctor Hugo, Martínez-Ayala, Pedro, Manríquez-Reyes, Marisol, Ramírez-Hinojosa, Juan Pablo, Rodríguez-Zulueta, Patricia, Hernández-León, Christian, Ruíz-Quiñones, Jesús, Rivera-Martínez, Norma Eréndira, Chaparro-Sánchez, Alberto, Andrade-Villanueva, Jaime, González-Hernández, Luz Alicia, Cruz-Martínez, Sofia, Flores-Barrientos, Oscar, Gaytán-Martínez, Jesús Enrique, Magaña-Aquino, Martín, Cervantes-Sánchez, Axel, Olivas-Martínez, Antonio, Araujo-Meléndez, Javier, del Rocío Reyes-Montes, María, Duarte-Escalante, Esperanza, Frías-De León, María Guadalupe, Ramírez, José Antonio, Taylor, María Lucia, de León-Garduño, Alfredo Ponce, Sifuentes-Osornio, José“…METHODOLOGY/PRINCIPAL FINDINGS: We included 415 PLWHIV older than 18 years of age with suspicion of PDH. Using as diagnostic standard recovery of H. capsulatum in blood, bone marrow or tissue cultures, or histopathological exam compatible, detected 108 patients (26%, [95%CI, 21.78–30.22]) with proven-PDH. …”
Publicado 2021
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18517“…Conclusions: This is the first reported case of hepatocellular carcinoma in a patient with MEN 2A syndrome who had no predisposing liver disease, raising suspicion that his germline RET mutation contributed to his liver cancer.…”
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18518por Cohen, Melissa, Sanchez, Julienne, Toft, Daniel Joseph, Eisenberg, Yuval, Kukreja, Subhash C“…Serum IgG4 level was found to be elevated to 142 mg/dl (range: 1–123) which raised suspicion for autoimmune cholangiopathy. Discussion: Patient presented with non-PTH mediated hypercalcemia with low serum 1,25 OHD levels and elevated serum PTHrP level. …”
Publicado 2021
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18519por Lugo Lopez, Zahira Marie, Penna, Laurianne El Musa, Ortiz, Arnaldo Nieves, Rivera, Ivan Augusto, Diez, Andrea del Toro, Bossolo, Alex N Gonzalez, Garcia, Michelle Marie Mangual“…It is important to consider hyperthyroidism in the differential diagnoses of severe hypercalcemia. Prompt suspicion is essential due to the effective treatments available for Graves’ disease. …”
Publicado 2021
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18520por Akinseye, Leah I“…Since autoantibody status/titer may not always predict the clinical course, it is important for clinicians to keep a high index of suspicion of this process when the clinical course is atypical. …”
Publicado 2021
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